Brain Diseases
Brain
Brain Diseases, Metabolic, Inborn
Encephalitis
Magnetic Resonance Imaging
Mucopolysaccharidosis I
Leukoencephalopathies
Brain Diseases, Metabolic
Brain Chemistry
Alzheimer Disease
Blood-Brain Barrier
Neurons
Brain Injuries
Neural Stem Cells
Brain Neoplasms
Astrocytes
Schizophrenia
Brain Mapping
Disease Models, Animal
Microglia
Hippocampus
Image Processing, Computer-Assisted
Aging
Mental Disorders
Rats, Sprague-Dawley
Magnetic Resonance Spectroscopy
Brain Edema
Cells, Cultured
Immunohistochemistry
Biological Markers
Brain Stem
Brain Ischemia
Brain Abscess
Hypoxia, Brain
Cerebral Cortex
Brain Damage, Chronic
Proton MR spectroscopy of Sjogren-Larsson's syndrome. (1/60)
We performed single-voxel proton MR spectroscopy (1H-MRS) in two children with Sjogren-Larsson's syndrome (SLS). Both patients showed two abnormal spectral peaks at 1.3 ppm and 0.9 ppm that were obtained with short echo times. These two abnormal spectral peaks were seen in high-intensity areas on T2-weighted images and also in basal ganglia of normal intensities. 1H-MRS may be useful for establishing the diagnosis and investigating the natural history of SLS, and for evaluating the efficacy of therapeutic approaches to SLS. (+info)Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie) (2/60)
Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin (Tf). Two patients with these symptoms and similar abnormal Tf IEF patterns were analyzed by metabolic labeling of fibroblasts with inverted question mark2-(3)Hmannose. The patients produced a truncated dolichol-linked precursor oligosaccharide with 5 mannose residues, instead of the normal precursor with 9 mannose residues. Addition of 250 microM mannose to the culture medium corrected the size of the truncated oligosaccharide. Microsomes from fibroblasts of these patients were approximately 95% deficient in dolichol-phosphate-mannose (Dol-P-Man) synthase activity, with an apparent K(m) for GDP-Man approximately 6-fold higher than normal. DPM1, the gene coding for the catalytic subunit of Dol-P-Man synthase, was altered in both patients. One patient had a point mutation, C(274)G, causing an R(92)G change in the coding sequence. The other patient also had the C(274)G mutation and a 13-bp deletion that presumably resulted in an unstable transcript. Defects in DPM1 define a new glycosylation disorder, CDG-Ie. (+info)Extensive intracranial xanthoma associated with type II hyperlipidemia. (3/60)
Xanthomas are associated with a spectrum of medical conditions, most commonly disorders of lipid storage and lipid metabolism. They occur primarily in the subcutaneous tissues, especially along the Achilles tendon and the extensor tendons of the hands. Intracranial xanthomas are extremely rare. We present a case of an extensive xanthoma of the temporal bone in a patient with hyperlipidemia. (+info)Mutation analysis in glutaric aciduria type I. (4/60)
Glutaric aciduria type 1 (GA1), resulting from the genetic deficiency of glutaryl-CoA dehydrogenase (GDH), is a relatively common cause of acute metabolic brain damage in infants. Encephalopathic crises may be prevented by carnitine supplementation and diet, but diagnosis can be difficult as some patients do not show the typical excretion of large amounts of glutaric and 3-hydroxyglutaric acids in the urine. We present a rapid and efficient denaturing gradient gel electrophoresis (DGGE) method for the identification of mutations in the glutaryl-CoA dehydrogenase (GCDH) gene that may be used for the molecular diagnosis of GA1 in a routine setting. Using this technique, we identified mutations on both alleles in 48 patients with confirmed GDH deficiency, while no mutations were detected in other patients with clinical suspicion of GA1 but normal enzyme studies. There was a total of 38 different mutations; 27 mutations were found in single patients only, and 21 mutations have not been previously reported. Fourteen mutations involved hypermutable CpG sites. The commonest GA1 mutation in Europeans is R402W, which accounts for almost 40% of alleles in patients of German origin. GCDH gene haplotypes were determined through the analysis of polymorphic markers in all families, and three CpG mutations were associated with different haplotypes, possibly reflecting independent recurrence. The high sensitivity of the DGGE method allows the rapid and cost efficient diagnosis of GA1 in instances where enzyme analyses are not available or feasible, despite the marked heterogeneity of the disease. (+info)Abnormal vertical optokinetic nystagmus in infants and children. (5/60)
AIMS: To determine if testing vertical optokinetic nystagmus (VOKN) has a role in the clinical assessment of infants and children. METHODS: A large field projection system was developed with which optokinetic nystagmus (OKN) could be stimulated in any direction. Gross abnormalities in the response were detected simply by observation. RESULTS: VOKN was tested in 144 children using this OKN projection system. 26 of these children had abnormal VOKN; 13 had a vertical saccade initiation failure "ocular motor apraxia" (in either direction, up/down, or in both) and 13 had absent VOKN (in either direction, up/down, or in both). Nine of the children with an up and/or down vertical saccade initiation failure (VSIF) had a neurometabolic disease (two had Niemann-Pick disease type C, five had Gaucher disease type III, one had Gaucher disease type II, and one had Gaucher disease type I). Five children with a VSIF had an abnormality identified by a magnetic resonance imaging (MRI) scan of the brain. In two of these children there was a focal lesion of the rostral midbrain. In 11 of the children with absent up and/or down VOKN an MRI scan revealed an abnormality. This involved the brainstem and/or the cerebellum in 10. Absent up and/or down VOKN was found in association with Joubert syndrome, Leigh disease, and cerebral palsy. CONCLUSION: VOKN testing has a useful role in detecting neurological abnormalities in infants and children. Detection of abnormal VOKN should indicate further investigations for a neurometabolic disease or an abnormality involving the cortex, brainstem, and/or cerebellum. Abnormal VOKN but normal horizontal OKN is highly suggestive of a rostral midbrain lesion. (+info)Cytochrome c oxidase-deficient patients have distinct subunit assembly profiles. (6/60)
Cytochrome c oxidase (COX) deficiency is the most common respiratory chain defect in childhood and is clinically heterogeneous. We report a study of six patients with COX deficiencies. Two of the patients had as yet undefined defects, three patients had Surf-1 mutations, and one patient had a 15-base pair deletion in the COX III subunit. We show that quantitative measurements of steady-state levels of subunits by monoclonal antibody reactivity, when used in combination with a discontinuous sucrose gradient methods, provide an improved diagnosis of COX deficiencies by distinguishing between kinetic, stability, and assembly defects. The two mutants of undefined etiology had a full complement of subunits with one stable and the other partially unstable to detergent solubilization. Both are likely to carry mutations in nuclear-encoded subunits of the complex. The three Surf-1 mutants and the COX III mutant each had reduced steady-state levels of subunits but variable associations of the residual subunits. This information, as well as aiding in diagnosis, helps in understanding the genotype-phenotype relationships of COX deficiencies and provides insight into the mechanism of assembly of the enzyme complex. (+info)MR brain imaging of fucosidosis type I. (7/60)
