Rare congenital X-linked disorder of lipid metabolism. Barth syndrome is transmitted in an X-linked recessive pattern. The syndrome is characterized by muscular weakness, growth retardation, DILATED CARDIOMYOPATHY, variable NEUTROPENIA, 3-methylglutaconic aciduria (type II) and decreases in mitochondrial CARDIOLIPIN level. Other biochemical and morphological mitochondrial abnormalities also exist.
Acidic phospholipids composed of two molecules of phosphatidic acid covalently linked to a molecule of glycerol. They occur primarily in mitochondrial inner membranes and in bacterial plasma membranes. They are the main antigenic components of the Wassermann-type antigen that is used in nontreponemal SYPHILIS SERODIAGNOSIS.
A characteristic symptom complex.
Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.
Glutarates are organic compounds, specifically carboxylic acids, that contain a five-carbon chain with two terminal carboxyl groups and a central methyl group, playing a role in various metabolic processes, including the breakdown of certain amino acids. They can also refer to their salts or esters. Please note that this definition is concise and may not cover all aspects of glutarates in depth.
A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein.
Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.
An enzyme localized predominantly within the plasma membrane of lymphocytes. It catalyzes the transfer of long-chain fatty acids, preferentially unsaturated fatty acids, to lysophosphatides with the formation of 1,2-diacylglycero-3-phosphocholine and CoA. EC 2.3.1.23.
A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).
The two lipoprotein layers in the MITOCHONDRION. The outer membrane encloses the entire mitochondrion and contains channels with TRANSPORT PROTEINS to move molecules and ions in and out of the organelle. The inner membrane folds into cristae and contains many ENZYMES important to cell METABOLISM and energy production (MITOCHONDRIAL ATP SYNTHASE).
Deviations from the average values for a specific age and sex in any or all of the following: height, weight, skeletal proportions, osseous development, or maturation of features. Included here are both acceleration and retardation of growth.
A decrease in the number of NEUTROPHILS found in the blood.
Derivatives of PHOSPHATIDIC ACIDS that lack one of its fatty acyl chains due to its hydrolytic removal.
Enzymes from the transferase class that catalyze the transfer of acyl groups from donor to acceptor, forming either esters or amides. (From Enzyme Nomenclature 1992) EC 2.3.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Semiautonomous, self-reproducing organelles that occur in the cytoplasm of all cells of most, but not all, eukaryotes. Each mitochondrion is surrounded by a double limiting membrane. The inner membrane is highly invaginated, and its projections are called cristae. Mitochondria are the sites of the reactions of oxidative phosphorylation, which result in the formation of ATP. They contain distinctive RIBOSOMES, transfer RNAs (RNA, TRANSFER); AMINO ACYL T RNA SYNTHETASES; and elongation and termination factors. Mitochondria depend upon genes within the nucleus of the cells in which they reside for many essential messenger RNAs (RNA, MESSENGER). Mitochondria are believed to have arisen from aerobic bacteria that established a symbiotic relationship with primitive protoeukaryotes. (King & Stansfield, A Dictionary of Genetics, 4th ed)
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.
Messages between computer users via COMPUTER COMMUNICATION NETWORKS. This feature duplicates most of the features of paper mail, such as forwarding, multiple copies, and attachments of images and other file types, but with a speed advantage. The term also refers to an individual message sent in this way.
Sequential operating programs and data which instruct the functioning of a digital computer.
A loose confederation of computer communication networks around the world. The networks that make up the Internet are connected through several backbone networks. The Internet grew out of the US Government ARPAnet project and was designed to facilitate information exchange.
The portion of an interactive computer program that issues messages to and receives commands from a user.

Mitochondrial cardiolipin involved in outer-membrane protein biogenesis: implications for Barth syndrome. (1/22)

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Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth. (2/22)

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Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway. (3/22)

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Cardiac and skeletal muscle defects in a mouse model of human Barth syndrome. (4/22)

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Characterization of a transgenic short hairpin RNA-induced murine model of Tafazzin deficiency. (5/22)

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Barth syndrome mutations that cause tafazzin complex lability. (6/22)

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Impaired cardiac reserve and severely diminished skeletal muscle O(2) utilization mediate exercise intolerance in Barth syndrome. (7/22)

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Substrate metabolism during basal and hyperinsulinemic conditions in adolescents and young-adults with Barth syndrome. (8/22)

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Barth syndrome is a rare X-linked genetic disorder that primarily affects boys. It is caused by mutations in the TAFazzin (TAZ) gene, which provides instructions for making a protein involved in the formation of energy-producing structures called mitochondria within cells.

The main features of Barth syndrome include:
1. Cardiomyopathy: Weakened heart muscle (cardiomyopathy) that can lead to heart failure and life-threatening arrhythmias.
2. Neutropenia: Low levels of white blood cells called neutrophils, which increases the risk of recurrent infections.
3. Skeletal muscle weakness: Weakness and wasting of skeletal muscles, leading to decreased exercise tolerance and mobility issues.
4. Growth delay: Slowed growth and development during childhood.
5. Fatigue: Persistent fatigue and reduced endurance.
6. Arrhythmias: Irregular heart rhythms.
7. Low levels of carnitine, a nutrient that helps transport fatty acids into mitochondria for energy production.

Treatment for Barth syndrome is primarily supportive and focuses on addressing the specific symptoms and complications present in each individual case. This may include medications to manage heart function, antibiotics to treat infections, physical therapy to improve muscle strength and mobility, and dietary supplements like carnitine. Regular monitoring by a multidisciplinary team of healthcare professionals is essential for managing the condition effectively.

Cardiolipins are a type of phospholipid that are primarily found in the inner mitochondrial membrane of cells. They play a crucial role in several important cellular processes, including energy production, apoptosis (programmed cell death), and maintenance of the structural integrity of the mitochondria.

Cardiolipins are unique because they contain four fatty acid chains, whereas most other phospholipids contain only two. This gives cardiolipins a distinctive conical shape that is important for their function in maintaining the curvature and stability of the inner mitochondrial membrane.

Cardiolipins have also been implicated in various diseases, including neurodegenerative disorders, cancer, and bacterial infections. For example, changes in cardiolipin composition or distribution have been linked to mitochondrial dysfunction in Parkinson's disease and other neurological conditions. Additionally, certain bacteria, such as Neisseria gonorrhoeae and Chlamydia trachomatis, can manipulate host cell cardiolipins to facilitate their own survival and replication.

In summary, cardiolipins are essential phospholipids found in the inner mitochondrial membrane that play a critical role in several cellular processes, and have been implicated in various diseases.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

X-linked genetic diseases refer to a group of disorders caused by mutations in genes located on the X chromosome. These conditions primarily affect males since they have only one X chromosome and therefore don't have a second normal copy of the gene to compensate for the mutated one. Females, who have two X chromosomes, are typically less affected because they usually have one normal copy of the gene on their other X chromosome.

Examples of X-linked genetic diseases include Duchenne and Becker muscular dystrophy, hemophilia A and B, color blindness, and fragile X syndrome. Symptoms and severity can vary widely depending on the specific condition and the nature of the genetic mutation involved. Treatment options depend on the particular disease but may include physical therapy, medication, or in some cases, gene therapy.

Glutarates are compounds that contain a glutaric acid group. Glutaric acid is a carboxylic acid with a five-carbon chain and two carboxyl groups at the 1st and 5th carbon positions. Glutarates can be found in various substances, including certain foods and medications.

In a medical context, glutarates are sometimes used as ingredients in pharmaceutical products. For example, sodium phenylbutyrate, which is a salt of phenylbutyric acid and butyric acid, contains a glutaric acid group and is used as a medication to treat urea cycle disorders.

Glutarates can also be found in some metabolic pathways in the body, where they play a role in energy production and other biochemical processes. However, abnormal accumulation of glutaric acid or its derivatives can lead to certain medical conditions, such as glutaric acidemia type I, which is an inherited disorder of metabolism that can cause neurological symptoms and other health problems.

Dilated cardiomyopathy (DCM) is a type of cardiomyopathy characterized by the enlargement and weakened contraction of the heart's main pumping chamber (the left ventricle). This enlargement and weakness can lead to symptoms such as shortness of breath, fatigue, and fluid retention. DCM can be caused by various factors including genetics, viral infections, alcohol and drug abuse, and other medical conditions like high blood pressure and diabetes. It is important to note that this condition can lead to heart failure if left untreated.

