Ataxia Telangiectasia
Ataxia Telangiectasia Mutated Proteins
Telangiectasis
Telangiectasia, Hereditary Hemorrhagic
Ataxia
Tumor Suppressor Proteins
Cerebellar Ataxia
Cell Cycle Proteins
Protein-Serine-Threonine Kinases
Retinal Telangiectasis
Friedreich Ataxia
DNA-Binding Proteins
DNA Damage
Spinocerebellar Ataxias
Radiation, Ionizing
Checkpoint Kinase 2
DNA Repair
Gait Ataxia
Gamma Rays
Radiation Tolerance
Tumor Suppressor Protein p53
DNA Breaks, Double-Stranded
DNA-Activated Protein Kinase
Phosphorylation
Activin Receptors, Type II
Arteriovenous Malformations
Histones
Nuclear Proteins
Fibroblasts
Mutation
Dose-Response Relationship, Radiation
Cell Cycle
Nijmegen Breakage Syndrome
Streptonigrin
CREST Syndrome
Protein Kinases
Signal Transduction
G2 Phase
Chromosome Breakage
Microcephaly
Ultraviolet Rays
Heterozygote
X-Rays
Chromosome Aberrations
Apoptosis
Infrared Rays
Genes, cdc
Replication Protein A
S Phase
Cell Line, Transformed
DNA Repair Enzymes
Genomic Instability
Cell Survival
Cells, Cultured
Lymphocytes
G2 Phase Cell Cycle Checkpoints
Telomere
Aphidicolin
Telomeric Repeat Binding Protein 2
Mice, Knockout
Cell Cycle Checkpoints
DNA
Phenotype
Cardiac Output, High
Hydroxyurea
Activin Receptors, Type I
Mutation, Missense
Comet Assay
HeLa Cells
Chromosome Disorders
Bleomycin
Caffeine
Alkylating Agents
Cerebellum
Chromosomes, Human, Pair 11
Serine
Proteins
Immunologic Deficiency Syndromes
Intracellular Signaling Peptides and Proteins
RNA, Small Interfering
Molecular Sequence Data
DNA Ligases
Cell Aging
G1 Phase
Mice, 129 Strain
RNA Interference
Base Sequence
Pedigree
Chromosomal Proteins, Non-Histone
Cell Nucleus
Chromosomes, Human, Pair 14
BRCA1 Protein
Machado-Joseph Disease
Cyclin-Dependent Kinase Inhibitor p21
Oxidative Stress
Chromatin
Enzyme Activation
Immunoblotting
Recombination, Genetic
Camptothecin
Poly(ADP-ribose) Polymerases
Blotting, Western
Gene Rearrangement, T-Lymphocyte
Chromosomal Instability
Leucine Zippers
Angiodysplasia
Trinucleotide Repeat Expansion
cdc25 Phosphatases
Phosphatidylinositol 3-Kinases
Translocation, Genetic
Models, Biological
Radiation-Sensitizing Agents
Threonine
Mitosis
Intracranial Arteriovenous Malformations
Proto-Oncogene Proteins c-abl
Androstadienes
Flow Cytometry
Proto-Oncogene Proteins c-mdm2
Enzyme Inhibitors
Cell Division
Alleles
Protein Binding
Gene Deletion
Telomerase
p53- and ATM-dependent apoptosis induced by telomeres lacking TRF2. (1/586)
Although broken chromosomes can induce apoptosis, natural chromosome ends (telomeres) do not trigger this response. It is shown that this suppression of apoptosis involves the telomeric-repeat binding factor 2 (TRF2). Inhibition of TRF2 resulted in apoptosis in a subset of mammalian cell types. The response was mediated by p53 and the ATM (ataxia telangiectasia mutated) kinase, consistent with activation of a DNA damage checkpoint. Apoptosis was not due to rupture of dicentric chromosomes formed by end-to-end fusion, indicating that telomeres lacking TRF2 directly signal apoptosis, possibly because they resemble damaged DNA. Thus, in some cells, telomere shortening may signal cell death rather than senescence. (+info)Ataxia, ocular telangiectasia, chromosome instability, and Langerhans cell histiocytosis in a patient with an unknown breakage syndrome. (2/586)
An 8 year old boy who had Langerhans cell histiocytosis when he was 15 months old showed psychomotor regression from the age of 2 years. Microcephaly, severe growth deficiency, and ocular telangiectasia were also evident. Magnetic nuclear resonance imaging showed cerebellar atrophy. Alphafetoprotein was increased. Chromosome instability after x irradiation and rearrangements involving chromosome 7 were found. Molecular study failed to show mutations involving the ataxia-telangiectasia gene. This patient has a clinical picture which is difficult to relate to a known breakage syndrome. Also, the relationship between the clinical phenotype and histiocytosis is unclear. (+info)Replication-mediated DNA damage by camptothecin induces phosphorylation of RPA by DNA-dependent protein kinase and dissociates RPA:DNA-PK complexes. (3/586)
Replication protein A (RPA) is a DNA single-strand binding protein essential for DNA replication, recombination and repair. In human cells treated with the topoisomerase inhibitors camptothecin or etoposide (VP-16), we find that RPA2, the middle-sized subunit of RPA, becomes rapidly phosphorylated. This response appears to be due to DNA-dependent protein kinase (DNA-PK) and to be independent of p53 or the ataxia telangiectasia mutated (ATM) protein. RPA2 phosphorylation in response to camptothecin required ongoing DNA replication. Camptothecin itself partially inhibited DNA synthesis, and this inhibition followed the same kinetics as DNA-PK activation and RPA2 phosphorylation. DNA-PK activation and RPA2 phosphorylation were prevented by the cell-cycle checkpoint abrogator 7-hydroxystaurosporine (UCN-01), which markedly potentiates camptothecin cytotoxicity. The DNA-PK catalytic subunit (DNA-PKcs) was found to bind RPA which was replaced by the Ku autoantigen upon camptothecin treatment. DNA-PKcs interacted directly with RPA1 in vitro. We propose that the encounter of a replication fork with a topoisomerase-DNA cleavage complex could lead to a juxtaposition of replication fork-associated RPA and DNA double-strand end-associated DNA-PK, leading to RPA2 phosphorylation which may signal the presence of DNA damage to an S-phase checkpoint mechanism. KEYWORDS: camptothecin/DNA damage/DNA-dependent protein kinase/RPA2 phosphorylation (+info)Requirement of ATM in phosphorylation of the human p53 protein at serine 15 following DNA double-strand breaks. (4/586)
Microinjection of the restriction endonuclease HaeIII, which causes DNA double-strand breaks with blunt ends, induces nuclear accumulation of p53 protein in normal and xeroderma pigmentosum (XP) primary fibroblasts. In contrast, this induction of p53 accumulation is not observed in ataxia telangiectasia (AT) fibroblasts. HaeIII-induced p53 protein in normal fibroblasts is phosphorylated at serine 15, as determined by immunostaining with an antibody specific for phosphorylated serine 15 of p53. This phosphorylation correlates well with p53 accumulation. Treatment with lactacystin (an inhibitor of the proteasome) or heat shock leads to similar levels of p53 accumulation in normal and AT fibroblasts, but the p53 protein lacks a phosphorylated serine 15. Following microinjection of HaeIII into lactacystin-treated normal fibroblasts, lactacystin-induced p53 protein is phosphorylated at serine 15 and stabilized even in the presence of cycloheximide. However, neither stabilization nor phosphorylation at serine 15 is observed in AT fibroblasts under the same conditions. These results indicate the significance of serine 15 phosphorylation for p53 stabilization after DNA double-strand breaks and an absolute requirement for ATM in this phosphorylation process. (+info)Risk of breast cancer and other cancers in heterozygotes for ataxia-telangiectasia. (5/586)
Mortality from cancer among 178 parents and 236 grandparents of 95 British patients with ataxia-telangiectasia was examined. For neither parents nor grandparents was mortality from all causes or from cancer appreciably elevated over that of the national population. Among mothers, three deaths from breast cancer gave rise to a standardized mortality ratio of 3.37 (95% confidence interval (CI): 0.69-9.84). In contrast, there was no excess of breast cancer in grandmothers, the standardized mortality ratio being 0.89 (95% CI: 0.18-2.59), based on three deaths. This is the largest study of families of ataxia-telangiectasia patients conducted in Britain but, nonetheless, the study is small and CIs are wide. However, taken together with data from other countries, an increased risk of breast cancer among female heterozygotes is still apparent, though lower than previously thought. (+info)Abnormal myo-inositol and phospholipid metabolism in cultured fibroblasts from patients with ataxia telangiectasia. (6/586)