SUMMARY: Fucosidosis is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly, recurrent respiratory infections, and growth retardation. Fucosidosis type I rapidly evolves toward a progressive neurologic deterioration and death. We report MR imaging findings of the brain of three patients with fucosidosis type I, including previously unreported findings, to expand the knowledge of the neuroradiologic spectrum of the disease. (+info)A new neurological entity manifesting as involuntary movements and dysarthria with possible abnormal copper metabolism. (8/60)
A few patients with an affected CNS involving abnormalities in copper metabolism have been described that do not fit any known nosological entities such as Wilson's disease or Menkes' disease. Three sporadic patients (two men and one woman) were examined with involuntary movements and dysarthria associated with abnormal concentrations of serum copper, serum ceruloplasmin, and urinary copper excretion. The onset of neurological symptoms occurred at the age of 15 to 17 years. The common clinical symptoms were involuntary movements and dysarthria. The involuntary movements included dystonia in the neck, myoclonus in the shoulder, athetosis in the neck, and rapid orobuccal movements. The dysarthria consisted of unclear, slow, and stuttering speech. Two of the three patients did not have dementia. A cousin of the female patient had been diagnosed as having Wilson's disease and had died of liver cirrhosis. Laboratory findings showed a mild reduction in serum copper and ceruloplasmin concentrations, whereas urinary copper excretion was significantly reduced in all three patients. Two of the three patients showed a high signal intensity in the basal ganglia on T2 weighted brain MRI. In conclusion, the unique findings of involuntary movements, dysarthria, and abnormal serum copper and urinary copper concentrations suggest that the three patients may constitute a new clinical entity that is distinct from either Wilson's or Menkes disease. (+info)Some common types of brain diseases include:
1. Neurodegenerative diseases: These are progressive conditions that damage or kill brain cells over time, leading to memory loss, cognitive decline, and movement disorders. Examples include Alzheimer's disease, Parkinson's disease, Huntington's disease, and amyotrophic lateral sclerosis (ALS).
2. Stroke: This occurs when blood flow to the brain is interrupted, leading to cell death and potential long-term disability.
3. Traumatic brain injury (TBI): This refers to any type of head injury that causes damage to the brain, such as concussions, contusions, or penetrating wounds.
4. Infections: Viral, bacterial, and fungal infections can all affect the brain, leading to a range of symptoms including fever, seizures, and meningitis.
5. Tumors: Brain tumors can be benign or malignant and can cause a variety of symptoms depending on their location and size.
6. Cerebrovascular diseases: These conditions affect the blood vessels of the brain, leading to conditions such as aneurysms, arteriovenous malformations (AVMs), and Moyamoya disease.
7. Neurodevelopmental disorders: These are conditions that affect the development of the brain and nervous system, such as autism spectrum disorder, ADHD, and intellectual disability.
8. Sleep disorders: Conditions such as insomnia, narcolepsy, and sleep apnea can all have a significant impact on brain function.
9. Psychiatric disorders: Mental health conditions such as depression, anxiety, and schizophrenia can affect the brain and its functioning.
10. Neurodegenerative with brain iron accumulation: Conditions such as Parkinson's disease, Alzheimer's disease, and Huntington's disease are characterized by the accumulation of abnormal proteins and other substances in the brain, leading to progressive loss of brain function over time.
It is important to note that this is not an exhaustive list and there may be other conditions or factors that can affect the brain and its functioning. Additionally, many of these conditions can have a significant impact on a person's quality of life, and it is important to seek medical attention if symptoms persist or worsen over time.
Examples of brain diseases, metabolic, inborn include:
1. Phenylketonuria (PKU): A genetic disorder that affects the body's ability to break down the amino acid phenylalanine, leading to a buildup of toxic substances in the brain and blood.
2. Maple syrup urine disease (MSUD): Another genetic disorder that affects the body's ability to break down certain amino acids, resulting in a distinctive odor in the urine and potential brain damage if left untreated.
3. Mucopolysaccharidoses (MPS): A group of inherited diseases that affect the body's ability to produce or break down certain sugars, leading to progressive damage to various organs and systems, including the brain and nervous system.
4. Fabry disease: An inherited disorder caused by a deficiency of an enzyme called alpha-galactosidase A, which leads to the accumulation of a fatty substance in the body's cells and tissues, including the brain.
5. Mitochondrial disorders: A group of conditions caused by mutations or errors in the DNA of mitochondria, the energy-producing structures within cells. These disorders can affect various organs and systems, including the brain and nervous system.
These conditions are often treated with a combination of dietary restrictions, medication, and other therapies to manage symptoms and prevent complications. In some cases, bone marrow transplantation or enzyme replacement therapy may be necessary. Early detection and intervention can help improve outcomes for individuals with these conditions.
Encephalitis can cause a range of symptoms, including fever, headache, confusion, seizures, and loss of consciousness. In severe cases, encephalitis can lead to brain damage, coma, and even death.
The diagnosis of encephalitis is based on a combination of clinical signs, laboratory tests, and imaging studies. Laboratory tests may include blood tests to detect the presence of antibodies or antigens specific to the causative agent, as well as cerebrospinal fluid (CSF) analysis to look for inflammatory markers and/or bacteria or viruses in the CSF. Imaging studies, such as CT or MRI scans, may be used to visualize the brain and identify any areas of damage or inflammation.
Treatment of encephalitis typically involves supportive care, such as intravenous fluids, oxygen therapy, and medication to manage fever and pain. Antiviral or antibacterial drugs may be used to target the specific causative agent, if identified. In severe cases, hospitalization in an intensive care unit (ICU) may be necessary to monitor and manage the patient's condition.
Prevention of encephalitis includes vaccination against certain viruses that can cause the condition, such as herpes simplex virus and Japanese encephalitis virus. Additionally, avoiding exposure to mosquitoes and other insects that can transmit viruses or bacteria that cause encephalitis, as well as practicing good hygiene and sanitation, can help reduce the risk of infection.
Overall, encephalitis is a serious and potentially life-threatening condition that requires prompt medical attention for proper diagnosis and treatment. With appropriate care, many patients with encephalitis can recover fully or partially, but some may experience long-term neurological complications or disability.