Muscular diseases, also known as myopathies, refer to a group of conditions that affect the functionality and health of muscle tissue. These diseases can be inherited or acquired and may result from inflammation, infection, injury, or degenerative processes. They can cause symptoms such as weakness, stiffness, cramping, spasms, wasting, and loss of muscle function.

Examples of muscular diseases include:

1. Duchenne Muscular Dystrophy (DMD): A genetic disorder that results in progressive muscle weakness and degeneration due to a lack of dystrophin protein.
2. Myasthenia Gravis: An autoimmune disease that causes muscle weakness and fatigue, typically affecting the eyes and face, throat, and limbs.
3. Inclusion Body Myositis (IBM): A progressive muscle disorder characterized by muscle inflammation and wasting, typically affecting older adults.
4. Polymyositis: An inflammatory myopathy that causes muscle weakness and inflammation throughout the body.
5. Metabolic Myopathies: A group of inherited disorders that affect muscle metabolism, leading to exercise intolerance, muscle weakness, and other symptoms.
6. Muscular Dystonias: Involuntary muscle contractions and spasms that can cause abnormal postures or movements.

It is important to note that muscular diseases can have a significant impact on an individual's quality of life, mobility, and overall health. Proper diagnosis and treatment are crucial for managing symptoms and improving outcomes.

1-Acylglycerophosphocholine O-Acyltransferase is an enzyme that belongs to the family of transferases, specifically those acyltransferases transferring groups other than aminoacyl groups. It is responsible for catalyzing the reaction that transfers an acyl group from an acyl-CoA to the sn-2 position of 1-acylglycerophosphocholine, resulting in the formation of phosphatidylcholine, which is a major component of biological membranes. This enzyme plays a crucial role in lipid metabolism and has been implicated in various diseases, including atherosclerosis, non-alcoholic fatty liver disease, and cancer.

Cardiomyopathies are a group of diseases that affect the heart muscle, leading to mechanical and/or electrical dysfunction. The American Heart Association (AHA) defines cardiomyopathies as "a heterogeneous group of diseases of the myocardium associated with mechanical and/or electrical dysfunction that usually (but not always) exhibit inappropriate ventricular hypertrophy or dilatation and frequently lead to heart failure."

There are several types of cardiomyopathies, including:

1. Dilated cardiomyopathy (DCM): This is the most common type of cardiomyopathy, characterized by an enlarged left ventricle and impaired systolic function, leading to heart failure.
2. Hypertrophic cardiomyopathy (HCM): In this type, there is abnormal thickening of the heart muscle, particularly in the septum between the two ventricles, which can obstruct blood flow and increase the risk of arrhythmias.
3. Restrictive cardiomyopathy (RCM): This is a rare form of cardiomyopathy characterized by stiffness of the heart muscle, impaired relaxation, and diastolic dysfunction, leading to reduced filling of the ventricles and heart failure.
4. Arrhythmogenic right ventricular cardiomyopathy (ARVC): In this type, there is replacement of the normal heart muscle with fatty or fibrous tissue, primarily affecting the right ventricle, which can lead to arrhythmias and sudden cardiac death.
5. Unclassified cardiomyopathies: These are conditions that do not fit into any of the above categories but still significantly affect the heart muscle and function.

Cardiomyopathies can be caused by genetic factors, acquired conditions (e.g., infections, toxins, or autoimmune disorders), or a combination of both. The diagnosis typically involves a comprehensive evaluation, including medical history, physical examination, electrocardiogram (ECG), echocardiography, cardiac magnetic resonance imaging (MRI), and sometimes genetic testing. Treatment depends on the type and severity of the condition but may include medications, lifestyle modifications, implantable devices, or even heart transplantation in severe cases.

Mitochondrial membranes refer to the double-layered structure that surrounds the mitochondrion, an organelle found in the cells of most eukaryotes. The outer mitochondrial membrane is a smooth, porous membrane that allows small molecules and ions to pass through freely, while the inner mitochondrial membrane is highly folded and selectively permeable, controlling the movement of larger molecules and maintaining the electrochemical gradient necessary for ATP synthesis. The space between the two membranes is called the intermembrane space, and the space within the inner membrane is called the matrix. Together, these membranes play a crucial role in energy production, metabolism, and cellular homeostasis.

Growth disorders are medical conditions that affect a person's growth and development, leading to shorter or taller stature than expected for their age, sex, and ethnic group. These disorders can be caused by various factors, including genetic abnormalities, hormonal imbalances, chronic illnesses, malnutrition, and psychosocial issues.

There are two main types of growth disorders:

1. Short stature: This refers to a height that is significantly below average for a person's age, sex, and ethnic group. Short stature can be caused by various factors, including genetic conditions such as Turner syndrome or dwarfism, hormonal deficiencies, chronic illnesses, malnutrition, and psychosocial issues.
2. Tall stature: This refers to a height that is significantly above average for a person's age, sex, and ethnic group. Tall stature can be caused by various factors, including genetic conditions such as Marfan syndrome or Klinefelter syndrome, hormonal imbalances, and certain medical conditions like acromegaly.

Growth disorders can have significant impacts on a person's physical, emotional, and social well-being. Therefore, it is essential to diagnose and manage these conditions early to optimize growth and development and improve overall quality of life. Treatment options for growth disorders may include medication, nutrition therapy, surgery, or a combination of these approaches.

Neutropenia is a condition characterized by an abnormally low concentration (less than 1500 cells/mm3) of neutrophils, a type of white blood cell that plays a crucial role in fighting off bacterial and fungal infections. Neutrophils are essential components of the innate immune system, and their main function is to engulf and destroy microorganisms that can cause harm to the body.

Neutropenia can be classified as mild, moderate, or severe based on the severity of the neutrophil count reduction:

* Mild neutropenia: Neutrophil count between 1000-1500 cells/mm3
* Moderate neutropenia: Neutrophil count between 500-1000 cells/mm3
* Severe neutropenia: Neutrophil count below 500 cells/mm3

Severe neutropenia significantly increases the risk of developing infections, as the body's ability to fight off microorganisms is severely compromised. Common causes of neutropenia include viral infections, certain medications (such as chemotherapy or antibiotics), autoimmune disorders, and congenital conditions affecting bone marrow function. Treatment for neutropenia typically involves addressing the underlying cause, administering granulocyte-colony stimulating factors to boost neutrophil production, and providing appropriate antimicrobial therapy to prevent or treat infections.

Lysophospholipids are a type of glycerophospholipid, which is a major component of cell membranes. They are characterized by having only one fatty acid chain attached to the glycerol backbone, as opposed to two in regular phospholipids. This results in a more polar and charged molecule, which can play important roles in cell signaling and regulation.

Lysophospholipids can be derived from the breakdown of regular phospholipids through the action of enzymes such as phospholipase A1 or A2. They can also be synthesized de novo in the cell. Some lysophospholipids, such as lysophosphatidic acid (LPA) and sphingosine-1-phosphate (S1P), have been found to act as signaling molecules that bind to specific G protein-coupled receptors and regulate various cellular processes, including proliferation, survival, and migration.

Abnormal levels of lysophospholipids have been implicated in several diseases, such as cancer, inflammation, and neurological disorders. Therefore, understanding the biology of lysophospholipids has important implications for developing new therapeutic strategies.

Acyltransferases are a group of enzymes that catalyze the transfer of an acyl group (a functional group consisting of a carbon atom double-bonded to an oxygen atom and single-bonded to a hydrogen atom) from one molecule to another. This transfer involves the formation of an ester bond between the acyl group donor and the acyl group acceptor.

Acyltransferases play important roles in various biological processes, including the biosynthesis of lipids, fatty acids, and other metabolites. They are also involved in the detoxification of xenobiotics (foreign substances) by catalyzing the addition of an acyl group to these compounds, making them more water-soluble and easier to excrete from the body.

Examples of acyltransferases include serine palmitoyltransferase, which is involved in the biosynthesis of sphingolipids, and cholesteryl ester transfer protein (CETP), which facilitates the transfer of cholesteryl esters between lipoproteins.

Acyltransferases are classified based on the type of acyl group they transfer and the nature of the acyl group donor and acceptor molecules. They can be further categorized into subclasses based on their sequence similarities, three-dimensional structures, and evolutionary relationships.