Ataxia telangiectasia (AT) is a complex autosomal recessive disorder that has been associated with a wide range of physiological defects including an increased sensitivity to ionizing radiation and abnormal checkpoints in the cell cycle. The mutated gene product, ATM, has a domain possessing homology to phosphatidylinositol-3-kinase and has been shown to possess protein kinase activity. In this study, we have investigated how AT affects myo-inositol metabolism and phospholipid synthesis using cultured human fibroblasts. In six fibroblast lines from patients with AT, myo-inositol accumulation over a 3-h period was decreased compared to normal fibroblasts. The uptake and incorporation of myo-inositol into phosphoinositides over a 24-h period, as well as the free myo-inositol content was also lower in some but not all of the AT fibroblast lines. A consistent finding was that the proportion of 32P in total labeled phospholipid that was incorporated into phosphatidylglycerol was greater in AT than normal fibroblasts, whereas the fraction of radioactivity in phosphatidic acid was decreased. Turnover studies revealed that AT cells exhibit a less active phospholipid metabolism as compared to normal cells. In summary, these studies demonstrate that two manifestations of the AT defect are alterations in myo-inositol metabolism and phospholipid synthesis. These abnormalities could have an effect on cellular signaling pathways and membrane production, as well as on the sensitivity of the cells to ionizing radiation and proliferative responses. (+info)Cell cycle control, checkpoint mechanisms, and genotoxic stress. (7/586)
The ability of cells to maintain genomic integrity is vital for cell survival and proliferation. Lack of fidelity in DNA replication and maintenance can result in deleterious mutations leading to cell death or, in multicellular organisms, cancer. The purpose of this review is to discuss the known signal transduction pathways that regulate cell cycle progression and the mechanisms cells employ to insure DNA stability in the face of genotoxic stress. In particular, we focus on mammalian cell cycle checkpoint functions, their role in maintaining DNA stability during the cell cycle following exposure to genotoxic agents, and the gene products that act in checkpoint function signal transduction cascades. Key transitions in the cell cycle are regulated by the activities of various protein kinase complexes composed of cyclin and cyclin-dependent kinase (Cdk) molecules. Surveillance control mechanisms that check to ensure proper completion of early events and cellular integrity before initiation of subsequent events in cell cycle progression are referred to as cell cycle checkpoints and can generate a transient delay that provides the cell more time to repair damage before progressing to the next phase of the cycle. A variety of cellular responses are elicited that function in checkpoint signaling to inhibit cyclin/Cdk activities. These responses include the p53-dependent and p53-independent induction of Cdk inhibitors and the p53-independent inhibitory phosphorylation of Cdk molecules themselves. Eliciting proper G1, S, and G2 checkpoint responses to double-strand DNA breaks requires the function of the Ataxia telangiectasia mutated gene product. Several human heritable cancer-prone syndromes known to alter DNA stability have been found to have defects in checkpoint surveillance pathways. Exposures to several common sources of genotoxic stress, including oxidative stress, ionizing radiation, UV radiation, and the genotoxic compound benzo[a]pyrene, elicit cell cycle checkpoint responses that show both similarities and differences in their molecular signaling. (+info)Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations. (8/586)
Mutations in the Ataxia Telangiectasia Mutated (ATM) gene are responsible for the autosomal recessive disease Ataxia Telangiectasia (A-T). A wide variety of mutations scattered across the entire coding region (9168bp) of ATM have been found, which presents a challenge in developing an efficient mutation screening strategy for detecting unknown mutations. Fluorescent chemical cleavage of mismatch (FCCM) is an ideal mutation screening method, offering a non-radioactive alternative to other techniques such as restriction endonuclease fingerprinting (REF). Using FCCM, we have developed an efficient, accurate and sensitive mutation detection method for screening RT-PCR products for ATM mutations. We have identified seven ATM mutations in five A-T families, four of which are previously unknown. We quantified ATM protein expression in four of the families and found variable ATM protein expression (0-6.4%), further evidence for mutant ATM protein expression in both classic and variant A-T patients. We conclude that FCCM offers a robust ATM mutation detection method and can be used to screen for ATM mutations in cancer-prone populations. (+info)The hallmark symptoms of AT are:
1. Ataxia: difficulty with coordination, balance, and gait.
2. Telangiectasias: small, red blood vessels visible on the skin, particularly on the face, neck, and arms.
3. Ocular telangiectasias: small, red blood vessels visible in the eyes.
4. Cognitive decline: difficulty with memory, learning, and concentration.
5. Seizures: episodes of abnormal electrical activity in the brain.
6. Increased risk of cancer: particularly lymphoma, myeloid leukemia, and breast cancer.
The exact cause of AT is not yet fully understood, but it is thought to be due to mutations in the ATM gene, which is involved in DNA damage response and repair. There is currently no cure for AT, but various treatments are available to manage its symptoms and prevent complications. These may include:
1. Physical therapy: to improve coordination and balance.
2. Occupational therapy: to assist with daily activities and fine motor skills.
3. Speech therapy: to improve communication and swallowing difficulties.
4. Medications: to control seizures, tremors, and other symptoms.
5. Cancer screening: regular monitoring for the development of cancer.
AT is a rare disorder, and it is estimated that only about 1 in 40,000 to 1 in 100,000 individuals are affected worldwide. It is important for healthcare providers to be aware of AT and its symptoms, as early diagnosis and intervention can improve outcomes for patients with this condition.
In the medical field, telangiectasis may be diagnosed through a physical examination and/or imaging tests such as ultrasound or MRI. Treatment options for telangiectasis depend on the underlying cause of the condition but may include topical creams or ointments, laser therapy, or lifestyle changes.
Some synonyms for telangiectasis are: spider veins, telangiectatic vessels, and spider naevi.
Note: Telangiectasis is not to be confused with telengectasis which is a condition where the blood vessels in the lung become dilated and can lead to pulmonary embolism.
People with HHT have abnormal blood vessels in their skin, mucous membranes, and organs such as the liver, spleen, and lungs. These abnormal vessels are weak and prone to bleeding, which can lead to nosebleeds, bruising, and other complications.
HHT is usually diagnosed based on a combination of clinical symptoms and genetic testing. Treatment typically involves managing symptoms with medications, lifestyle changes, and in some cases, surgery or other interventions to prevent bleeding episodes.
Some of the main symptoms of HHT include:
* Recurring nosebleeds
* Easy bruising
* Petechiae (tiny red spots on the skin)
* Purpura (larger purple spots on the skin)
* Gingival bleeding (bleeding from the gums)
* Epistaxis (nosebleeds)
* Hematuria (blood in the urine)
* Gastrointestinal bleeding
HHT is a relatively rare disorder, affecting about 1 in 5,000 to 1 in 10,000 people worldwide. It can be inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition. However, some cases may be caused by spontaneous mutations and not be inherited.
There are several types of HHT, including:
* Type 1: The most common type, characterized by recurring nosebleeds and other bleeding episodes.
* Type 2: Characterized by a milder form of the condition with fewer bleeding episodes.
* Type 3: A rare and severe form of HHT that is often associated with other medical conditions such as liver disease or pulmonary hypertension.