The main symptoms of MPS I include:
1. Coarse facial features, such as a large head, prominent forehead, and widely spaced eyes.
2. Short stature and joint deformities, particularly in the hands and feet.
3. Heart valve problems and potential heart failure.
4. Respiratory issues, including sleep apnea and difficulty breathing.
5. Developmental delays and intellectual disability.
6. Vision loss or blindness.
7. Hearing loss or deafness.
8. Increased risk of infections.
MPS I is caused by a deficiency of the enzyme alpha-L-iduronidase, which is needed to break down a specific type of sugar called glycosaminoglycans (GAGs). This accumulation of GAGs in cells and tissues leads to the signs and symptoms of the disorder.
There are several types of MPS I, ranging from mild to severe, and they are classified based on the level of enzyme deficiency and the severity of symptoms. Treatment options for MPS I include enzyme replacement therapy (ERT), which involves replacing the missing enzyme with a synthetic version, as well as other supportive therapies to manage symptoms and prevent complications. Bone marrow transplantation is also being studied as a potential treatment option for MPS I.
In summary, mucopolysaccharidosis type I (MPS I) is a rare genetic disorder that affects the body's ability to break down sugar molecules, leading to progressive damage to various parts of the body and a range of symptoms including joint deformities, heart problems, developmental delays, and vision and hearing loss.
There are several types of leukoencephalopathies, each with its own unique set of causes and characteristics. Some of the most common include:
1. Adrenoleukodystrophy (ALD): A genetic disorder that affects the breakdown of fatty acids in the body, leading to the accumulation of toxic substances in the brain.
2. Metachromatic leukodystrophy (MLD): A genetic disorder that affects the metabolism of certain fats in the body, leading to the accumulation of toxic substances in the brain.
3. Krabbe disease: A rare genetic disorder that affects the breakdown of a substance called galactocerebroside in the brain, leading to the accumulation of toxic substances and progressive damage to the nervous system.
4. Niemann-Pick disease: A group of inherited disorders that affect the metabolism of certain fats in the body, leading to the accumulation of toxic substances in the brain and other organs.
5. Alexander disease: A rare genetic disorder that affects the breakdown of a substance called galactose in the brain, leading to the accumulation of toxic substances and progressive damage to the nervous system.
The symptoms of leukoencephalopathies can vary depending on the specific type of disorder and the severity of the disease. Common symptoms include:
* Cognitive impairment: Difficulty with learning, memory, and problem-solving skills.
* Motor dysfunction: Weakness, rigidity, or tremors in the muscles.
* Seizures: Abnormal electrical activity in the brain that can cause convulsions or other symptoms.
* Vision loss: Blindness or vision impairment due to damage to the optic nerve.
* Speech difficulties: Slurred speech, difficulty with articulation, or other communication challenges.
* Behavioral changes: Increased irritability, aggression, or other behavioral problems.
There is no cure for leukoencephalopathies, but treatment options are available to manage the symptoms and slow the progression of the disease. These may include:
1. Physical therapy: To improve motor function and reduce muscle weakness.
2. Occupational therapy: To improve daily living skills and cognitive function.
3. Speech therapy: To improve communication skills and address swallowing difficulties.
4. Medications: To control seizures, muscle spasms, or other symptoms.
5. Nutritional support: To ensure adequate nutrition and address any feeding challenges.
6. Respiratory support: To assist with breathing and manage respiratory infections.
7. Psychological support: To address behavioral changes and other psychological issues.
The prognosis for leukoencephalopathies is generally poor, as the diseases tend to progress rapidly and can lead to significant disability or death within a few years of onset. However, with appropriate management and support, many individuals with these conditions can achieve a good quality of life and live well into adulthood. It is important for families to work closely with healthcare providers to develop a comprehensive treatment plan that addresses their child's specific needs and provides ongoing support throughout their lives.
These disorders can cause a range of symptoms including cognitive impairment, confusion, memory loss, seizures, and changes in behavior and mood. Treatment options for brain disease metabolic disorders vary depending on the specific condition and may include medication, lifestyle changes, and other interventions such as surgery or rehabilitation therapy.
Examples of brain diseases, metabolic include:
* Hypoglycemia (low blood sugar)
* Hyperglycemia (high blood sugar)
* Diabetes mellitus (type 1 and type 2)
* Metabolic stroke
* Traumatic brain injury
* Neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease, and Huntington's disease.
It is important to note that while these conditions are considered metabolic disorders, they can also have a significant impact on other aspects of an individual's life, including their mood, behavior, and cognitive functioning. Therefore, it is important to seek medical attention if symptoms persist or worsen over time.
The symptoms of Alzheimer's disease can vary from person to person and may progress slowly over time. Early symptoms may include memory loss, confusion, and difficulty with problem-solving. As the disease progresses, individuals may experience language difficulties, visual hallucinations, and changes in mood and behavior.
There is currently no cure for Alzheimer's disease, but there are several medications and therapies that can help manage its symptoms and slow its progression. These include cholinesterase inhibitors, memantine, and non-pharmacological interventions such as cognitive training and behavioral therapy.
Alzheimer's disease is a significant public health concern, affecting an estimated 5.8 million Americans in 2020. It is the sixth leading cause of death in the United States, and its prevalence is expected to continue to increase as the population ages.
There is ongoing research into the causes and potential treatments for Alzheimer's disease, including studies into the role of inflammation, oxidative stress, and the immune system. Other areas of research include the development of biomarkers for early detection and the use of advanced imaging techniques to monitor progression of the disease.
Overall, Alzheimer's disease is a complex and multifactorial disorder that poses significant challenges for individuals, families, and healthcare systems. However, with ongoing research and advances in medical technology, there is hope for improving diagnosis and treatment options in the future.
There are several different types of brain injuries that can occur, including:
1. Concussions: A concussion is a type of mild traumatic brain injury that occurs when the brain is jolted or shaken, often due to a blow to the head.
2. Contusions: A contusion is a bruise on the brain that can occur when the brain is struck by an object, such as during a car accident.
3. Coup-contrecoup injuries: This type of injury occurs when the brain is injured as a result of the force of the body striking another object, such as during a fall.
4. Penetrating injuries: A penetrating injury occurs when an object pierces the brain, such as during a gunshot wound or stab injury.
5. Blast injuries: This type of injury occurs when the brain is exposed to a sudden and explosive force, such as during a bombing.