Transcription factors are proteins that play a crucial role in regulating gene expression by controlling the transcription of DNA to messenger RNA (mRNA). They function by binding to specific DNA sequences, known as response elements, located in the promoter region or enhancer regions of target genes. This binding can either activate or repress the initiation of transcription, depending on the properties and interactions of the particular transcription factor. Transcription factors often act as part of a complex network of regulatory proteins that determine the precise spatiotemporal patterns of gene expression during development, differentiation, and homeostasis in an organism.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

Mitochondria are specialized structures located inside cells that convert the energy from food into ATP (adenosine triphosphate), which is the primary form of energy used by cells. They are often referred to as the "powerhouses" of the cell because they generate most of the cell's supply of chemical energy. Mitochondria are also involved in various other cellular processes, such as signaling, differentiation, and apoptosis (programmed cell death).

Mitochondria have their own DNA, known as mitochondrial DNA (mtDNA), which is inherited maternally. This means that mtDNA is passed down from the mother to her offspring through the egg cells. Mitochondrial dysfunction has been linked to a variety of diseases and conditions, including neurodegenerative disorders, diabetes, and aging.

The X chromosome is one of the two types of sex-determining chromosomes in humans (the other being the Y chromosome). It's one of the 23 pairs of chromosomes that make up a person's genetic material. Females typically have two copies of the X chromosome (XX), while males usually have one X and one Y chromosome (XY).

The X chromosome contains hundreds of genes that are responsible for the production of various proteins, many of which are essential for normal bodily functions. Some of the critical roles of the X chromosome include:

1. Sex Determination: The presence or absence of the Y chromosome determines whether an individual is male or female. If there is no Y chromosome, the individual will typically develop as a female.
2. Genetic Disorders: Since females have two copies of the X chromosome, they are less likely to be affected by X-linked genetic disorders than males. Males, having only one X chromosome, will express any recessive X-linked traits they inherit.
3. Dosage Compensation: To compensate for the difference in gene dosage between males and females, a process called X-inactivation occurs during female embryonic development. One of the two X chromosomes is randomly inactivated in each cell, resulting in a single functional copy per cell.

The X chromosome plays a crucial role in human genetics and development, contributing to various traits and characteristics, including sex determination and dosage compensation.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Proteins are complex, large molecules that play critical roles in the body's functions. They are made up of amino acids, which are organic compounds that are the building blocks of proteins. Proteins are required for the structure, function, and regulation of the body's tissues and organs. They are essential for the growth, repair, and maintenance of body tissues, and they play a crucial role in many biological processes, including metabolism, immune response, and cellular signaling. Proteins can be classified into different types based on their structure and function, such as enzymes, hormones, antibodies, and structural proteins. They are found in various foods, especially animal-derived products like meat, dairy, and eggs, as well as plant-based sources like beans, nuts, and grains.

Electronic mail, often abbreviated as email or e-mail, is a method of exchanging digital messages between people using computer networks. The term "electronic mail" is a direct comparison to traditional paper-based mail systems and has been in use since the creation of the first email system in 1971.

In medical terms, email is commonly used as a means of communication between healthcare professionals, patients, and other stakeholders in the healthcare industry. For example, physicians may use email to communicate with colleagues or staff members, while hospitals and clinics may use email to send appointment reminders or test results to patients.

Email messages can include text, images, videos, and attachments, making them a versatile tool for communication. However, it is important to note that email is not considered a secure means of transmitting sensitive medical information due to the risk of interception or unauthorized access. As such, healthcare professionals must follow established guidelines and regulations when using email to communicate protected health information (PHI) in order to maintain patient privacy and confidentiality.

I am not aware of a widely accepted medical definition for the term "software," as it is more commonly used in the context of computer science and technology. Software refers to programs, data, and instructions that are used by computers to perform various tasks. It does not have direct relevance to medical fields such as anatomy, physiology, or clinical practice. If you have any questions related to medicine or healthcare, I would be happy to try to help with those instead!

I'm sorry for any confusion, but "Internet" is a term that pertains to the global network of interconnected computers and servers that enable the transmission and reception of data via the internet protocol (IP). It is not a medical term and does not have a specific medical definition. If you have any questions related to medicine or health, I'd be happy to try to help answer them for you!

A User-Computer Interface (also known as Human-Computer Interaction) refers to the point at which a person (user) interacts with a computer system. This can include both hardware and software components, such as keyboards, mice, touchscreens, and graphical user interfaces (GUIs). The design of the user-computer interface is crucial in determining the usability and accessibility of a computer system for the user. A well-designed interface should be intuitive, efficient, and easy to use, minimizing the cognitive load on the user and allowing them to effectively accomplish their tasks.