HHT can be diagnosed based on clinical findings and laboratory tests, including:
* Physical examination: To look for signs of bleeding and to assess the size and shape of the nose and ears.
* Imaging studies: Such as CT or MRI scans to evaluate the nasal passages and sinuses.
* Blood tests: To check for abnormalities in blood clotting and platelet function.
* Genetic testing: To identify mutations in the genes associated with HHT.
Treatment for HHT is focused on managing symptoms and preventing complications. It may include:
* Nasal decongestants and antihistamines to reduce bleeding and swelling.
* Corticosteroids to reduce inflammation.
* Antifibrinolytic medications to prevent blood clots from breaking down.
* Surgery to repair or remove affected blood vessels.
* Regular monitoring of blood counts and platelet function.
Early diagnosis and treatment can help improve the quality of life for people with HHT. It is important to seek medical attention if symptoms persist or worsen over time.
There are several types of ataxia, each with different symptoms and causes. Some common forms of ataxia include:
1. Spinocerebellar ataxia (SCA): This is the most common form of ataxia and is caused by a degeneration of the cerebellum and spinal cord. It can cause progressive weakness, loss of coordination, and difficulty with speaking and swallowing.
2. Friedreich's ataxia: This is the second most common form of ataxia and is caused by a deficiency of vitamin E in the body. It can cause weakness in the legs, difficulty walking, and problems with speech and language.
3. Ataxia-telangiectasia (AT): This is a rare form of ataxia that is caused by a gene mutation. It can cause progressive weakness, loss of coordination, and an increased risk of developing cancer.
4. Acute cerebellar ataxia: This is a sudden and temporary form of ataxia that can be caused by a variety of factors such as infections, injuries, or certain medications.
5. Drug-induced ataxia: Certain medications can cause ataxia as a side effect.
6. Vitamin deficiency ataxia: Deficiencies in vitamins such as vitamin B12 or folate can cause ataxia.
7. Metabolic disorders: Certain metabolic disorders such as hypothyroidism, hyperthyroidism, and hypoglycemia can cause ataxia.
8. Stroke or brain injury: Ataxia can be a result of a stroke or brain injury.
9. Multiple system atrophy (MSA): This is a rare progressive neurodegenerative disorder that can cause ataxia, parkinsonism, and autonomic dysfunction.
10. Spinocerebellar ataxia (SCA): This is a group of rare genetic disorders that can cause progressive cerebellar ataxia, muscle wasting, and other signs and symptoms.
It's important to note that this is not an exhaustive list and there may be other causes of ataxia not mentioned here. If you suspect you or someone you know may have ataxia, it is important to consult a healthcare professional for proper diagnosis and treatment.
Causes:
* Genetic mutations or deletions
* Infections such as meningitis or encephalitis
* Stroke or bleeding in the brain
* Traumatic head injury
* Multiple sclerosis or other demyelinating diseases
* Brain tumors
* Cerebellar degeneration due to aging
Symptoms:
* Coordination difficulties, such as stumbling or poor balance
* Tremors or shaky movements
* Slurred speech and difficulty with fine motor skills
* Nystagmus (involuntary eye movements)
* Difficulty with gait and walking
* Fatigue, weakness, and muscle wasting
Diagnosis:
* Physical examination and medical history
* Neurological examination to test coordination, balance, and reflexes
* Imaging studies such as MRI or CT scans to rule out other conditions
* Genetic testing to identify inherited forms of cerebellar ataxia
* Electromyography (EMG) to test muscle activity and nerve function
Treatment:
* Physical therapy to improve balance, coordination, and gait
* Occupational therapy to help with daily activities and fine motor skills
* Speech therapy to address slurred speech and communication difficulties
* Medications to manage symptoms such as tremors or spasticity
* Assistive devices such as canes or walkers to improve mobility
Prognosis:
* The prognosis for cerebellar ataxia varies depending on the underlying cause. In some cases, the condition may be slowly progressive and lead to significant disability over time. In other cases, the condition may remain stable or even improve with treatment.
Living with cerebellar ataxia can be challenging, but there are many resources available to help individuals with the condition manage their symptoms and maintain their quality of life. These resources may include:
* Physical therapy to improve balance and coordination
* Occupational therapy to assist with daily activities
* Speech therapy to address communication difficulties
* Assistive devices such as canes or walkers to improve mobility
* Medications to manage symptoms such as tremors or spasticity
* Support groups for individuals with cerebellar ataxia and their families
Overall, the key to managing cerebellar ataxia is early diagnosis and aggressive treatment. With proper management, individuals with this condition can lead active and fulfilling lives despite the challenges they face.
Retinal telangiectasis is a relatively rare condition, but it can be associated with other health conditions such as high blood pressure, diabetes, and sickle cell disease. It can also be caused by certain medications or injuries to the eye.
Symptoms of retinal telangiectasis can include blurred vision, floaters, flashes of light, and distorted vision. In some cases, the condition can lead to retinal detachment, which is a more serious complication that can cause blindness if left untreated.
Diagnosis of retinal telangiectasis typically involves a comprehensive eye exam, including a visual acuity test, dilated eye exam, and imaging tests such as fluorescein angiography or optical coherence tomography (OCT).
Treatment for retinal telangiectasis depends on the severity of the condition and can include close monitoring, medications to control underlying conditions such as high blood pressure, and in some cases, laser surgery or vitrectomy to repair damaged blood vessels. Early detection and treatment can help to slow the progression of the condition and preserve vision.
There are multiple types of SCA, each caused by an expansion of a specific DNA repeat sequence in the genome. This expansion leads to a loss of function in the protein produced by that gene, which is involved in various cellular processes that are essential for the proper functioning of the nervous system.
The symptoms of SCA typically begin in adulthood and can vary in severity and progression depending on the specific type of disorder. They may include:
1. Coordination problems and balance difficulties, leading to a wide, unsteady gait.
2. Slurred speech and difficulty with swallowing.
3. Difficulty with fine motor movements, such as writing or using utensils.
4. Loss of vision, including blindness in some cases.
5. Cognitive decline and dementia.
6. Seizures and other neurological problems.
There is currently no cure for SCA, and treatment is focused on managing symptoms and improving quality of life. This may include physical therapy, occupational therapy, speech therapy, and medication to control seizures or other neurological problems. In some cases, surgery may be necessary to relieve pressure on the brain or spinal cord.
Genetic testing can help diagnose SCA by detecting the expansion of the specific DNA repeat sequence that causes the disorder. This information can also be used to inform family members about their risk of inheriting the condition.
In summary, spinocerebellar ataxias are a group of inherited disorders that affect the brain and spinal cord, leading to progressive degeneration of the nervous system and a range of symptoms including coordination problems, slurred speech, and loss of vision. While there is currently no cure for SCA, treatment can help manage symptoms and improve quality of life. Genetic testing can help diagnose the condition and inform family members about their risk of inheriting it.
The main symptoms of gait ataxia include:
* Unsteadiness
* Lack of coordination
* Wobbling or staggering while walking
* Increased risk of falling
* Difficulty with balance and equilibrium
* Slow and deliberate movements
Gait ataxia can be assessed using various clinical tests such as the Clinical Test of Sensory Integration and Balance, the Berg Balance Scale, and the Timed Up and Go test. Treatment options for gait ataxia depend on the underlying cause of the condition and may include physical therapy, occupational therapy, speech therapy, medications, and in some cases, surgery.
In summary, gait ataxia is a term used to describe an abnormal gait pattern due to dysfunction in the nervous system. It can be caused by various factors and can affect individuals of all ages. The symptoms include unsteadiness, lack of coordination, and increased risk of falling, among others. Treatment options depend on the underlying cause of the condition and may include physical therapy, medications, and in some cases, surgery.
Definition: A nosebleed, also known as a bloody nose, is a common condition that occurs when the nasal passages bleed. It can be caused by a variety of factors, such as dry air, allergies, colds, sinus infections, and injuries to the nose.