The symptoms of brain injuries can vary depending on the severity of the injury and the location of the damage in the brain. Some common symptoms include:
* Headaches
* Dizziness or loss of balance
* Confusion or disorientation
* Memory loss or difficulty with concentration
* Slurred speech or difficulty with communication
* Vision problems, such as blurred vision or double vision
* Sleep disturbances
* Mood changes, such as irritability or depression
* Personality changes
* Difficulty with coordination and balance
In some cases, brain injuries can be treated with medication, physical therapy, and other forms of rehabilitation. However, in more severe cases, the damage may be permanent and long-lasting. It is important to seek medical attention immediately if symptoms persist or worsen over time.
Brain neoplasms can arise from various types of cells in the brain, including glial cells (such as astrocytes and oligodendrocytes), neurons, and vascular tissues. The symptoms of brain neoplasms vary depending on their size, location, and type, but may include headaches, seizures, weakness or numbness in the limbs, and changes in personality or cognitive function.
There are several different types of brain neoplasms, including:
1. Meningiomas: These are benign tumors that arise from the meninges, the thin layers of tissue that cover the brain and spinal cord.
2. Gliomas: These are malignant tumors that arise from glial cells in the brain. The most common type of glioma is a glioblastoma, which is aggressive and hard to treat.
3. Pineal parenchymal tumors: These are rare tumors that arise in the pineal gland, a small endocrine gland in the brain.
4. Craniopharyngiomas: These are benign tumors that arise from the epithelial cells of the pituitary gland and the hypothalamus.
5. Medulloblastomas: These are malignant tumors that arise in the cerebellum, specifically in the medulla oblongata. They are most common in children.
6. Acoustic neurinomas: These are benign tumors that arise on the nerve that connects the inner ear to the brain.
7. Oligodendrogliomas: These are malignant tumors that arise from oligodendrocytes, the cells that produce the fatty substance called myelin that insulates nerve fibers.
8. Lymphomas: These are cancers of the immune system that can arise in the brain and spinal cord. The most common type of lymphoma in the CNS is primary central nervous system (CNS) lymphoma, which is usually a type of B-cell non-Hodgkin lymphoma.
9. Metastatic tumors: These are tumors that have spread to the brain from another part of the body. The most common types of metastatic tumors in the CNS are breast cancer, lung cancer, and melanoma.
These are just a few examples of the many types of brain and spinal cord tumors that can occur. Each type of tumor has its own unique characteristics, such as its location, size, growth rate, and biological behavior. These factors can help doctors determine the best course of treatment for each patient.
The term "schizophrenia" was first used by the Swiss psychiatrist Eugen Bleuler in 1908 to describe the splitting of mental functions, which he believed was a key feature of the disorder. The word is derived from the Greek words "schizein," meaning "to split," and "phrenos," meaning "mind."
There are several subtypes of schizophrenia, including:
1. Paranoid Schizophrenia: Characterized by delusions of persecution and suspicion, and a tendency to be hostile and defensive.
2. Hallucinatory Schizophrenia: Characterized by hearing voices or seeing things that are not there.
3. Disorganized Schizophrenia: Characterized by disorganized thinking and behavior, and a lack of motivation or interest in activities.
4. Catatonic Schizophrenia: Characterized by immobility, mutism, and other unusual movements or postures.
5. Undifferentiated Schizophrenia: Characterized by a combination of symptoms from the above subtypes.
The exact cause of schizophrenia is still not fully understood, but it is believed to involve a combination of genetic, environmental, and neurochemical factors. It is important to note that schizophrenia is not caused by poor parenting or a person's upbringing.
There are several risk factors for developing schizophrenia, including:
1. Genetics: A person with a family history of schizophrenia is more likely to develop the disorder.
2. Brain chemistry: Imbalances in neurotransmitters such as dopamine and serotonin have been linked to schizophrenia.
3. Prenatal factors: Factors such as maternal malnutrition or exposure to certain viruses during pregnancy may increase the risk of schizophrenia in offspring.
4. Childhood trauma: Traumatic events during childhood, such as abuse or neglect, have been linked to an increased risk of developing schizophrenia.
5. Substance use: Substance use has been linked to an increased risk of developing schizophrenia, particularly cannabis and other psychotic substances.
There is no cure for schizophrenia, but treatment can help manage symptoms and improve quality of life. Treatment options include:
1. Medications: Antipsychotic medications are the primary treatment for schizophrenia. They can help reduce positive symptoms such as hallucinations and delusions, and negative symptoms such as a lack of motivation or interest in activities.
2. Therapy: Cognitive-behavioral therapy (CBT) and other forms of talk therapy can help individuals with schizophrenia manage their symptoms and improve their quality of life.
3. Social support: Support from family, friends, and support groups can be an important part of the treatment plan for individuals with schizophrenia.
4. Self-care: Engaging in activities that bring pleasure and fulfillment, such as hobbies or exercise, can help individuals with schizophrenia improve their overall well-being.
It is important to note that schizophrenia is a complex condition, and treatment should be tailored to the individual's specific needs and circumstances. With appropriate treatment and support, many people with schizophrenia are able to lead fulfilling lives and achieve their goals.
1) They share similarities with humans: Many animal species share similar biological and physiological characteristics with humans, making them useful for studying human diseases. For example, mice and rats are often used to study diseases such as diabetes, heart disease, and cancer because they have similar metabolic and cardiovascular systems to humans.
2) They can be genetically manipulated: Animal disease models can be genetically engineered to develop specific diseases or to model human genetic disorders. This allows researchers to study the progression of the disease and test potential treatments in a controlled environment.
3) They can be used to test drugs and therapies: Before new drugs or therapies are tested in humans, they are often first tested in animal models of disease. This allows researchers to assess the safety and efficacy of the treatment before moving on to human clinical trials.
4) They can provide insights into disease mechanisms: Studying disease models in animals can provide valuable insights into the underlying mechanisms of a particular disease. This information can then be used to develop new treatments or improve existing ones.
5) Reduces the need for human testing: Using animal disease models reduces the need for human testing, which can be time-consuming, expensive, and ethically challenging. However, it is important to note that animal models are not perfect substitutes for human subjects, and results obtained from animal studies may not always translate to humans.
6) They can be used to study infectious diseases: Animal disease models can be used to study infectious diseases such as HIV, TB, and malaria. These models allow researchers to understand how the disease is transmitted, how it progresses, and how it responds to treatment.
7) They can be used to study complex diseases: Animal disease models can be used to study complex diseases such as cancer, diabetes, and heart disease. These models allow researchers to understand the underlying mechanisms of the disease and test potential treatments.
8) They are cost-effective: Animal disease models are often less expensive than human clinical trials, making them a cost-effective way to conduct research.