... Foundation, 28 Jun 2011. "Diagnosis of Barth Syndrome". Available from: "Barth Syndrome Foundation : Home". ... "Barth syndrome: MedlinePlus Genetics". medlineplus.gov. Retrieved 2023-08-13. "Orphanet: Barth syndrome". orpha.net. Retrieved ... is closely associated with Barth syndrome. In 2008, Dr. Kulik found that every patient with Barth Syndrome that he tested had ... Early diagnosis of the syndrome is complicated, but of critical importance. Clinical presentation in Barth Syndrome is highly ...
is responsible for Barth syndrome". Nat. Genet. 12 (4): 385-389. doi:10.1038/ng0496-385. PMID 8630491. S2CID 23539265. This ... This family also includes tafazzin, the Barth syndrome gene. 1-acyl-sn-glycerol-3-phosphate acyltransferase InterPro: IPR004552 ... "Barth syndrome may be due to an acyltransferase deficiency". Curr. Biol. 7 (8): R465-6. doi:10.1016/S0960-9822(06)00237-5. PMID ...
Dysfunctional mitochondria likely lead to other signs and symptoms of Barth syndrome. Phenotypes of Barth Syndrome encompass a ... "Barth Syndrome Foundation : Home". www.barthsyndrome.org. Retrieved 2019-08-04. Cosson L, Toutain A, Simard G, Kulik W, Matyas ... Barth syndrome (BTHS) is an X-linked disease caused by mutations in the TAFAZZIN gene. More than 160 mutations in the TAFAZZIN ... Kim GB, Kwon BS, Bae EJ, Noh CI, Seong MW, Park SS (May 2013). "A novel mutation of the TAZ gene in Barth syndrome: acute ...
A typical example is Barth syndrome and the responsible gene, tafazzin. Developments in echocardiography, both the technology ... is responsible for Barth Syndrome" Nat Genet 12: 385-389. Rustico MA, Benettoni A, Bussani R, Maieron A, Mandruzzato G. (1995 ... It is an uncommon cause of unexplained heart failure in infants and children, and is one component of HEC syndrome. ...
Barth syndrome is a common name for 3-methylglutaconic aciduria type II. The main features of Barth syndrome include a weakened ... Costeff syndrome is another name for 3-methylglutaconic aciduria type III. This disorder is characterized mainly by the ... Costeff's syndrome (www.whonamedit.com) "3-METHYLGLUTACONIC ACIDURIA". Datagenno. Anikster Y (2020). Adam MP, Ardinger HH, ... eds.). "Costeff Syndrome". GeneReviews® [Internet]. University of Washington. PMID 20301646. NBK1473. 3-Methylglutaconic ...
Barth syndrome is a rare genetic disorder that was recognised in the 1970s to cause infantile death. It has a mutation in the ... Unlike Barth syndrome, Tangier disease is mainly caused by abnormal enhanced production of CL. Studies show that there are ... Gonzalvez F. (2013). "Barth syndrome: Cellular compensation of mitochondrial dysfunction and apoptosis inhibition due to ... Chronic fatigue syndrome is debilitating illness of unknown cause that often follows an acute viral infection. According to one ...
Isolated ATP synthase deficiency Barth syndrome TMEM70 deficiency Surgery for cataracts may be needed. Medical treatment for ... "Orphanet: Sengers syndrome". orpha.net. Retrieved 2023-08-18. "Entry #212350 - SENGERS SYNDROME - OMIM". omim.org. Retrieved ... Sengers syndrome is a rare disorder. About 40 cases have been reported worldwide. This condition was first described in 1975. " ... "Sengers Syndrome , Hereditary Ocular Diseases". Wu, Chen-Han Wilfred; Caha, Martin; Smoot, Leslie; Harris, David J.; Roberts, ...
May 2007). "Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes". American ...
Androgen insensitivity syndrome; variable degrees of undervirilization and/or infertility in XY persons of either sex Barth ... Alport syndrome; glomerulonephritis, endstage kidney disease, and hearing loss. A minority of Alport syndrome cases are due to ... Hunter syndrome; potentially causing hearing loss, thickening of the heart valves leading to a decline in cardiac function, ... Lesch-Nyhan syndrome; neurologic dysfunction, cognitive and behavioral disturbances including self-mutilation, and uric acid ...
... the first syndrome with MLIS was reported, now known as Norman-Roberts syndrome (MLIS type A). The Barth type (MLIS type B) was ... The Barth-type of MLIS is the most severe of all the known lissencephaly syndromes.[citation needed] This phenotype consists of ... Microlissencephaly Type B or Barth microlissencephaly syndrome: is a microlissencephaly with thick cortex, severe cerebellar ... while Dobyns-Barkovich type 8 corresponds to Barth microlissencephaly syndrome (MLIS2). Microlissencephaly is considered a more ...
... such as coenzyme Q10 deficiency and Barth syndrome. Environmental influences may interact with hereditary predispositions and ... Diseases such as Kearns-Sayre syndrome, Pearson syndrome, and progressive external ophthalmoplegia are thought to be due to ... Diseases caused by mutation in the mtDNA include Kearns-Sayre syndrome, MELAS syndrome and Leber's hereditary optic neuropathy ... MERRF syndrome, and others are due to point mutations in mtDNA. It has also been reported that drug tolerant cancer cells have ...
... deficiency Barth syndrome Copper deficiency Vitamin B12 deficiency Pearson syndrome Some types of Hermansky-Pudlak syndrome ... bone marrow failure syndromes, cartilage-hair hypoplasia, reticular dysgenesis, and Barth syndrome. Viruses that infect ... Felty syndrome Systemic lupus erythematosus HIV/AIDS infection Glycogen storage disease Cohen syndrome Congenital immune ... Bone marrow biopsies can also be used to monitor the development of myelodysplastic syndrome (MDS) or acute myeloid leukemia ( ...
Barth syndrome Emery-Dreifuss muscular dystrophy Myotubular myopathy Pignatelli RH, McMahon CJ, Dreyer WJ, Denfield SW, Price J ... There is recent information in which NCC has been seen in combination with 1q21.1 deletion Syndrome. Furthermore, mutations in ... and metabolic myopathy Genetic related Emery-Dreifuss muscular dystrophy Myotubular cardiomyopathy Barth syndrome The American ...
... causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition". Journal of Medical Genetics. 43 (5): 385-93. ... causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition". Journal of Medical Genetics. 43 (5): 385-93. ... causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition". Journal of Medical Genetics. 43 (5): 385-93. ... "Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial ...
"PEHO syndrome". Vanhatalo S, Somer M, Barth PG (April 2002). "Dutch patients with progressive encephalopathy with edema, ... There is no specific treatment for PEHO syndrome; only the symptoms associated with the syndrome can be managed. PEHO syndrome ... There has been other pathogenic variants in other genes known to be associated with the syndrome. There is no cure for PEHO ... PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia and optic atrophy) is an autosomal recessive and dominant ...
... Classic, a golf tournament on the LPGA Tour from 1974 to 1980 Barth syndrome, a metabolic disorder Barthes ( ... Barth may refer to: Barth, Germany, a town in Mecklenburg-Western Pomerania, Germany Barth (Amt), administrative subdivision ... Barth Island, Nunavut, Canada Barth (name), a surname (and list of people with that name) Barth Bagge, a character from the ... disambiguation) Barthe (disambiguation) This disambiguation page lists articles associated with the title Barth. If an internal ...
Hennekam, R. C.; Barth, P. G.; Van Lookeren Campagne, W.; De Visser, M.; Dingemans, K. P. (July 1991). "A family with severe X- ... In some instances in the history of the family in which the syndrome was first described, the syndrome was present at birth. ... "Wieacker Syndrome - NORD (National Organization for Rare Disorders)". "OMIM Entry # 314580 - WIEACKER-WOLFF SYNDROME; WRWF". ... Wieacker syndrome is caused by a mutation in ZC4H2 on the X chromosome (Xq13-q21). There are five affected families, each with ...
Lee, Andrew; Mirrett, Stanley; Reller, L. Barth; Weinstein, Melvin P. (November 2007). "Detection of bloodstream infections in ... nephritic syndrome was the second most common clinical syndrome at 21.9% (nephrotic syndrome was 52.3%) "acute nephritic ... This syndrome has numerous underlying causes that can also cause nephritic syndrome, so this may be more of an association than ... Nephritic syndrome, like nephrotic syndrome, may involve low level of albumin in the blood due to the protein albumin moving ...
Mackerer, Carl R.; Barth, Mary L.; Krueger, Andrew J.; Chawla, Birbal; Roy, Timothy A. (1999). "Comparison of neurotoxic ... A syndrome is a symptom complex, consistent and common to a given condition. Individuals with 'aerotoxic syndrome' describe a ... All concluded there is insufficient consistency to establish a medical syndrome, and the 'aerotoxic syndrome' is not recognised ... Aerotoxic syndrome relates to ill-health effects associated with breathing contaminated air in an airliner cabin. Researchers ...
Barth, Shannon K.; Dursa, Erin K.; Bossarte, Robert M.; Schneiderman, Aaron I. (October 2017). "Trends in brain cancer ... Gulf War syndrome, Syndromes, Syndromes of unknown causes, Immune system disorders, Neurological disorders, Military personnel ... The Gulf War syndrome (GWS) is a chronic and multi-symptomatic disorder affecting military veterans of both sides of the Gulf ... "Gulf War Syndrome". University of Virginia. Archived from the original on 14 July 2004. Stencel, C (9 April 2010). "Gulf War ...