Synonyms: Nosebleed, bloody nose, anterior epistaxis, posterior epistaxis.
Antonyms: None.
Epistaxis is a common condition that can be caused by a variety of factors, including:
1. Dry air: Dry air can cause the nasal passages to become dry and cracked, leading to bleeding.
2. Allergies: Seasonal allergies or allergies to dust, pollen, or other substances can cause inflammation and irritation in the nasal passages, leading to bleeding.
3. Colds: A common cold can cause inflammation and congestion in the nasal passages, leading to bleeding.
4. Sinus infections: An infection in the sinuses can cause inflammation and bleeding in the nasal passages.
5. Injuries: Trauma to the nose, such as a blow to the face or a fall, can cause bleeding.
6. Medications: Certain medications, such as aspirin or warfarin, can thin the blood and increase the risk of bleeding.
7. High blood pressure: High blood pressure can cause damage to the blood vessels in the nose, leading to bleeding.
8. Nose picking: Picking or blowing the nose too forcefully can cause trauma to the nasal passages and lead to bleeding.
9. Hereditary hemorrhagic telangiectasia (HHT): A rare genetic disorder that affects the blood vessels and can cause recurring nosebleeds.
Symptoms of epistaxis may include:
1. Blood flowing from one or both nostrils
2. Nasal congestion or stuffiness
3. Pain or discomfort in the nose or face
4. Difficulty breathing through the nose
5. Postnasal drip (mucus running down the back of the throat)
6. Swelling around the eyes or face
7. Fever or chills
8. Headache
9. Weakness or fatigue
If you experience any of these symptoms, it is important to seek medical attention. A healthcare professional can diagnose the cause of the nosebleed and recommend appropriate treatment. Treatment for epistaxis may include:
1. Nasal decongestants or antihistamines to reduce nasal congestion
2. Topical or oral antibiotics to treat any underlying infections
3. Applications of a topical ointment or cream to help protect the nasal passages and promote healing
4. Injectable medications to help constrict blood vessels and stop bleeding
5. Surgery to repair damaged blood vessels or remove any foreign objects that may be causing the bleeding.
AVMs are characterized by a tangle of abnormal blood vessels that can cause a variety of symptoms, including:
* Headaches
* Seizures
* Stroke-like episodes
* Neurological deficits such as weakness or numbness
* Vision problems
* Pain
AVMs can be diagnosed through a combination of imaging studies such as CT or MRI scans, and catheter angiography. Treatment options for AVMs include:
* Endovascular embolization, which involves using a catheter to inject materials into the abnormal blood vessels to block them off
* Surgery to remove the AVM
* Radiation therapy to shrink the AVM
The goal of treatment is to prevent bleeding, seizures, and other complications associated with AVMs. In some cases, treatment may not be necessary if the AVM is small and not causing any symptoms. However, in more severe cases, prompt treatment can significantly improve outcomes.
The main symptoms of NBS include:
* Microcephaly (a small head)
* Growth retardation
* Immune deficiency
* Neurological problems, such as seizures and developmental delays
* Skeletal abnormalities, such as short limbs and joint deformities
* Skin changes, such as a wrinkled appearance and increased risk of skin cancer
NBS is usually diagnosed through genetic testing, and treatment is focused on managing the symptoms and preventing complications. This may include physical therapy to improve mobility and strength, medication to control seizures, and antibiotics to prevent infections. In some cases, bone marrow transplantation may be recommended to restore immune function.
The prognosis for NBS is generally poor, with many individuals experiencing significant disability and a shortened lifespan. However, with appropriate medical care and support, some individuals with NBS can lead relatively normal lives.
Sources:
1. Genetics Home Reference (2022). Crest syndrome. Retrieved from
2. Orphanet (2022). Crest syndrome. Retrieved from
3. MedlinePlus (2022). Crest syndrome. Retrieved from
When a chromosome breaks, it can lead to genetic instability and potentially contribute to the development of diseases such as cancer. Chromosome breakage can also result in the loss or gain of genetic material, which can further disrupt normal cellular function and increase the risk of disease.
There are several types of chromosome breakage, including:
1. Chromosomal aberrations: These occur when there is a change in the number or structure of the chromosomes, such as an extra copy of a chromosome (aneuploidy) or a break in a chromosome.
2. Genomic instability: This refers to the presence of errors in the genetic material that can lead to changes in the function of cells and tissues.
3. Chromosomal fragile sites: These are specific regions of the chromosomes that are more prone to breakage than other regions.
4. Telomere shortening: Telomeres are the protective caps at the ends of the chromosomes, and their shortening can lead to chromosome breakage and genetic instability.
Chromosome breakage can be detected through cytogenetic analysis, which involves staining the cells with dyes to visualize the chromosomes and look for any abnormalities. The detection of chromosome breakage can help diagnose certain diseases, such as cancer, and can also provide information about the risk of disease progression.
In summary, chromosome breakage is a type of genetic alteration that can occur as a result of various factors, including exposure to radiation or chemicals, errors during cell division, or aging. It can lead to genetic instability and increase the risk of diseases such as cancer. Detection of chromosome breakage through cytogenetic analysis can help diagnose certain diseases and provide information about the risk of disease progression.
* Genetic mutations or chromosomal abnormalities
* Infections during pregnancy, such as rubella or toxoplasmosis
* Exposure to certain medications or chemicals during pregnancy
* Maternal malnutrition or poor nutrition during pregnancy
* Certain medical conditions, such as hypothyroidism or anemia.
Microcephaly can be diagnosed by measuring the baby's head circumference and comparing it to established norms for their age and gender. Other signs of microcephaly may include:
* A small, misshapen head
* Small eyes and ears
* Developmental delays or intellectual disability
* Seizures or other neurological problems
* Difficulty feeding or sucking
There is no cure for microcephaly, but early diagnosis and intervention can help manage the associated symptoms and improve quality of life. Treatment may include:
* Monitoring growth and development
* Physical therapy to improve muscle tone and coordination
* Occupational therapy to develop fine motor skills and coordination
* Speech therapy to improve communication skills
* Medication to control seizures or other neurological problems.
In some cases, microcephaly may be associated with other medical conditions, such as intellectual disability, autism, or vision or hearing loss. It is important for individuals with microcephaly to receive regular monitoring and care from a team of healthcare professionals to address any related medical issues.
There are several types of chromosome aberrations, including:
1. Chromosomal deletions: Loss of a portion of a chromosome.
2. Chromosomal duplications: Extra copies of a chromosome or a portion of a chromosome.
3. Chromosomal translocations: A change in the position of a chromosome or a portion of a chromosome.
4. Chromosomal inversions: A reversal of a segment of a chromosome.
5. Chromosomal amplifications: An increase in the number of copies of a particular chromosome or gene.
Chromosome aberrations can be detected through various techniques, such as karyotyping, fluorescence in situ hybridization (FISH), or array comparative genomic hybridization (aCGH). These tests can help identify changes in the chromosomal makeup of cells and provide information about the underlying genetic causes of disease.
Chromosome aberrations are associated with a wide range of diseases, including:
1. Cancer: Chromosome abnormalities are common in cancer cells and can contribute to the development and progression of cancer.
2. Birth defects: Many birth defects are caused by chromosome abnormalities, such as Down syndrome (trisomy 21), which is caused by an extra copy of chromosome 21.
3. Neurological disorders: Chromosome aberrations have been linked to various neurological disorders, including autism and intellectual disability.
4. Immunodeficiency diseases: Some immunodeficiency diseases, such as X-linked severe combined immunodeficiency (SCID), are caused by chromosome abnormalities.
5. Infectious diseases: Chromosome aberrations can increase the risk of infection with certain viruses, such as human immunodeficiency virus (HIV).
6. Ageing: Chromosome aberrations have been linked to the ageing process and may contribute to the development of age-related diseases.