9) They can be used to study drug delivery: Animal disease models can be used to study drug delivery and pharmacokinetics, which is important for developing new drugs and drug delivery systems.
10) They can be used to study aging: Animal disease models can be used to study the aging process and age-related diseases such as Alzheimer's and Parkinson's. This allows researchers to understand how aging contributes to disease and develop potential treatments.
Some common types of mental disorders include:
1. Anxiety disorders: These conditions cause excessive worry, fear, or anxiety that interferes with daily life. Examples include generalized anxiety disorder, panic disorder, and social anxiety disorder.
2. Mood disorders: These conditions affect a person's mood, causing feelings of sadness, hopelessness, or anger that persist for weeks or months. Examples include depression, bipolar disorder, and seasonal affective disorder.
3. Personality disorders: These conditions involve patterns of thought and behavior that deviate from the norm of the average person. Examples include borderline personality disorder, narcissistic personality disorder, and antisocial personality disorder.
4. Psychotic disorders: These conditions cause a person to lose touch with reality, resulting in delusions, hallucinations, or disorganized thinking. Examples include schizophrenia, schizoaffective disorder, and brief psychotic disorder.
5. Trauma and stressor-related disorders: These conditions develop after a person experiences a traumatic event, such as post-traumatic stress disorder (PTSD).
6. Dissociative disorders: These conditions involve a disconnection or separation from one's body, thoughts, or emotions. Examples include dissociative identity disorder (formerly known as multiple personality disorder) and depersonalization disorder.
7. Neurodevelopmental disorders: These conditions affect the development of the brain and nervous system, leading to symptoms such as difficulty with social interaction, communication, and repetitive behaviors. Examples include autism spectrum disorder, attention deficit hyperactivity disorder (ADHD), and Rett syndrome.
Mental disorders can be diagnosed by a mental health professional using the Diagnostic and Statistical Manual of Mental Disorders (DSM-5), which provides criteria for each condition. Treatment typically involves a combination of medication and therapy, such as cognitive-behavioral therapy or psychodynamic therapy, depending on the specific disorder and individual needs.
The word "edema" comes from the Greek word "oidema", meaning swelling.
The term ischemia refers to the reduction of blood flow, and it is often used interchangeably with the term stroke. However, not all strokes are caused by ischemia, as some can be caused by other factors such as bleeding in the brain. Ischemic stroke accounts for about 87% of all strokes.
There are different types of brain ischemia, including:
1. Cerebral ischemia: This refers to the reduction of blood flow to the cerebrum, which is the largest part of the brain and responsible for higher cognitive functions such as thought, emotion, and voluntary movement.
2. Cerebellar ischemia: This refers to the reduction of blood flow to the cerebellum, which is responsible for coordinating and regulating movement, balance, and posture.
3. Brainstem ischemia: This refers to the reduction of blood flow to the brainstem, which is responsible for controlling many of the body's automatic functions such as breathing, heart rate, and blood pressure.
4. Territorial ischemia: This refers to the reduction of blood flow to a specific area of the brain, often caused by a blockage in a blood vessel.
5. Global ischemia: This refers to the reduction of blood flow to the entire brain, which can be caused by a cardiac arrest or other systemic conditions.
The symptoms of brain ischemia can vary depending on the location and severity of the condition, but may include:
1. Weakness or paralysis of the face, arm, or leg on one side of the body
2. Difficulty speaking or understanding speech
3. Sudden vision loss or double vision
4. Dizziness or loss of balance
5. Confusion or difficulty with memory
6. Seizures
7. Slurred speech or inability to speak
8. Numbness or tingling sensations in the face, arm, or leg
9. Vision changes, such as blurred vision or loss of peripheral vision
10. Difficulty with coordination and balance.
It is important to seek medical attention immediately if you experience any of these symptoms, as brain ischemia can cause permanent damage or death if left untreated.
The symptoms of a brain abscess can vary depending on the location and size of the abscess, but may include:
* Headache
* Fever
* Confusion or disorientation
* Seizures
* Weakness or numbness in the arms or legs
* Vision problems
* Speech difficulties
If a brain abscess is suspected, a doctor will typically perform a physical examination and order imaging tests such as CT or MRI scans to confirm the diagnosis. Treatment usually involves antibiotics to treat the underlying infection, as well as surgery to drain the abscess and remove any infected tissue. In severe cases, hospitalization may be necessary to monitor and treat the patient.
With prompt and appropriate treatment, most people with a brain abscess can recover fully or almost fully, but in some cases, the condition can result in long-term complications such as memory loss, cognitive impairment, or personality changes. In rare instances, a brain abscess can be fatal if not treated promptly and properly.
Brain hypoxia is a serious medical condition that requires prompt treatment to prevent long-term damage and improve outcomes for patients. Treatment options may include oxygen therapy, medications to improve blood flow to the brain, and surgery to remove any blockages or obstructions in blood vessels.
Some common causes of chronic brain damage include:
1. Traumatic brain injury (TBI): A blow to the head or other traumatic injury that causes the brain to bounce or twist inside the skull, leading to damage to brain cells and tissues.
2. Stroke or cerebral vasculature disorders: A loss of blood flow to the brain due to a blockage or rupture of blood vessels, leading to cell death and tissue damage.
3. Infections such as meningitis or encephalitis: Inflammation of the brain and its membranes caused by viral or bacterial infections, which can lead to damage to brain cells and tissues.
4. Chronic exposure to toxins, such as pesticides or heavy metals: Prolonged exposure to these substances can damage brain cells and tissues over time.
5. Neurodegenerative diseases, such as Alzheimer's disease or Parkinson's disease: These conditions are characterized by the progressive loss of brain cells and tissue, leading to cognitive decline and other symptoms.
The effects of chronic brain damage can vary depending on the location and severity of the damage. Some common effects include:
1. Cognitive impairments: Difficulty with memory, attention, problem-solving, and other cognitive functions.
2. Emotional and behavioral changes: Depression, anxiety, irritability, and mood swings.
3. Physical symptoms: Weakness or paralysis on one side of the body, difficulty with balance and coordination, and changes in sensation or perception.
4. Communication difficulties: Slurred speech, difficulty finding the right words, and trouble understanding spoken language.
5. Social and occupational impairments: Difficulty with daily activities, social interactions, and work-related tasks.
The good news is that there are several strategies that can help mitigate the effects of chronic brain damage. These include:
1. Physical exercise: Regular physical activity has been shown to promote brain health and reduce the risk of cognitive decline.
2. Cognitive stimulation: Engaging in mentally challenging activities, such as reading, puzzles, or learning a new skill, can help build cognitive reserve and reduce the risk of cognitive decline.