Barth, Magalie (2014-10-01). "Early-onset Behr syndrome due to compound heterozygous mutations in OPA1". Brain. 137 (Pt 10): ... Rare syndromes, Syndromes affecting the nervous system, Genetic disorders with OMIM but no gene, Syndromes affecting the eye). ... Behr syndrome at NIH's Office of Rare Diseases Behr Syndrome at Omim.com (Articles with short description, Short description ... Behr syndrome is autosomal recessive which means the defective gene is located on an autosome, and two copies of the gene - one ...
Barth JT, Ruff R, Espe-Pfeifer P (2006). "Mild traumatic brain injury: Definitions". In Nicholson, Keith, Young, Gerald, Andrew ... Though no universally accepted definition of postconcussive syndrome exists, most of the literature defines the syndrome as the ... but may be better accounted for with a diagnosis of dysexecutive syndrome. In a syndrome, a set of symptoms is consistently ... Post-concussion syndrome (PCS), also known as persisting symptoms after concussion, is a set of symptoms that may continue for ...
... syndrome Bardet-Biedl syndrome Barth syndrome Basal-cell nevus syndrome Beckwith-Wiedemann syndrome Benjamin syndrome Bladder ... syndrome Jacobsen syndrome Katz syndrome Klinefelter syndrome Kabuki syndrome Kyphosis Larsen syndrome Laurence-Moon syndrome ... syndrome Proteus syndrome Prune belly syndrome Radial aplasia Rett syndrome Robinow syndrome Rubinstein-Taybi syndrome Saethre- ... Triple-X syndrome Trisomy 13 Trisomy 9 Turner syndrome Umbilical hernia Usher syndrome Waardenburg syndrome Werner syndrome ...
... may refer to: Barth syndrome Bartram Trail High School Biotechnology High School Brooklyn Technical High School Burlington ...
... syndrome 2 Bare lymphocyte syndrome Baritosis Barnicoat-Baraitser syndrome Barrett syndrome Barrow-Fitzsimmons syndrome Barth ... syndrome Bazopoulou-Kyrkanidou syndrome B-cell lymphomas Bd syndrome Beals syndrome Beardwell syndrome Bébé-Collodion syndrome ... Becker's nevus Beemer-Ertbruggen syndrome Beemer-Langer syndrome Behcet syndrome Behr syndrome Behrens-Baumann-Dust syndrome ... sclerosis Bamforth syndrome BANF acoustic neurinoma Bangstad syndrome Banki syndrome Bannayan-Zonana syndrome Banti's syndrome ...
Goutières F, Aicardi J, Barth PG, Lebon P (1999). "Aicardi-Goutières syndrome: an update and results of interferon-alpha ... GeneReviews/NCBI/NIH/UW entry on Aicardi-Goutières Syndrome OMIM entries on Aicardi-Goutieres syndrome v t e (Articles with ... 2000). "Aicardi-Goutières Syndrome Displays Genetic Heterogeneity with One Locus (AGS1) on Chromosome 3p21". Am. J. Hum. Genet ... In humans, a defect in this process can give rise to Aicardi-Goutieres syndrome involving microcephaly and neuroinflammation. ...
... syndrome Barlow's syndrome Barraquer-Simons syndrome Bart syndrome Barth Syndrome Bartter syndrome Bart-Pumphrey syndrome ... syndrome Wende-Bauckus syndrome Werner syndrome Wernicke-Korsakoff syndrome West syndrome Westerhof syndrome Wet lung syndrome ... syndrome Shone's syndrome Short anagen syndrome Short bowel syndrome short limb syndrome Short man syndrome Short QT syndrome ... syndrome Radial tunnel syndrome Rage syndrome Raghib syndrome Raine syndrome Ramos-Arroyo syndrome Ramsay Hunt syndrome type 1 ...
... syndrome". Neuropediatrics. 33 (2): 100-4. doi:10.1055/s-2002-32371. PMID 12075493. "EEG in Common Epilepsy Syndromes: ... Vanhatalo S, Somer M, Barth PG (April 2002). "Dutch patients with progressive encephalopathy with edema, hypsarrhythmia, and ... especially in those with West syndrome that changes to Lennox-Gastaut syndrome. Asymmetric hypsarrhythmia. Associated with a ... The "H" in PEHO syndrome stands for hypsarrhythmia. Together with developmental regression and infantile spasms, hypsarrhythmia ...
Aalfs CM, van den Berg H, Barth PG, Hennekam RC (1995). "The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate ... 2000). "Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome". J. Pediatr. 136 (3): 390-3. doi:10.1067/mpd. ... Mutations in DKC1 are associated to Hoyeraal-Hreidarsson syndrome. GRCh38: Ensembl release 89: ENSG00000130826 - Ensembl, May ... 2000). "Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to ...
... and Barth JT; Donna K. Broshek (2007). "Neuropsychological evaluation in the diagnosis and management of sports-related ... Post-concussion syndrome Cifu D, Drake D (August 17, 2006). "Repetitive head injury syndrome". eMedicine.com. Retrieved 2007-12 ... Second-impact syndrome shares all the risk factors of a concussion; that is, those who are at increased risk for a concussion ... Second-impact syndrome (SIS) occurs when the brain swells rapidly, and catastrophically, after a person has a second concussion ...
Barth Syndrome Foundation, 28 Jun 2011. "Diagnosis of Barth Syndrome". Available from: "Barth Syndrome Foundation : Home". ... "Barth syndrome: MedlinePlus Genetics". medlineplus.gov. Retrieved 2023-08-13. "Orphanet: Barth syndrome". orpha.net. Retrieved ... is closely associated with Barth syndrome. In 2008, Dr. Kulik found that every patient with Barth Syndrome that he tested had ... Early diagnosis of the syndrome is complicated, but of critical importance. Clinical presentation in Barth Syndrome is highly ...
Barth syndrome is a rare condition characterized by an enlarged and weakened heart (dilated cardiomyopathy), weakness in ... Barth syndrome occurs almost exclusively in males.. In males with Barth syndrome, dilated cardiomyopathy is often present at ... medlineplus.gov/genetics/condition/barth-syndrome/ Barth syndrome. ... Barth syndrome. Am J Med Genet C Semin Med Genet. 2013 Aug;163C(3):198-205. doi: 10.1002/ajmg.c.31372. Epub 2013 Jul 10. ...
The Barth Syndrome Foundation mission is to save lives through education, advances in treatment, and finding a cure for Barth ... Barth Syndrome is a series X-linked genetic disorder, primarily affecting males. It is caused by a mutation in the tafazzin ...
Barth Syndrome Foundation does not endorse any drugs, tests, or treatments that we may report. ... The Role of MLCL:CL as a diagnostic assay for Barth syndrome ... Barth Syndrome * What is Barth Syndrome? * Approaches to ... The Role of MLCL:CL as a diagnostic assay for Barth syndrome ... Barth Syndrome * What is Barth Syndrome? * Approaches to ... The Role of MLCL:CL as a diagnostic assay for Barth syndrome ... Cardiac Aspects of Barth Syndrome. *Clinical Research and Barth ...
... (BTHS) is a rare, genetic disorder of lipid metabolism that primarily affects males. It is ... Barth Syndrome Foundation, Inc.. Supports families and individuals affected by Barth syndrome through education, awareness, and ... The dietary supplement carnitine has aided some children with Barth syndrome but in others it has caused increasing muscle ... Early and accurate diagnosis is key to prolonged survival for boys born with Barth syndrome. Severe infections and cardiac ...
Barth Syndrome Champion Meets with Rep. Paul Tonko for Barth Syndrome Awareness Day ... for elamipretide as a treatment for those living with Barth syndrome.. While the decision is a setback for the Barth syndrome ... parent of two sons with Barth syndrome, Erik and Derek, met with Rep. Paul Tonko [D-NY-20] to discuss his support of the Barth ... Members of the Barth syndrome community:. August 2021 saw the achievement of a shared milestone - the first submission of a new ...
Barth Syndrome Foundation does not endorse any drugs, tests, or treatments that we may report. ... We are a world leading source of support for research into the fundamental understanding of Barth syndrome (BTHS), diagnosis ... Largest active registry of Barth syndrome individuals, providing clinical data and access to participants for clinical trials ... National Institutes of Health and other agencies research initiatives relevant to Barth syndrome ...
Barth syndrome) to Xq28.. Bolhuis PA, Hensels GW, Hulsebos TJ, Baas F, Barth PG. Am J Hum Genet 1991(3): 481-5 [PubMed abstract ... A novel intronic mutation of the TAZ ( G4.5) gene in a patient with Barth syndrome: creation of a 5 splice donor site with ... Multiple transmissions of Barth syndrome through an oocyte donor with a de novo TAZ mutation.. Kirwin SM, Vinette KM, Schwartz ... Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis.. Kuijpers TW, Maianski NA, Tool AT, ...
... causes and a cure for Barth syndrome (BTHS). ... BARTH SYNDROME. *Barth Syndrome Overview. *Diagnostic Criteria ... who is a Barth syndrome carrier, Jennifer, Jordan, who was affected with Barth syndrome and died at age three from ... causes and a cure for Barth syndrome (BTHS). While independent, we are an affiliate of the Barth Syndrome Foundation, Inc. (BSF ... She lives in Markham, Ontario and has a son affected by Barth Syndrome as well as an unaffected son. There have been four Barth ...
Barth syndrome = E78.71 (with dot). Code Type: Diagnosis. Description: Barth syndrome. Orphanet Classification of Rare Heart ... Barth Syndrome: Orpha111. For information mapping ICD-9 to ICD-10 E7871/E78.71 (Barth Syndrome) or ICD-9 General Equivalence ... To Find the Barth syndrome ICD-10 Diagnostic Code:. Endocrine, nutritional and metabolic diseases (E00 - E89). Metabolic ... The Barth Syndrome Foundation of Canada is a completely volunteer, charitable foundation. We fund critical research and provide ...