7. Radiation exposure: Exposure to radiation can cause chromosome abnormalities, which can increase the risk of cancer and other diseases.
8. Genetic disorders: Many genetic disorders are caused by chromosome aberrations, such as Turner syndrome (45,X), which is caused by a missing X chromosome.
9. Rare diseases: Chromosome aberrations can cause rare diseases, such as Klinefelter syndrome (47,XXY), which is caused by an extra copy of the X chromosome.
10. Infertility: Chromosome abnormalities can contribute to infertility in both men and women.
Understanding the causes and consequences of chromosome aberrations is important for developing effective treatments and improving human health.
There are several types of genomic instability, including:
1. Chromosomal instability (CIN): This refers to changes in the number or structure of chromosomes, such as aneuploidy (having an abnormal number of chromosomes) or translocations (the movement of genetic material between chromosomes).
2. Point mutations: These are changes in a single base pair in the DNA sequence.
3. Insertions and deletions: These are changes in the number of base pairs in the DNA sequence, resulting in the insertion or deletion of one or more base pairs.
4. Genomic rearrangements: These are changes in the structure of the genome, such as chromosomal breaks and reunions, or the movement of genetic material between chromosomes.
Genomic instability can arise from a variety of sources, including environmental factors, errors during DNA replication and repair, and genetic mutations. It is often associated with cancer, as cancer cells have high levels of genomic instability, which can lead to the development of resistance to chemotherapy and radiation therapy.
Research into genomic instability has led to a greater understanding of the mechanisms underlying cancer and other diseases, and has also spurred the development of new therapeutic strategies, such as targeted therapies and immunotherapies.
In summary, genomic instability is a key feature of cancer cells and is associated with various diseases, including cancer, neurodegenerative disorders, and aging. It can arise from a variety of sources and is the subject of ongoing research in the field of molecular biology.
Cardiac output (CO) is a measure of the heart's ability to pump blood effectively. A high cardiac output indicates that the heart is pumping a large amount of blood per minute, which can be necessary for meeting the body's increased demands during physical activity or stress.
A cardiac output of more than 10 liters per minute is generally considered high. This can be caused by a variety of factors, including:
* Increased heart rate: A fast heart rate can increase the amount of blood being pumped by the heart.
* Increased stroke volume: When the heart muscle contracts, it can pump more blood with each beat if the stroke volume is increased.
* Increased cardiac power: This refers to the overall force of the heart's contractions, which can be increased in conditions such as hypertension or athetosis.
A high cardiac output can be beneficial in certain situations, such as during exercise or when the body needs more oxygen and nutrients. However, a consistently high cardiac output can also be indicative of a cardiovascular condition that needs to be treated.
Some possible causes of a high cardiac output include:
* Heart failure: This is a condition in which the heart is unable to pump enough blood to meet the body's needs.
* Hypertension: High blood pressure can put extra strain on the heart, causing it to work harder and increase its cardiac output.
* Athetosis: This is a condition characterized by an abnormal heart rhythm, which can cause the heart to beat more quickly and increase its cardiac output.
* Anemia: A lack of red blood cells can lead to a decrease in oxygen delivery to the body's tissues, causing the heart to work harder and increase its cardiac output.
In summary, a high cardiac output is generally considered to be more than 10 liters per minute and can be caused by a variety of factors, including increased heart rate, stroke volume, or cardiac power. While a high cardiac output can be beneficial in certain situations, it can also be indicative of a underlying cardiovascular condition that needs to be treated.
There are many different types of chromosome disorders, including:
1. Trisomy: This is a condition in which there is an extra copy of a chromosome. For example, Down syndrome is caused by an extra copy of chromosome 21.
2. Monosomy: This is a condition in which there is a missing copy of a chromosome.
3. Turner syndrome: This is a condition in which there is only one X chromosome instead of two.
4. Klinefelter syndrome: This is a condition in which there are three X chromosomes instead of the typical two.
5. Chromosomal translocations: These are abnormalities in which a piece of one chromosome breaks off and attaches to another chromosome.
6. Inversions: These are abnormalities in which a segment of a chromosome is reversed end-to-end.
7. Deletions: These are abnormalities in which a portion of a chromosome is missing.
8. Duplications: These are abnormalities in which there is an extra copy of a segment of a chromosome.
Chromosome disorders can have a wide range of effects on the body, depending on the type and severity of the condition. Some common features of chromosome disorders include developmental delays, intellectual disability, growth problems, and physical abnormalities such as heart defects or facial anomalies.
There is no cure for chromosome disorders, but treatment and support are available to help manage the symptoms and improve the quality of life for individuals with these conditions. Treatment may include medications, therapies, and surgery, as well as support and resources for families and caregivers.
Preventive measures for chromosome disorders are not currently available, but research is ongoing to understand the causes of these conditions and to develop new treatments and interventions. Early detection and diagnosis can help identify chromosome disorders and provide appropriate support and resources for individuals and families.
In conclusion, chromosome disorders are a group of genetic conditions that affect the structure or number of chromosomes in an individual's cells. These conditions can have a wide range of effects on the body, and there is no cure, but treatment and support are available to help manage symptoms and improve quality of life. Early detection and diagnosis are important for identifying chromosome disorders and providing appropriate support and resources for individuals and families.
Examples of syndromes include:
1. Down syndrome: A genetic disorder caused by an extra copy of chromosome 21 that affects intellectual and physical development.
2. Turner syndrome: A genetic disorder caused by a missing or partially deleted X chromosome that affects physical growth and development in females.
3. Marfan syndrome: A genetic disorder affecting the body's connective tissue, causing tall stature, long limbs, and cardiovascular problems.
4. Alzheimer's disease: A neurodegenerative disorder characterized by memory loss, confusion, and changes in personality and behavior.
5. Parkinson's disease: A neurological disorder characterized by tremors, rigidity, and difficulty with movement.
6. Klinefelter syndrome: A genetic disorder caused by an extra X chromosome in males, leading to infertility and other physical characteristics.
7. Williams syndrome: A rare genetic disorder caused by a deletion of genetic material on chromosome 7, characterized by cardiovascular problems, developmental delays, and a distinctive facial appearance.
8. Fragile X syndrome: The most common form of inherited intellectual disability, caused by an expansion of a specific gene on the X chromosome.
9. Prader-Willi syndrome: A genetic disorder caused by a defect in the hypothalamus, leading to problems with appetite regulation and obesity.
10. Sjogren's syndrome: An autoimmune disorder that affects the glands that produce tears and saliva, causing dry eyes and mouth.
Syndromes can be diagnosed through a combination of physical examination, medical history, laboratory tests, and imaging studies. Treatment for a syndrome depends on the underlying cause and the specific symptoms and signs presented by the patient.
Examples of Immunologic Deficiency Syndromes include:
1. Primary Immunodeficiency Diseases (PIDDs): These are a group of genetic disorders that affect the immune system's ability to function properly. Examples include X-linked agammaglobulinemia, common variable immunodeficiency, and severe combined immunodeficiency.
2. Acquired Immunodeficiency Syndrome (AIDS): This is a condition that results from the human immunodeficiency virus (HIV) infection, which destroys CD4 cells, a type of immune cell that fights off infections.
3. Immune Thrombocytopenic Purpura (ITP): This is an autoimmune disorder that causes the immune system to attack and destroy platelets, which are blood cells that help the blood to clot.
4. Autoimmune Disorders: These are conditions in which the immune system mistakenly attacks and damages healthy cells and tissues in the body. Examples include rheumatoid arthritis, lupus, and multiple sclerosis.
5. Immunosuppressive Therapy-induced Immunodeficiency: This is a condition that occurs as a side effect of medications used to prevent rejection in organ transplant patients. These medications can suppress the immune system, increasing the risk of infections.