3. Social engagement: Building and maintaining social connections has been shown to promote brain health and reduce the risk of cognitive decline.
4. Stress management: Chronic stress can exacerbate brain damage, so finding ways to manage stress, such as through meditation or exercise, is important.
5. Proper nutrition: Eating a diet rich in fruits, vegetables, and omega-3 fatty acids can help support brain health and reduce the risk of cognitive decline.
6. Medication and therapy: In some cases, medication or therapy may be necessary to manage the symptoms of chronic brain damage.
7. Neuroplasticity-based interventions: Techniques that promote neuroplasticity, such as non-invasive brain stimulation, can help improve cognitive function and reduce the risk of cognitive decline.
It's important to note that these strategies may not reverse chronic brain damage, but they can help mitigate its effects and improve overall brain health. If you suspect that you or someone you know may be experiencing chronic brain damage, it is important to seek medical attention as soon as possible. Early diagnosis and treatment can help reduce the risk of long-term cognitive decline and improve quality of life.
Metabolic disorder
List of MeSH codes (C18)
List of MeSH codes (C16)
Pyroglutamic acid
Monoamine precursor
List of MeSH codes (C10)
Encephalopathy
Hypotonia
Inborn errors of carbohydrate metabolism
Combined malonic and methylmalonic aciduria
Psychosis
Neonatal seizure
Neurodevelopmental disorder
Lysine
Emil Kraepelin
Maple syrup urine disease
Reye syndrome
Aldehyde dehydrogenase 6 family, member A1
Glycogen storage disease
Succinic semialdehyde dehydrogenase deficiency
Spongy degeneration of the central nervous system
Fatigue
Hypopituitarism
Steroidogenic enzyme
Glycine encephalopathy
Galactosemia
Alpha-aminoadipic semialdehyde synthase
Forrester Cockburn
Occipital horn syndrome
Methylmalonic acidemia
Metabolism
Congenital disorder of glycosylation
Menkes disease
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Cystathionine beta synthase
Central sleep apnea
Inborn errors of metabolism
Microcephaly
Cat
Fructolysis
Intelligence quotient
Fever
Andrea Superti-Furga
Smith-Lemli-Opitz syndrome
Ornithine aminotransferase deficiency
Beta oxidation
Carnosinemia
Neuritis
Tay-Sachs disease
Homeostasis
Metabolome
Glycogen storage disease type I
Vitamin B6
Tyrosine
Ketotic hypoglycemia
Riboflavin
Treatment Protocol of Replagal for Patients With Fabry Disease - Full Text View - ClinicalTrials.gov
Genetic Brain Disorders | MedlinePlus
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 2 - Ontology Report - Rat Genome Database
Advanced Search Results - Public Health Image Library(PHIL)
DeCS - Termos Novos
DeCS
HuGE Navigator|Genopedia|PHGKB
Encephalopathy - Wikipedia
Amyloid neuropathies. Medical search
Pesquisa | Portal Regional da BVS
What is the definition of Jackknife seizure? | Dictionary.net
Metabolic Disorders | Kennedy Krieger Institute
DeCS - Termos Novos
DeCS - Termos Novos
Metabolic Problems: MedlinePlus
May 2, 2016 - Pediatric Education
Loterre: MeSH: Phenylketonurias
Marchiafava-Bignami Disease | Profiles RNS
The treatable intellectual disability APP www.treatable-id.org: A digital tool to enhance diagnosis & care for rare diseases |...
SSIEM - Dr Cheuk Wing Fung
Feeding Problems, Pediatric | 5-Minute Emergency Consult
Portal Regional da BVS
Menkes Kinky Hair Syndrome (medical concept explorer)
Orphanet: Search by disease/gene
Lysosomal Storage Diseases, Nervous System | Profiles RNS
Christopher Hopkins - ClinPhen Journey
Maximize Your Metabolism by Noel Maclaren, MD | Hachette Book Group
View source for Primary carnitine deficiency - wikidoc
Errors12
- Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. (bvsalud.org)
- a condition caused by high levels of ammonia , which is due to inborn errors of metabolism (including urea cycle disorder or multiple carboxylase deficiency ), a diet with excessive levels of protein , deficiencies of specific nutrients such as arginine or biotin , or organ failure. (wikipedia.org)
- Genetic metabolic diseases are congenital errors of the body's chemistry that affect the way in which food is assimilated, energy generated and tissue growth enabled. (kennedykrieger.org)
- Congenital lactic acidosis is secondary to inborn errors of metabolism, such as defects in gluconeogenesis, pyruvate dehydrogenase, the tricarboxylic acid (TCA) cycle, or the respiratory chain. (medscape.com)
- In this blog post, we will focus on models of Inborn Errors of Metabolism (IEM) and describe how these genetic conditions can lead to hypersensitivity to a metabolite. (clinphen.org)
- This study reports on the use of whole exome sequencing (WES) to diagnose children with inborn errors of metabolism and other disorders in United Arab Emirates. (biomedcentral.com)
- WES confirmed inborn errors of metabolism (five mitochondrial diseases, three lysosomal storage diseases, and six other disorders) in 14 patients and genetic disorders (14 neurological diseases and three non-neurological diseases) in 17 patients. (biomedcentral.com)
- Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism . (chemeurope.com)
- Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic diseases , and these terms are considered synonymous. (chemeurope.com)
- His seminal text, Inborn Errors of Metabolism was published in 1923. (chemeurope.com)
- 1) Evaluation of the 18-month "Pilot Study of Newborn Screening for Inborn Errors of Metabolism" in Hong Kong. (stemlife.com)
- Inborn errors of metabolism / editors, Jèurgen Schaub, Fran ois Van Hoof, Henri L. Vis. (who.int)
Disorders14
- Genetic brain disorders affect the development and function of the brain. (medlineplus.gov)
- Some genetic brain disorders are due to random gene mutations or mutations caused by environmental exposure, such as cigarette smoke. (medlineplus.gov)
- Many people with genetic brain disorders fail to produce enough of certain proteins that influence brain development and function. (medlineplus.gov)
- These brain disorders can cause serious problems that affect the nervous system. (medlineplus.gov)
- Most metabolic disorders are caused by the genetic deficiency of an enzyme that is needed to convert one chemical into another. (kennedykrieger.org)
- Other adverse effects of metabolic diseases include seizures, movement disorders, poor growth, muscle weakness, fasting intolerance and disproportionate illness with simple childhood infections or immunizations. (kennedykrieger.org)
- In the case of metabolic disorders, the high degree of sequence conservation in these ancient genes often enable the human gene to rescue the function of the removed ortholog (the animal's version of the disease gene). (clinphen.org)
- In fact, with the control of diarrhea and other infectious illnesses, parasitosis and severe malnutrition ( de Céspedes 1991 ), chronic diseases such as cardiovascular disorders, cancer, congenital malformations, metabolic diseases and psychiatric disorders ( de Céspedes et a l. 1996b ) started to emerge. (scielo.sa.cr)