Barth syndrome, an X-linked mitochondrial cardioskeletal myopathy, was diagnosed by genetic testing at autopsy. Barth syndrome ... Barth syndrome, an X-linked mitochondrial cardioskeletal myopathy, was diagnosed by genetic testing at autopsy. Barth syndrome ... Barth syndrome, an X-linked mitochondrial cardioskeletal myopathy, was diagnosed by genetic testing at autopsy. Barth syndrome ... Barth syndrome, an X-linked mitochondrial cardioskeletal myopathy, was diagnosed by genetic testing at autopsy. Barth syndrome ...
Barth syndrome, first identified in 1983, is caused by a mutation in the X-linked tafazzin gene, which is crucial for energy ... When Cardiomyopathy Is a Harbinger of Barth Syndrome. March 1, 2013 Pediatric Heart News. March 1, 2013 ... "We had him tested again for Barth syndrome at 18 months, and the result was positive. We were devastated, but it was also ... You wouldnt think that he has Barth syndrome-a life-threatening genetic disease that often presents during infancy as dilated ...
Barth Syndrome Foundation of Canada is customized with either the Barth Love or Barth Hope logo on both sides of the mug. ... Barth Syndrome Foundation of Canada This Ceramic 300 ml Latte Mug ~ ... Express your Barth Love with the Ceramic 300 ml Latte Mug ~ ... Barth Syndrome Foundation of Canada Store. Lake Cowichan LAKERS ... BARTH Syndrome Foundation of Canada ~ Ceramic 300 ml Latte Mug. BARTH Syndrome Foundation of Canada ~ Ceramic 300 ml Latte Mug ...
Barth syndrome occurs almost exclusively in males and is estimated to affect one in 200,000 to 400,000 individuals worldwide. ... Barth syndrome is an ultra-rare genetic condition characterized by cardiac abnormalities often leading to heart failure and ... "We submitted our NDA at the request of the Barth syndrome patient community, which petitioned us and the FDA to gain access to ... "We deeply value our relationship with the Barth syndrome patient community, and hope to find a way to progress elamipretide as ...
Barth syndrome is a rare and incurable X-linked (male-specific) genetic disease that affects the protein tafazzin (Taz). Taz is ... N2 - Barth syndrome is a rare and incurable X-linked (male-specific) genetic disease that affects the protein tafazzin (Taz). ... AB - Barth syndrome is a rare and incurable X-linked (male-specific) genetic disease that affects the protein tafazzin (Taz). ... abstract = "Barth syndrome is a rare and incurable X-linked (male-specific) genetic disease that affects the protein tafazzin ( ...
... self-regulation and coping strategies and inter-personal responses in individuals and families affected by Barth syndrome. A ... Barth syndrome (BS) is a life-threatening genetic disease caused by abnormal lipids in the mitochondria of cells and mostly ... As a consequence, Barth Syndrome UK (the UK-based Barth Syndrome charity) has instigated an annual family weekend (where ... Barth Syndrome Service. The presentation of Barth syndrome (MIM 302060) typically includes skeletal muscle weakness, ...
Isolated left ventricular noncompaction syndrome. Am J Cardiol. 2009 Oct 15. 104(8):1135-8. [QxMD MEDLINE Link]. ... 2. Glycogen storage disease, Bath and Sengers syndromes, pyruvate dehydrogenase deficiency, mitochondrial enzyme deficiency ... Duchenne or Becker muscular dystrophies, Friedreich ataxia, Kearns-Sayre syndrome, other muscular dystrophies ... XL cardio-skeletal (Barth syndrome). Xq28 (gene G4.5). Tafazzin. Table 3. Diagnosis of Dilated Cardiomyopathy in Children - ...
Barth Syndrome Foundation *Beyond Celiac. *Caregiver Action Network. *. Celiac Disease Foundation *. COPD Foundation ...
Barth syndrome is an X-linked recessive disorder presenting with cardiomyopathy in infancy, skeletal myopathy, recurrent ... Felty syndrome is a syndrome of rheumatoid arthritis, splenomegaly, and neutropenia. Splenectomy produces an initial response, ... Most cases of Shwachman-Diamond syndrome are caused by mutations in the SBDS gene. [30] The precise function of this gene is ... Shwachman-Diamond syndrome and X-linked dyskeratosis congenita (DC), cartilage-hair hypoplasia (CHH), and Diamond-Blackfan ...
carrier of a Barth syndrome allele (C;C) 0 common in clinvar ...
Barth Syndrome: TAZ* , MetaboSeq , Test Requisition. *Carnitine Palmitoyltransferase deficiency: CPT1A* , CPT2 , MetaboSeq , ... Pendred Syndrome: SLC26A4 , FOXI1* , KCNJ10* , Pendred Panel , OtoSeq , Test Requisition *SeSAME Syndrome: KCNJ10* , Pendred ... Chediak-Higashi Syndrome: HLH Panel by NGS , Test Requisition. *Hermansky-Pudlak syndrome type 2 and 9: HLH Panel by NGS , Test ... DiGeorge syndrome (TBX1): SCID and T Cell Disorders Panel , Test Requisition. *DNA ligase IV deficiency/LIG4 syndrome: SCID and ...
10] Id.; Barth WF, Segal K., "Reactive arthritis (Reiters syndrome)." American Family Physician. 60(2):499-503, 507 (1999). ... 1;33(7): 1010-4; Barth, W. and Segal, K., "Reactive Arthritis (Reiters Syndrome)," American Family Physician, Aug. 1999, ... This triad of symptoms is called Reiters Syndrome.[3] Reiters syndrome, a form of reactive arthritis, is an uncommon but ... Irritable bowel syndrome (IBS) is a chronic disorder characterized by alternating bouts of constipation and diarrhea, both of ...
Study Finds Potential New Target, Drug Candidate to Treat Patients with Barth Syndrome ... Study Finds Potential New Target, Drug Candidate to Treat Patients with Barth Syndrome ... Aspirin in combination with clopidogrel is reasonable for up to a year after an acute coronary syndrome.3 ... 21 years because of the risk of Reye syndrome.3 ...
Pharmanovia & Stealth BioTherapeutics enter licensing agreement for novel Barth syndrome treatment. Pharmanovia and Stealth ... into a new licensing agreement for the marketing and further development of elamipretide as a treatment for Barth syndrome in ... US-based Nemours Childrens Health selected to conduct first gene therapy for Morquio A syndrome ... to conduct a first-of-its-kind gene therapy clinical trial for Morquio A syndrome. ...
May 31, 2023 Sales and Marketing Barth syndrome, Cardiology, Pharmanovia, Stealth BioTherapeutics, licensing agreement ... Pharmanovia and Stealth BioTherapeutics enter new licensing agreement for novel Barth syndrome treatment. ...
Barth Syndrome - When the Lack of Fair, Equitable and Appropriate Regulatory Review Process Jeopardizes Ultra-Rare Drug ... Energy in Action Podcast Episode 94: Barth Syndrome - When the Lack of Fair, Equitable and Appropriate Regulatory Review ... Development Barth Syndrome Foundation Executive Director Emily Milligan, and Director of Family Services […] ...
What type of mutation causes barth syndrome?. 1 doctor answer • 1 doctor weighed in ... Which type of chromosomal mutation causes down syndrome?. 2 doctor answers • 3 doctors weighed in ...
Development of Enzyme Replacement Therapy in Mammalian Models of Barth Syndrome Ana Dinca, 2018. University of Washington, # ... A Meier-Gorlin syndrome mutation in ORC4 leads to locus specific chromosome breakage and a ribosome deficiency in Saccharomyces ...
  • Barth syndrome (BTHS) is a rare but serious X-linked genetic disorder, caused by changes in phospholipid structure and metabolism. (wikipedia.org)
  • Barth syndrome (BTHS) is a rare, genetic disorder of lipid metabolism that primarily affects males. (brainfacts.org)
  • We are a world leading source of support for research into the fundamental understanding of Barth syndrome (BTHS), diagnosis and treatments. (barthsyndrome.org)
  • Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis. (lu.se)
  • We are a nation-wide, entirely volunteer-based, charitable organization (registered charity number 86102 2002 RR0001) that works to find treatments, causes and a cure for Barth syndrome (BTHS). (barthsyndrome.ca)
  • The Barth Syndrome (BTHS) is caused by the loss of the mitochondrial acyltransferase tafazzin, which is involved in the remodeling process of the hallmark mitochondrial glycerophospholipid cardiolipin. (uni-goettingen.de)
  • Neutropenia, a granulocyte disorder that results in a low production of neutrophils, the body's primary defenders against bacterial infections, is another severe manifestation of Barth Syndrome. (wikipedia.org)
  • in Barth Syndrome patients, however, there are reports of relatively fewer bacterial infections as compared to non-Barth patients with neutropenia. (wikipedia.org)
  • Diagnosis is established based upon several tests, among which can be blood tests (neutropenia, white blood cell count), urinalysis (increased urinary organic acid levels), echocardiography (cardiac ultrasound, to assess (and detect abnormalities in) the heart's structure, function and condition), and, with reasonable suspicion of Barth Syndrome, DNA sequencing (to verify TAZ gene status). (wikipedia.org)
  • Most males with Barth syndrome have neutropenia. (medlineplus.gov)
  • Barth syndrome presents in infancy or childhood with cardiomyopathy, hypotonia, growth delays, and cyclic neutropenia. (uky.edu)