Symptoms of Immunologic Deficiency Syndromes can vary depending on the specific disorder and the severity of the immune system dysfunction. Common symptoms include recurrent infections, fatigue, fever, and swollen lymph nodes. Treatment options for these syndromes range from medications to suppress the immune system to surgery or bone marrow transplantation.
In summary, Immunologic Deficiency Syndromes are a group of disorders that result from dysfunction of the immune system, leading to recurrent infections and other symptoms. There are many different types of these syndromes, each with its own set of symptoms and treatment options.
The symptoms of MJD typically begin in adulthood and progress slowly over time. They may include:
* Ataxia (loss of coordination and balance)
* Dysmetria (increased muscle tone)
* Dystonia (muscle spasms and twitches)
* Myoclonus (involuntary muscle jerks)
* Seizures
* Cognitive decline
* Eye movements abnormalities
* Slurred speech
MJD is usually diagnosed through a combination of clinical evaluation, genetic testing, and imaging studies. There is currently no cure for MJD, but various therapies can help manage its symptoms. These may include physical therapy, occupational therapy, speech therapy, and medications to control seizures or muscle spasms.
MJD is a rare disease, and its prevalence is not well established. However, it is estimated to affect approximately 1 in 100,000 individuals of Portuguese or Brazilian descent. The disease is usually inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition.
While there is currently no cure for MJD, research into its genetic and pathophysiological mechanisms is ongoing. Scientists are working to develop new treatments and therapies to slow or stop the progression of the disease, and to improve the quality of life for affected individuals and their families.
Examples of retinal diseases include:
1. Age-related macular degeneration (AMD): a leading cause of vision loss in people over the age of 50, AMD affects the macula, the part of the retina responsible for central vision.
2. Diabetic retinopathy (DR): a complication of diabetes that damages blood vessels in the retina and can cause blindness.
3. Retinal detachment: a condition where the retina becomes separated from the underlying tissue, causing vision loss.
4. Macular edema: swelling of the macula that can cause vision loss.
5. Retinal vein occlusion (RVO): a blockage of the small veins in the retina that can cause vision loss.
6. Retinitis pigmentosa (RP): a group of inherited disorders that affect the retina and can cause progressive vision loss.
7. Leber congenital amaurosis (LCA): an inherited disorder that causes blindness or severe visual impairment at birth or in early childhood.
8. Stargardt disease: a rare inherited disorder that affects the retina and can cause progressive vision loss, usually starting in childhood.
9. Juvenile macular degeneration: a rare inherited disorder that causes vision loss in young adults.
10. Retinal dystrophy: a group of inherited disorders that affect the retina and can cause progressive vision loss.
Retinal diseases can be diagnosed with a comprehensive eye exam, which includes a visual acuity test, dilated eye exam, and imaging tests such as optical coherence tomography (OCT) or fluorescein angiography. Treatment options vary depending on the specific disease and can include medication, laser surgery, or vitrectomy.
It's important to note that many retinal diseases can be inherited, so if you have a family history of eye problems, it's important to discuss your risk factors with your eye doctor. Early detection and treatment can help preserve vision and improve quality of life for those affected by these diseases.
There are several types of lymphoma, including:
1. Hodgkin lymphoma: This is a type of lymphoma that originates in the white blood cells called Reed-Sternberg cells. It is characterized by the presence of giant cells with multiple nucleoli.
2. Non-Hodgkin lymphoma (NHL): This is a type of lymphoma that does not meet the criteria for Hodgkin lymphoma. There are many subtypes of NHL, each with its own unique characteristics and behaviors.
3. Cutaneous lymphoma: This type of lymphoma affects the skin and can take several forms, including cutaneous B-cell lymphoma and cutaneous T-cell lymphoma.
4. Primary central nervous system (CNS) lymphoma: This is a rare type of lymphoma that develops in the brain or spinal cord.
5. Post-transplantation lymphoproliferative disorder (PTLD): This is a type of lymphoma that develops in people who have undergone an organ transplant, often as a result of immunosuppressive therapy.
The symptoms of lymphoma can vary depending on the type and location of the cancer. Some common symptoms include:
* Swollen lymph nodes
* Fever
* Fatigue
* Weight loss
* Night sweats
* Itching
Lymphoma is diagnosed through a combination of physical examination, imaging tests (such as CT scans or PET scans), and biopsies. Treatment options for lymphoma depend on the type and stage of the cancer, and may include chemotherapy, radiation therapy, immunotherapy, or stem cell transplantation.
Overall, lymphoma is a complex and diverse group of cancers that can affect people of all ages and backgrounds. While it can be challenging to diagnose and treat, advances in medical technology and research have improved the outlook for many patients with lymphoma.
Causes of Chromosomal Instability:
1. Genetic mutations: Mutations in genes that regulate the cell cycle or chromosome segregation can lead to CIN.
2. Environmental factors: Exposure to certain environmental agents such as radiation and certain chemicals can increase the risk of developing CIN.
3. Errors during DNA replication: Mistakes during DNA replication can also lead to CIN.
Types of Chromosomal Instability:
1. Aneuploidy: Cells with an abnormal number of chromosomes, either more or fewer than the normal diploid number (46 in humans).
2. Structural changes: Deletions, duplications, inversions, translocations, and other structural changes can occur in the chromosomes.
3. Unstable chromosome structures: Chromosomes with abnormal shapes or structures, such as telomere shortening, centromere instability, or chromosome breaks, can also lead to CIN.
Effects of Chromosomal Instability:
1. Cancer: CIN can increase the risk of developing cancer by disrupting normal cellular processes and leading to genetic mutations.
2. Aging: CIN can contribute to aging by shortening telomeres, which are the protective caps at the ends of chromosomes that help maintain their stability.
3. Neurodegenerative diseases: CIN has been implicated in the development of certain neurodegenerative diseases such as Alzheimer's and Parkinson's.
4. Infertility: CIN can lead to infertility by disrupting normal meiotic recombination and chromosome segregation during gametogenesis.
Detection and Diagnosis of Chromosomal Instability:
1. Karyotyping: This is a technique used to visualize the entire set of chromosomes in a cell. It can help identify structural abnormalities such as deletions, duplications, or translocations.
2. Fluorescence in situ hybridization (FISH): This technique uses fluorescent probes to detect specific DNA sequences or proteins on chromosomes. It can help identify changes in chromosome structure or number.
3. Array comparative genomic hybridization (aCGH): This technique compares the genetic material of a sample to a reference genome to identify copy number changes.
4. Next-generation sequencing (NGS): This technique can identify point mutations and other genetic changes in DNA.
Treatment and Management of Chromosomal Instability:
1. Cancer treatment: Depending on the type and stage of cancer, treatments such as chemotherapy, radiation therapy, or surgery may be used to eliminate cancer cells with CIN.
2. Prenatal testing: Pregnant women with a family history of CIN can undergo prenatal testing to detect chromosomal abnormalities in their fetuses.
3. Genetic counseling: Individuals with a family history of CIN can consult with a genetic counselor to discuss risk factors and potential testing options.
4. Lifestyle modifications: Making healthy lifestyle choices such as maintaining a balanced diet, exercising regularly, and not smoking can help reduce the risk of developing cancer and other diseases associated with CIN.
In conclusion, chromosomal instability is a common feature of many human diseases, including cancer, and can be caused by a variety of factors. The diagnosis and management of CIN require a multidisciplinary approach that includes cytogenetic analysis, molecular diagnostics, and clinical evaluation. Understanding the causes and consequences of CIN is crucial for developing effective therapies and improving patient outcomes.
What does angiodysplasia mean? What are the symptoms of angiodysplasia? How is angiodysplasia diagnosed and treated?
https://www.medicinenet.com › Medical Dictionary › G
A genetic translocation is a change in the number or arrangement of the chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material, which can have significant effects on the individual.
Genetic Translocation | Definition & Facts | Britannica
https://www.britannica.com › science › Genetic-tr...