- Traditionally the inherited metabolic diseases were categorized as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases . (chemeurope.com)
- Before diagnosing RS, physicians should rule out any of the approximately 20 metabolic disorders that may mimic RS, particularly in infants and small children (2,9-11). (cdc.gov)
- These genetic disorders include subsets of inherited arrhythmias, cardiomyopathies, vascular diseases and/or structural heart defects with heterogeneous clinical presentations, variable penetrance and expression, making identification of the disease-causing genes challenging. (mouseclinic.de)
- The screening test offered under the brand is conducted by Cordlife (Hong Kong) Ltd., laboratory committed to providing early and accurate detection of metabolic disorders in newborn babies. (stemlife.com)
- Relief's clinical development program currently focuses on pulmonary diseases and rare genetic, metabolic, and connective tissue disorders, with particular emphasis on conditions with dermatological manifestations. (relieftherapeutics.com)
- Εκπόνησε την διδακτορική της διατριβή με θέμα "Studies on the Factors Involved in the Secretion of Enzymic and non-Enzymic Contents of Rat Liver Lysosomes" στο Τμήμα Ενδογενών Μεταβολικών Νοσημάτων (Division of Inherited Metabolic Disorders) του Κλινικού Κέντρου Ερευνών (Clinical Research Centre), Northwick Park Hospital, στο Λονδίνο, Internal Student στο Πανεπιστήμιο. (ich.gr)
Metabolism3
- Lactic acidosis, on the other hand, is associated with major metabolic dysregulation, tissue hypoperfusion, the effects of certain drugs or toxins, and congenital abnormalities in carbohydrate metabolism. (medscape.com)
- The term inborn error of metabolism was coined by a British physician, Archibald Garrod (1857-1936), in the early 20th century (1908). (chemeurope.com)
- A rare disorder of phenylalanine (Phe) metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in non-phenylketonuric offspring of mothers with excess blood Phe concentrations. (nih.gov)
Syndrome2
- An amyloid fibrillar form of these peptides is the major component of amyloid plaques found in individuals with Alzheimer's disease and in aged individuals with trisomy 21 (DOWN SYNDROME). (lookformedical.com)
- AIDS-like syndrome: AIDS-like disease (illness) (syndrome) ARC AIDS-related complex Pre-AIDS AIDS-related conditions Prodromal-AIDS 3. (cdc.gov)
Mitochondrial2
- Metabolic disorder caused by dysfunction of mitochondrial DNA. (wikipedia.org)
- Medicine sheds light on the UQCRH gene and mitochondrial complex III diseases. (mouseclinic.de)
Congenital metabol1
- Because of the enormous number of these diseases and wide range of systems affected, nearly every "presenting complaint" to a doctor may have a congenital metabolic disease as a possible cause, especially in childhood. (chemeurope.com)
MeSH3
- 5 disease terms (MeSH) has been reported with SLC6A8 gene. (cdc.gov)
- Marchiafava-Bignami Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (ouhsc.edu)
- Lysosomal Storage Diseases, Nervous System" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (sdsu.edu)
Familial1
- A group of sporadic, familial and/or inherited, degenerative, and infectious disease processes, linked by the common theme of abnormal protein folding and deposition of AMYLOID. (lookformedical.com)
Canavan Disease2
- Canavan disease is a progressive and fatal cerebral degenerative disease that begins in infancy. (stemlife.com)
- Many children do not live past age 10.Although there is currently no cure for Canavan disease, the present treatment involves managing the symptoms. (stemlife.com)
Centers for Diseas2
Infections2
- CLASSIFICATION OF DISEASES AND INJURIES I. INFECTIOUS AND PARASITIC DISEASES (001-139) Includes: diseases generally recognized as communicable or transmissible as well as a few diseases of unknown but possibly infectious origin Excludes: acute respiratory infections (460-466) influenza (487. (cdc.gov)
- certain localized infections Note: Categories for "late effects" of infectious and parasitic diseases are to be found at 137. (cdc.gov)
Newborn Screening2
- Although all state newborn screening programs test for metabolic diseases, most states test for fewer than 10 of the more common ones. (kennedykrieger.org)
- Follow-up Testing for Metabolic Diseases Identified by Expanded Newborn Screening Using Tandem Mass Spectrometry. (stemlife.com)
Hereditary1
- The clinical observation, mainly starting from early 70s, of a growing number of patients with mental retardation and other disabilities caused by congenital hypothyroidism and hereditary metabolic diseases that could have been prevented in many cases with an early diagnosis and opportune treatment, led us to the decision to implement a systematically massive neonatal screening for these diseases. (scielo.sa.cr)
Acidosis8
- With a persistent oxygen debt and overwhelming of the body's buffering abilities (whether from long-term dysfunction or excessive production), hyperlacticaemia and metabolic acidosis ensue, commonly referred to as lactic acidosis. (medscape.com)
- By the turn of the 20th century, many physicians recognized that patients who are critically ill could exhibit metabolic acidosis unaccompanied by elevation of ketones or other measurable anions. (medscape.com)
- It also occurs as a result on markedly increased transient metabolic demand (eg, postseizure lactic acidosis). (medscape.com)
- The development of lactic acidosis depends on the magnitude of hyperlactatemia, the buffering capacity of the body, and the coexistence of other conditions that produce tachypnea and alkalosis (eg, liver disease, sepsis). (medscape.com)
- Classically, metabolic acidosis is defined as a state of decreased systemic pH resulting from either a primary increase in hydrogen ion (H + ) or a reduction in bicarbonate (HCO 3 - ) concentrations. (medscape.com)
- The underlying etiology of metabolic acidosis is classically categorized into those causes that result in an elevated anion gap (AG) (see the Anion Gap calculator) and those that do not. (medscape.com)
- Lactic acidosis (LA), identified by an accumulation of plasma lactate concentration, is one type of anion gap metabolic acidosis and may manifest from numerous conditions. (medscape.com)
- Lactic acidosis remains the most common cause of metabolic acidosis in hospitalized patients. (medscape.com)
Prevalence1
- The control of infectious and parasitic diseases, as well as of severe malnutrition, has given room to a prevalence of chronic diseases with a pathology profile similar to that of a developed country. (scielo.sa.cr)
Enzymatic1
- In the above example, the second enzyme of the metabolic pathway, "ENZ 2," is the cause of a genetic disease that inhibits the enzymatic conversion of metabolite 2 into metabolite 3. (clinphen.org)