  • The purpose of this case report is to encourage physicians to include Barth syndrome in the differential for cardiomyopathy of uncertain etiology in males, especially in the presence of growth delays, hypotonia, neutropenia, and/or family history of pediatric male death of unknown etiology. (uky.edu)
  • In addition to cardiomyopathy, the syndrome causes neutropenia, muscle weakness, and growth delay that is not responsive to growth hormone. (hopkinsmedicine.org)
  • Raro trastorno congénito del metabolismo de los lípidos ligado al cromosoma X. El síndrome de Barth se transmite con un patrón recesivo ligado a X. El síndrome se caracteriza por debilidad muscular, retraso del crecimiento, MIOCARDIOPATÍA DILATADA, NEUTROPENIA variable, aciduria 3 metilglutacónica (tipo II) y disminución de las concentraciones de CARDIOLIPINA mitocondriales. (bvsalud.org)
  • The syndrome is characterized by muscular weakness, growth retardation, DILATED CARDIOMYOPATHY, variable NEUTROPENIA, 3-methylglutaconic aciduria (type II) and decreases in mitochondrial CARDIOLIPIN level. (bvsalud.org)
  • Barth Syndrome patients develop cardiomyopathy, muscular hypotonia and cyclic neutropenia during childhood, rarely surviving to middle age. (bvsalud.org)
  • Cardiomyopathy is one of the more severe manifestations of Barth Syndrome. (wikipedia.org)
  • While cardiomyopathy can be life-threatening, it is commonly resolved or substantially improved in Barth Syndrome patients after puberty. (wikipedia.org)
  • Clinical presentation in Barth Syndrome is highly variable, with the only common denominator being early-onset and pronounced cardiomyopathy. (wikipedia.org)
  • In males with Barth syndrome, dilated cardiomyopathy is often present at birth or develops within the first months of life. (medlineplus.gov)
  • Individuals with Barth syndrome may have elastic fibers in place of muscle fibers in some areas of the heart muscle, which contributes to the cardiomyopathy. (medlineplus.gov)
  • You wouldn't think that he has Barth syndrome-a life-threatening genetic disease that often presents during infancy as dilated cardiomyopathy. (hopkinsmedicine.org)
  • For information mapping ICD-9 to ICD-10 E7871/E78.71 (Barth Syndrome) or ICD-9 General Equivalence Mapping, please see BSF . (barthsyndrome.ca)
  • Boston, June 15, 2022 - Stealth BioTherapeutics (Stealth) announced yesterday that the U.S. Food and Drug Administration (FDA) has granted the company a meeting to discuss a possible new drug application (NDA) for elamipretide as a potential treatment for Barth syndrome. (barthsyndrome.org)
  • BSF to Stealth BioTherapeutics: 'We urge you to remain committed in Stealth's pursuit of an NDA for elamipretide in Barth syndrome. (barthsyndrome.org)
  • We were honored to participate in the EveryLife Foundation's prestigious 13th Annual Rare Disease Scientific Workshop on October 21, 2021-- the same day that we learned that the FDA had refused to review Stealth BioTherapeutics' New Drug Application (NDA) for elamipretide in Barth syndrome. (barthsyndrome.org)
  • The Barth Syndrome Foundation (BSF) is deeply disappointed by the US Food and Drug Administration's (FDA) refusal to file Stealth BioTherapeutics' (Stealth) submission of a New Drug Application (NDA) for elamipretide as a treatment for those living with Barth syndrome. (barthsyndrome.org)
  • Stealth BioTherapeutics said it received a Refusal to File letter from the U.S. Food and Drug Administration regarding Stealth's new drug application for elamipretide, a mitochondria-targeted therapy for the treatment of Barth syndrome. (globalgenes.org)
  • August 2021 saw the achievement of a shared milestone - the first submission of a new drug application for elamipretide by our team at Stealth, representing the first new drug application for any investigational product for Barth syndrome. (barthsyndrome.org)
  • We submitted our NDA at the request of the Barth syndrome patient community, which petitioned us and the FDA to gain access to elamipretide and shared with the FDA its tolerance of risk of uncertainty of benefit based on the data from the small clinical trials we were able to conduct in this ultra-rare disease," said CEO Reenie McCarthy. (globalgenes.org)
  • We deeply value our relationship with the Barth syndrome patient community, and hope to find a way to progress elamipretide as a treatment for Barth syndrome. (globalgenes.org)
  • Elamipretide was previously granted Rare Pediatric Disease, Fast Track, and Orphan Drug designations by the FDA, and Orphan Drug designation by the European Medicines Agency (EMA), for the treatment of Barth syndrome. (globalgenes.org)
  • Barth syndrome is one of a group of metabolic disorders that can be diagnosed by the presence of increased levels of 3-methylglutaconic acid in urine (3-methylglutaconic aciduria). (medlineplus.gov)
  • The NINDS supports research on genetic disorders such as Barth syndrome, including basic research on mitochondrial dysfunction and investigations of other inborn errors of metabolism. (brainfacts.org)
  • Patients with fibromyalgia syndrome (FMS) and related disorders disproportionately ingested over-the-counter L-tryptophan-containing products, but it is unknown if these individuals were predisposed to EMS. (medscape.com)
  • Early diagnosis of the syndrome is complicated, but of critical importance. (wikipedia.org)
  • Early and accurate diagnosis is key to prolonged survival for boys born with Barth syndrome. (brainfacts.org)
  • Any type of mutation of TAZ (missense, nonsense, deletion, frameshift, and/or splicing) is closely associated with Barth syndrome. (wikipedia.org)
  • Ideally, any male who is matrilineally related to an individual with Barth Syndrome should be tested for TAZ mutation(s). (wikipedia.org)
  • Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction. (lu.se)
  • Multiple transmissions of Barth syndrome through an oocyte donor with a de novo TAZ mutation. (lu.se)
  • A novel mutation in the G4.5 (TAZ) gene in a kindred with Barth syndrome. (lu.se)
  • Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome. (lu.se)
  • A novel intronic mutation of the TAZ ( G4.5) gene in a patient with Barth syndrome: creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon. (lu.se)
  • Mutation characterization and genotype-phenotype correlation in Barth syndrome. (lu.se)
  • Barth syndrome, first identified in 1983, is caused by a mutation in the X-linked tafazzin gene, which is crucial for energy production in the mitochondria. (hopkinsmedicine.org)
  • Which type of chromosomal mutation causes down syndrome? (healthtap.com)
  • What type of mutation causes barth syndrome? (healthtap.com)
  • The c.453delC (p.Thr152Profs*14) frameshift mutation in KCNH2 is associated with an elevated risk of Long QT syndrome (LQTS) and fatal arrhythmia. (qxmd.com)
  • Thus, it is vitally important to take familial histories of Barth Syndrome patients to determine genetic risk. (wikipedia.org)
  • Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. (lu.se)
  • We continuously meet with medical personnel to inform them about Barth syndrome, diagnostic alternatives, and treatments, ensuring that their patients get the care that is unique to Barth syndrome. (barthsyndrome.ca)
  • Thompson is one of the physicians on the team who care for patients from around the country at a multidisciplinary Barth syndrome clinic-the only one in North America. (hopkinsmedicine.org)
  • It's been hard to learn more about this syndrome," Thompson says, "because there are so few patients. (hopkinsmedicine.org)
  • Kelley, a pediatrician and metabolic specialist, has been studying and caring for patients with Barth syndrome for more than 25 years. (hopkinsmedicine.org)
  • There are currently no U.S. Food and Drug Administration or European Medicines Agency-approved therapies for patients with Barth syndrome. (globalgenes.org)
  • At present, there are twenty-seven patients with the disease treated in the U.K. Barth Syndrome Service. (biomedcentral.com)
  • Malignant carcinoid syndrome occurs in fewer than 10% of patients with a carcinoid tumor. (medscape.com)
  • A review of toxic oil syndrome (TOS) cases that affected many thousands of Spanish patients in the early 1980s and were associated with adulterated rapeseed oil reveals that TOS shares many clinical and histopathological features with EMS. (medscape.com)
  • In one study, peripheral blood mononuclear cells (PBMC) from 6 of 7 patients with EMS and other functional somatic syndromes, when incubated with peak E, produced type II (profibrotic) cytokines (compared with 3 of 24 controls). (medscape.com)
  • Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. (lu.se)
  • Barth syndrome (BS) is a life-threatening genetic disease caused by abnormal lipids in the mitochondria of cells and mostly affects young males. (biomedcentral.com)
  • Mutations in the TAFAZZIN gene cause Barth syndrome. (medlineplus.gov)
  • Barth syndrome is a rare and incurable X-linked (male-specific) genetic disease that affects the protein tafazzin (Taz). (johnshopkins.edu)
  • Barth Syndrome, a rare X-linked disorder affecting 1:300,000 live births, results from defects in Tafazzin, an acyltransferase that remodels cardiolipin and is essential for mitochondrial respiration. (bvsalud.org)
  • Lynda shared her experience as a mother of two individuals with Barth syndrome, the impacts of the genetic disease, and. (barthsyndrome.org)