Genetic translocation, also called chromosomal translocation, a type of chromosomal aberration in which a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material. Genetic translocations are often found in cancer cells and may play a role in the development and progression of cancer.
Translocation, Genetic | health Encyclopedia - UPMC
https://www.upmc.com › health-library › gene...
A genetic translocation is a change in the number or arrangement of the chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material, which can have significant effects on the individual.
Genetic Translocation | Genetics Home Reference - NIH
https://ghr.nlm.nih.gov › condition › ge...
A genetic translocation is a change in the number or arrangement of the chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material, which can have significant effects on the individual.
In conclusion, Genetic Translocation is an abnormality in the number or arrangement of chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome, resulting in a gain or loss of genetic material that can have significant effects on the individual.
There are several types of intracranial AVMs, including:
1. Cerebral AVMs: These are the most common type of AVM and occur in the cerebral hemispheres of the brain.
2. Spinal AVMs: These occur in the spinal cord and are less common than cerebral AVMs.
3. Multiple AVMs: Some people may have multiple AVMs, which can be located in different parts of the brain or spine.
The symptoms of intracranial AVMs can vary depending on the location and size of the malformation. They may include:
1. Seizures: AVMs can cause seizures, which can be a sign of the malformation.
2. Headaches: Patients with AVMs may experience frequent and severe headaches.
3. Weakness or numbness: AVMs can cause weakness or numbness in the arms or legs.
4. Vision problems: AVMs can affect the vision, including blurriness, double vision, or loss of peripheral vision.
5. Confusion or disorientation: Patients with AVMs may experience confusion or disorientation.
6. Seizures: AVMs can cause seizures, which can be a sign of the malformation.
7. Cranial nerve deficits: AVMs can affect the cranial nerves, leading to problems with speech, hearing, or facial movements.
8. Hydrocephalus: AVMs can cause hydrocephalus, which is an accumulation of fluid in the brain.
The diagnosis of intracranial AVMs is based on a combination of clinical symptoms, neuroimaging studies such as CT or MRI scans, and angiography. Angiography is a test that uses dye and X-rays to visualize the blood vessels in the brain.
Treatment of intracranial AVMs usually involves a multidisciplinary approach, including neurosurgeons, interventional neuroradiologists, and neurologists. Treatment options may include:
1. Observation: Small AVMs that are not causing symptoms may be monitored with regular imaging studies to see if they grow or change over time.
2. Endovascular embolization: This is a minimally invasive procedure in which a catheter is inserted through a blood vessel in the leg and directed to the AVM in the brain. Once there, the catheter releases tiny particles that block the flow of blood into the AVM, causing it to shrink or disappear.
3. Surgery: In some cases, surgery may be necessary to remove the AVM. This is usually done when the AVM is large or in a location that makes it difficult to treat with endovascular embolization.
4. Radiation therapy: This may be used to shrink the AVM before surgery or as a standalone treatment.
5. Chemotherapy: This may be used in combination with radiation therapy to treat AVMs that are caused by a genetic condition called hereditary hemorrhagic telangiectasia (HHT).
The choice of treatment depends on the location and size of the AVM, as well as the patient's overall health and other medical conditions. In some cases, a combination of treatments may be necessary to achieve the best outcome.
Ataxia-telangiectasia
Ataxia-telangiectasia group D complementing
Ataxia telangiectasia and Rad3 related
Therapeutic index
DNA ligase
Royal Papworth Hospital
Alpha-fetoprotein
Short-limb skeletal dysplasia with severe combined immunodeficiency
Stem cell theory of aging
Niemann-Pick disease, type C
GM2 gangliosidoses
NPAT (gene)
Penelope Jeggo
EZH2
SH3D21
Nuclease
Histone deacetylase
FANCD2
Aprataxin
X-Quisite
PLK3
Michael Stratton
Oleg Prokofiev
RRM2B
Periannan Senapathy
Rad50
RBBP8
Betamethasone
TRIM29
TOP2B
List of diseases (C)
Age and female fertility
DNA-PKcs
DNA damage theory of aging
Telomerase
Spinocerebellar ataxia
Hypogammaglobulinemia
PALB2
Primary immunodeficiency
G2-M DNA damage checkpoint
DNA repair
Endogenous regeneration
List of skin conditions
White blood cell
Cell cycle checkpoint
Telangiectasia
Microcephaly
Acute lymphoblastic leukemia
List of OMIM disorder codes
RAD17
Ataxia
Stephen Jackson (scientist)
Seckel syndrome
List of diseases (T)
List of diseases (M)
Hemophagocytic lymphohistiocytosis
Causes of cancer
Ataxia Telangiectasia | National Institute of Neurological Disorders and Stroke
'Ataxia Telangiectasia'[majr:noexp] AND humans[mh] AND english[la] AND 'last 1 Year' [edat] NOT (letter[pt] OR case reports[pt]...
Ataxia-telangiectasia - About the Disease - Genetic and Rare Diseases Information Center
Ataxia-telangiectasia syndrome - NIH Genetic Testing Registry (GTR) - NCBI
Ataxia Telangiectasia | AT | MedlinePlus
Ataxia Telangiectasia | AT | MedlinePlus
Ataxia-telangiectasia: MedlinePlus Genetics
Ataxia Telangiectasia (Legs) Picture Image on MedicineNet.com
EZH2-mediated H3K27 trimethylation mediates neurodegeneration in ataxia-telangiectasia
PA-07-274: Understanding and Treating Ataxia-Telangiectasia (R03)
MedlinePlus - Search Results for: "Ataxia-telangiectasia" syndrome
PA-07-274: Understanding and Treating Ataxia-Telangiectasia (R03)
Ophthalmic features of ataxia telangiectasia-like disorder - PubMed
Ataxia-telangiectasia - Getting a Diagnosis - Genetic and Rare Diseases Information Center
Feasibility of whole-body MRI for cancer surveillance in children and young people with Ataxia Telangiectasia
Subjects: Ataxia Telangiectasia - Digital Collections - National Library of Medicine Search Results
MedicoNotebook: Ataxia-Telangiectasia
WEE1 inhibitor and ataxia telangiectasia and RAD3-related inhibitor trigger stimulator of interferon gene-dependent immune...