Variants2
- Clinical variants disrupting metabolic gene can lead to build up of toxic metabolites (Figure 1). (clinphen.org)
- There are no known Mendelian diseases caused by variants in RABGAP1 yet. (mouseclinic.de)
Viral2
- Acute necrotizing encephalopathy , rare disease that occurs following a viral infection. (wikipedia.org)
- Reported by: Epidemiology Office, Div of Viral and Rickettsial Diseases, Center for Infectious Diseases, CDC. (cdc.gov)
Examples1
- Following are some of the major classes of congenital metabolic diseases, with prominent examples of each class. (chemeurope.com)
Metabolites1
- This phenomenon can be used to create a functional assay where the model system has hypersensitivity to metabolites upstream of the gene's function in a metabolic pathway. (clinphen.org)
Nervous system3
- Can affect many body systems, particularly the brain and nervous system. (wikipedia.org)
- This graph shows the total number of publications written about "Lysosomal Storage Diseases, Nervous System" by people in this website by year, and whether "Lysosomal Storage Diseases, Nervous System" was a major or minor topic of these publications. (sdsu.edu)
- Below are the most recent publications written about "Lysosomal Storage Diseases, Nervous System" by people in Profiles. (sdsu.edu)
Fabry Disease4
- This study will evaluate the safety and efficacy of Replagal in patients with Fabry disease who are either naive to treatment, who were previously treated with agalsidase beta, or who had previously received Replagal. (clinicaltrials.gov)
- Patients diagnosed with Fabry disease who have not previously received treatment, who have received agalsidase beta, or who had previously received Replagal will be eligible to enroll in the study and will receive Replagal at a dose of 0.2 mg/kg body weight administered by an IV infusion over 40 minutes every other week. (clinicaltrials.gov)
- An Open-label Treatment Protocol to Evaluate the Safety of Replagal Treatment in Patients With Fabry Disease. (clinicaltrials.gov)
- Confirmed diagnosis of Fabry disease. (clinicaltrials.gov)
Infectious diseases1
- In Ireland the state funded immunization program protects against 14 infectious diseases including HPV. (hrb.ie)
Collectively2
- Although each metabolic disease individually is rare, there are more than 1,300 known metabolic diseases, and collectively they represent a significant cause of illness and disability in children. (kennedykrieger.org)
- Monogenic diseases are individually rare but collectively quite common, posing a huge burden on families and society. (mouseclinic.de)
Manifest1
- Some metabolic diseases become manifest in the first few days of life, whereas others require a stress, such as a fever or fasting during an illness, to become manifest. (kennedykrieger.org)
Gene4
- A genetic brain disorder is caused by a variation or a mutation in a gene. (medlineplus.gov)
- Starting with the simple model organisms, a human gene associated with disease can be installed as a gene replacement. (clinphen.org)
- This inherited genetic abnormality is caused by mutations in the gene for an enzyme which causes deterioration of the white matter (myelin) in the brain Symptoms such as mental retardation, lack of head control etc, usually become noticeable at the age of three to nine months old. (stemlife.com)
- RareSource offers rare disease gene variant annotations and links to rare disease gene literature. (nih.gov)
Molecular1
- Molecular basis of endocrine diseases / editors, Aldo Isidori, Maria I. New, Carlos Pav'ia Sesma. (who.int)
Tissue1
- A collection of diseases all caused by prions, and characterized by "spongy" brain tissue (riddled with holes), impaired locomotion or coordination, and a 100% mortality rate. (wikipedia.org)
Dysfunction2
- A catch-all for brain dysfunction caused by infection, organ failure, or intoxication. (wikipedia.org)
- Excessive levels of phenylalanine in the blood results in its accumulation in the brain, which hinders brain development and results in neurophysiological dysfunction. (relieftherapeutics.com)
Physiology1
- Metabolic and endocrine physiology : an introductory text / Jay Tepperman. (who.int)
Arrhythmias1
- Monogenic cardio vascular diseases encompass a wide range of phenotypes that result in coronary artery disease, heart failure, aortic dissection and malignant ventricular arrhythmias. (mouseclinic.de)
Severe2
- The deficiency of phenylalanine hydroxylase leads to the accumulation of a toxic level of phenylalanine and a deficiency of tyrosine, both of which damage the developing brain and cause severe intellectual disabilities. (kennedykrieger.org)
- The most severe metabolic diseases can be lethal if not treated immediately after birth, while others may cause only very slow injury or lead to a damaging metabolic crisis only once in a lifetime. (kennedykrieger.org)
Rare3
- WES is especially efficient in detecting rare mutations in autosomal recessive diseases in consanguineous families. (biomedcentral.com)
- Many rare diseases have limited information. (nih.gov)
- Although extremely rare, neonatologists must understand the disease because it can be fatal and require emergency treatment after birth. (qxmd.com)
Crisis1
- He sat alone at 7.5 months, develop motor disease without overt crisis was crawling and pulling to stand at 8 and other biochemically affected individu- months and by 10 months he had 1 or 2 als remain asymptomatic [ 3-8 ]. (who.int)
Chronic2
- ἐνκέφαλος "brain" + πάθος "suffering") means any disorder or disease of the brain , especially chronic degenerative conditions. (wikipedia.org)
- However, we should go much further in the case of chronic diseases, being that their prevention is much more complex and they require approaches based on new technologies. (scielo.sa.cr)
Mental Retardation1
- Also to this date, 259 children with congenital hypothyroidism, 18 with phenylketonuria, 20 with the maple syrup disease, 30 with congenital adrenal hyperplasia and 10 with galactosemia have been detected, confirmed and treated, for a total of 337 children that were spared of mental retardation, other disabilities and even death. (scielo.sa.cr)
Grow2
- Macrocephaly was noted at birth, and rocephaly, frontotemporal brain atrophy his head circumference continued to grow and acute encephalopathic episodes char- parallel to the 98th centile. (who.int)
- Children's Brains Grow the Most in the First 5 Years of Life and reach 90% of their Final Size During This Time. (lifesourcevitamins.com)
Deficiency1
- These genetically engineered model systems enable fast and affordable phenotypic screens in whole organism format to enable researchers to find molecules that alleviate the metabolic stress occurring from an IEM deficiency. (clinphen.org)
Proteins1
- The amyloid structure has also been found in a number of functional proteins that are unrelated to disease. (lookformedical.com)