  • Stealth and the FDA have previously discussed the challenges of conducting additional clinical trials in Barth syndrome, which is an ultra-rare genetic disease affecting fewer than 130 individuals in the United States. (globalgenes.org)
  • At the 2018 Barth Syndrome International Scientific, Medical and Family Conference, Jasmine was a presenter at the Patient Focused Drug Development meeting. (barthsyndrome.ca)
  • In Barth syndrome, skeletal myopathy, particularly of the muscles closest to the center of the body (proximal muscles), is usually noticeable from birth and causes low muscle tone (hypotonia). (medlineplus.gov)
  • Barth syndrome, an X-linked mitochondrial cardioskeletal myopathy, was diagnosed by genetic testing at autopsy. (uky.edu)
  • The syndrome is diagnosed almost exclusively in males. (wikipedia.org)
  • Barth syndrome occurs almost exclusively in males. (medlineplus.gov)
  • Barth syndrome occurs almost exclusively in males and is estimated to affect one in 200,000 to 400,000 individuals worldwide. (globalgenes.org)
  • citation needed] Any of their children might inherit the modified gene with a 50% probability, with the males developing Barth Syndrome and the females going on to be carriers themselves. (wikipedia.org)
  • Males with Barth syndrome often have distinctive facial features including prominent cheeks. (medlineplus.gov)
  • Males with Barth syndrome have increased levels of a substance called 3-methylglutaconic acid in their blood and urine. (medlineplus.gov)
  • Males with Barth syndrome have a reduced life expectancy. (medlineplus.gov)
  • Barth Syndrome is a series X-linked genetic disorder, primarily affecting males. (nationalhealthcouncil.org)
  • The Barth Syndrome Foundation (BSF), including BSF representatives as well as key clinical disease leaders, held an important workshop with Dr. Norman Stockbridge (Director of the Division of Cardiology and Nephrology in CDER at the FDA) and over 30 other representatives of different FDA centers, offices, and divisions on July 29, 2022. (barthsyndrome.org)
  • The purpose of this study was to examine the influence of supplemental dietary linoleic acid on skeletal muscle function in a rodent model of Barth syndrome, the inducible Taz knockdown (TazKD) mouse. (johnshopkins.edu)
  • We stand by our commitment to the Barth syndrome community to deliver the first potential treatment option for this ultra-rare and life-threatening cardio-skeletal disease," said McCarthy. (stealthbt.com)
  • The disorder was termed eosinophilia-myalgia syndrome (EMS). (medscape.com)
  • The 1996 discovery of the Barth gene is helping scientists and physicians better understand the metabolic and biochemical abnormalities seen in the disease and learn how genes cause heart disease, muscle weakness, and other problems in the body. (brainfacts.org)
  • Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review. (lu.se)
  • Barth syndrome presenting with acute metabolic decompensation in the neonatal period. (lu.se)
  • Barth syndrome is an ultra-rare genetic condition characterized by cardiac abnormalities often leading to heart failure and reduced life expectancy, recurrent infections, muscle weakness and delayed growth. (globalgenes.org)
  • [3] Reiter's syndrome, a form of reactive arthritis, is an uncommon but debilitating syndrome caused by gastrointestinal or genitourinary infections. (marlerblog.com)
  • Even though most features of Barth syndrome are present at birth or in infancy, affected individuals may not experience health problems until later in life. (medlineplus.gov)
  • In 2008, Dr. Kulik found that every patient with Barth Syndrome that he tested had abnormalities in their cardiolipin, a lipid found inside the mitochondria of cells. (wikipedia.org)
  • 2003. Phospholipid abnormalities in children with Barth syndrome. . (cornell.edu)
  • Genetic analysis of the G4.5 gene in families with suspected Barth syndrome. (lu.se)
  • Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes. (lu.se)
  • Currently, there is no treatment for Barth syndrome, although some of the symptoms can be successfully managed. (wikipedia.org)
  • The age at which individuals with Barth syndrome display symptoms or are diagnosed varies greatly. (medlineplus.gov)
  • This triad of symptoms is called Reiter's Syndrome. (marlerblog.com)
  • Reiter's syndrome is characterized by a triad of arthritis, conjunctivitis, and urethritis, although not all three symptoms occur in all affected individuals. (marlerblog.com)
  • In a Washington State study, while 29% developed arthritis, only 3% developed the triad of symptoms associated with Reiter's syndrome. (marlerblog.com)
  • Along with assisting families and individuals affected by Barth syndrome, Directors respond to inquires from professionals, organizations and students. (barthsyndrome.ca)
  • Susan lives with her husband Chris and son Jared who is affected with Barth syndrome, and Cerebral Palsy She has had four other children, Jessica, who is a Barth syndrome carrier, Jennifer, Jordan, who was affected with Barth syndrome and died at age three from complications of the syndrome and Joshua. (barthsyndrome.ca)
  • The dietary supplement carnitine has aided some children with Barth syndrome but in others it has caused increasing muscle weakness and even precipitated heart failure. (brainfacts.org)
  • The Barth Syndrome Foundation mission is to save lives through education, advances in treatment, and finding a cure for Barth syndrome. (nationalhealthcouncil.org)
  • There is no specific treatment for Barth syndrome. (brainfacts.org)
  • The Board of Directors is the legal authority for the Barth Syndrome Foundation of Canada (BSFCa). (barthsyndrome.ca)
  • In September of 2020, Jasmine joined the Executive of the Barth Syndrome Foundation of Canada (BSFCa) and was elected to the BSFCa Board in June 2020. (barthsyndrome.ca)
  • The Barth Syndrome Foundation of Canada is a completely volunteer, charitable foundation. (barthsyndrome.ca)
  • Barth Syndrome Foundation of Canada does not endorse any drugs, tests, or treatments that we may report. (barthsyndrome.ca)
  • This Ceramic 300 ml Latte Mug ~ Barth Syndrome Foundation of Canada is customized with either the Barth Love or Barth Hope logo on both sides of the mug. (designxpromotions.ca)
  • All three volunteer ambassadors participated in a national campaign for better U.S. Food and Drug Administration (FDA) review processes for ultra-rare indications, like Barth syndrome. (barthsyndrome.org)
  • Barth syndrome, unfortunately, is one of the more than 6,500 rare diseases without an approved therapy. (barthsyndrome.org)
  • Barth syndrome is an ultra-rare disease that affects approximately 250 people worldwide. (stealthbt.com)
  • [5] The frequency of postinfectious Reiter's syndrome, however, has not been well described. (marlerblog.com)
  • All research applications are reviewed by the BSF's world leading Scientific and Medical Advisory Board which consists of experts in various fields relevant to Barth syndrome. (barthsyndrome.ca)
  • Supports families and individuals affected by Barth syndrome through education, awareness, and research grant programs. (brainfacts.org)
  • Recently, Lynda Sedefian, parent of two sons with Barth syndrome, Erik and Derek, met with Rep. Paul Tonko [D-NY-20] to discuss his support of the Barth Syndrome Awareness Day Resolution in the US House of Representatives (H.Res.276). (barthsyndrome.org)
  • Barth syndrome is estimated to affect 1 in 300,000 to 400,000 individuals worldwide. (medlineplus.gov)
  • This program is for Barth syndrome affected individuals and their families. (barthsyndrome.ca)
  • Therefore this study aimed to explore self-regulation and coping strategies and inter-personal responses in individuals and families affected by Barth syndrome. (biomedcentral.com)
  • If a patient is thought to have carcinoid syndrome, blood and urine tests must be performed to determine levels of bioactive substances secreted by carcinoid tumors. (medscape.com)
  • Some boys with this condition experience a growth spurt in puberty and are of average height as adults, but many men with Barth syndrome continue to have short stature in adulthood. (medlineplus.gov)
  • Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome. (lu.se)
  • Since the 2005 BSF grant cycle, we have participated in funding approved Barth syndrome specific research. (barthsyndrome.ca)
  • In contrast to adult primary pulmonary hypertension, the newborn syndrome is not defined by a specific pressure of the pulmonary circulation. (medscape.com)
  • Newborns with Barth syndrome are often smaller than normal, and their growth continues to be slow throughout life. (medlineplus.gov)
  • a patient with ovarian teratomas, whose secretory products enter into the systemic circulation, may present with this syndrome without liver metastasis. (medscape.com)
  • As the only organization globally representing the Barth syndrome community, BSF has been on the front lines with the FDA, advocating for effective, fair. (barthsyndrome.org)
  • While the decision is a setback for the Barth syndrome community, we recognize. (barthsyndrome.org)