Ayúdanos a encontrar una cura para la ataxia telangiectasia
Recombinant Ataxia Telangiectasia Mutated (ATM) | Technique alternative | 01018050578 - AT disability
Telangiectasia Ataxia Quiz: Check Possibility & Treatment with Ubie AI Symptom Checker
Linfopenia - ¿Qué factores aumentan el riesgo de desarrollar linfopenia? | NHLBI, NIH
Breast Cancer Risk Factors: Practice Essentials, Epidemiology of Breast Cancer, Overview
O6.4VX-970, selective inhibitor of ataxia telangiectasia and Rad3-related (ATR) protein. - Immunology
Chapter 10: General Principles of Rehabilitation
Breast Cancer Risk Factors: Practice Essentials, Epidemiology of Breast Cancer, Overview
DNA ligase - wikidoc
GM13909
Autosomal recessive1
- Ataxia Telangiectasia (A-T) is an autosomal recessive disorder characterised by cerebellar degeneration, immunodeficiency, respiratory disease, radiosensitivity, and cancer susceptibility. (nottingham.ac.uk)
Cerebello-oculocutaneous1
- Ataxia Telangiectasia (AT)-also known as Louis-Bar syndrome, cerebello-oculocutaneous telangiectasia, or immunodeficiency with ataxia telangiectasia-is a rare inherited childhood neurological disorder that affects the part of the brain that controls motor movement (intended movement of muscles) and speech. (nih.gov)
Spinocerebellar Ataxias1
- For example, in August 2018, the Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA) launched a five-year project funded by the National Institutes of Health (NIH) to assess the status of clinical trials in the field of Spinocerebellar Ataxias (SCA) and develop novel therapeutics for the treatment of SCA I and SCA II. (reportsanddata.com)
Characterized by cerebellar1
- The condition is typically characterized by cerebellar ataxia (uncoordinated muscle movements), oculomotor apraxia, telangiectasias, choreoathetosis (uncontrollable movements of the limbs), a weakened immune system with frequent infections, and an increased risk of cancers such as leukemia and lymphoma. (nih.gov)
Diagnosis5
- Ataxia-telangiectasia: diagnosis and treatment. (nih.gov)
- 3. Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents' perspective. (nih.gov)
- 15. Consequences of the delayed diagnosis of ataxia-telangiectasia. (nih.gov)
- 20. Rapid molecular prenatal diagnosis of ataxia-telangiectasia by direct mutational analysis. (nih.gov)
- North America is expected to account for largest revenue share over the forecast period due to an increase in ataxia prevalence, increased government funding for research efforts, and numerous support groups for patient diagnosis and treatment. (reportsanddata.com)
Protein5
- The level of this protein is normally increased in the bloodstream of pregnant women, but it is unknown why individuals with ataxia-telangiectasia have elevated AFP or what effects it has in these individuals. (nih.gov)
- The symptoms of ataxia-telangiectasia (A-T) include a progressive neurodegeneration caused by ATM protein deficiency. (nih.gov)
- O6.4VX-970, selective inhibitor of ataxia telangiectasia and Rad3-related (ATR) protein. (ox.ac.uk)
- 18. Enhanced phosphorylation of transcription factor sp1 in response to herpes simplex virus type 1 infection is dependent on the ataxia telangiectasia-mutated protein. (nih.gov)
- In response to ionizing radiation, Chk2 is phosphorylated on threonine 68 (T68) by ataxia-telangiectasia mutated (ATM) protein leading to its activation. (nih.gov)
Movements2
- This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5. (nih.gov)
- While therapy will not eliminate the coordination problems, ataxia and involuntary movements that are part of A-T, it can minimize or prevent secondary problems such as weakness, poor endurance, and progressive orthopedic deformities of the feet. (atcp.org)
Mutations4
- AT is caused by mutations in the ATM (ataxia-telangiectasis mutated) gene. (nih.gov)
- Variants (also called mutations) in the ATM gene cause ataxia-telangiectasia. (nih.gov)
- 5. Ataxia telangiectasia gene mutations in leukaemia and lymphoma. (nih.gov)
- 17. Characterization of ATM gene mutations in 66 ataxia telangiectasia families. (nih.gov)
Hereditary2
- Ataxia is caused mostly by hereditary or family genetic causes, as well as acquired ones such as nutritional deficiencies, autoimmune diseases, certain infections, exposure to toxins or drugs (particularly alcohol), and different malignancies. (reportsanddata.com)
- Increased patient population with hereditary strains of ataxia, increased awareness of ataxia, and government measures to combat these illnesses are expected to drive revenue growth of the Asia Pacific market over the forecast period. (reportsanddata.com)
Symptoms4
- When Do Symptoms of Ataxia-telangiectasia Begin? (nih.gov)
- Ataxia-telangiectasia has no cure, though treatments might improve some symptoms. (nih.gov)
- The rising incidence of ataxia, combined with improved technical developments in medication to treat ataxia symptoms are key factors driving the ataxia treatment market revenue growth. (reportsanddata.com)
- Furthermore, many technical breakthroughs in pharmacotherapy to give treatment against ataxia symptoms are driving revenue growth of the market over the forecast period. (reportsanddata.com)
Telangiectasis1
- How can I or my loved one help improve care for people with ataxia telangiectasis? (nih.gov)
Primary1
- The inadequacy of essential nutrients in the body is assumed to be a primary cause of ataxia, which is projected to drive revenue growth of the market over the forecast period. (reportsanddata.com)
Disorder4
- Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. (nih.gov)
- 6. Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis. (nih.gov)
- 10. Ataxia without telangiectasia revisited: update on genetic findings in two brothers with an ataxia-telangiectasia-like disorder. (nih.gov)
- If ataxia is a sign of another condition, the doctor will most likely treat that disorder as well. (reportsanddata.com)
40,0002
- Ataxia-telangiectasia occurs in 1 in 40,000 to 100,000 people worldwide. (nih.gov)
- According to the U.S. National Library of Medicine, ataxia affects 1 in 40,000 to 1,000,000 persons globally. (reportsanddata.com)
Cancer1
- The gene for it has now been cloned and sequenced, and there's a great deal of information now about how the gene works and how abnormalities of that gene may play a role in various forms of cancer, not necessarily related directly to ataxia telangiectasia. (nih.gov)
Typically2
- The life expectancy of people with ataxia-telangiectasia varies greatly, but affected individuals typically live into early adulthood. (nih.gov)
- Ataxia is typically caused by injury to the cerebellum (the region of the brain that governs muscle coordination) or its synapses. (reportsanddata.com)
Variant1
- Buckley, Cliona: Variant ataxia telangiectasia with a cavernoma and extensive white matter signal abnormalities. (iicn.ie)
Affects the nervous system1
- Ataxia telangiectasia (A-T) is rare condition that affects the nervous system, the immune system, and many other parts of the body. (nih.gov)
Syndrome1
- Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome. (nih.gov)
Immune system1
- People with ataxia-telangiectasia often have a weakened immune system, and many develop chronic lung infections. (nih.gov)
Treatments2
- Leading market trends include growing ataxia prevalence, fast research in the field of ataxia treatments, and increased partnerships and acquisitions among key competitors. (reportsanddata.com)
- Furthermore, increased research in the field of ataxia treatments is likely to propel market growth throughout the forecast period. (reportsanddata.com)
Disease3
- Ataxia-telangiectasia (A-T) is a rare, inherited disease. (nih.gov)
- Another disease, ataxia telangiectasia. (nih.gov)
- The disease ataxia telangiectasia for example in that era was considered a very obscure disease, a component of immunologic abnormalities, mainly of T-cell abnormalities, neurologic abnormalities, and some other pathophysiologic changes. (nih.gov)
Brain1
- The loss of these brain cells causes some of the movement problems characteristic of ataxia-telangiectasia. (nih.gov)
Patient2
- This is the first report of spontaneous improvement of angioimmunoblastic T-cell lymphoma in a patient with ataxia-telangiectasia who was 3 years old at presentation. (bvsalud.org)
- 19. [New mutation in ATM gen in patient whith Ataxia Telangiectasia: Clinical case]. (nih.gov)
Approval1
- The recent expiration of many medications used to treat symptomatic ataxia along with strict regulatory framework for approval of ataxia medications is putting a strain on revenue growth of the global ataxia treatment market. (reportsanddata.com)
Review3
Treatment4
- The global ataxia treatment market is expected to register a steady revenue CAGR during the forecast period. (reportsanddata.com)
- Ataxia does not have a particular treatment. (reportsanddata.com)
- Furthermore, revenue growth of the global ataxia treatment market is hampered due to the lack of a single authorized medicine for the treatment of ataxia. (reportsanddata.com)
- This demands the subsequent rise in the treatment of ataxia in the region. (reportsanddata.com)
Case2
- Spontaneous remission of angioimmunoblastic T-cell lymphoma in a child with ataxia-telangiectasia: a case report. (bvsalud.org)
- CASE PRESENTATION A 3-year-old Omani boy was diagnosed with ataxia -talengectasia presenting with fever and generalized lymphadenopathy . (bvsalud.org)
Update1
- 12. Radiosensitivity and oxidative signalling in ataxia telangiectasia: an update. (nih.gov)
Health1
- The high expense of treating ataxia, along with a shortage of trained health workers, is a major impediment to the global market. (reportsanddata.com)
Movement1
- Ataxia is a neural system degenerative illness that causes movement disorders. (reportsanddata.com)
Worldwide1
- These major trends are expected to support revenue growth of the worldwide ataxia market. (reportsanddata.com)