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ROHHAD
Rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare condition whose etiology is currently unknown. ROHHAD mainly affects the endocrine system and autonomic nervous system, but patients can exhibit a variety of signs. Patients present with both alveolar hypoventilation along with hypothalamic dysfunction, which distinguishes ROHHAD from congenital central hypoventilation syndrome (CCHS). ROHHAD is a rare disease, with only 100 reported cases worldwide thus far. The first sign of ROHHAD is a rapid weight gain between 1.5 and 11 years of age. Typically, hypoventilation, or abnormally slow breathing, presents after the rapid onset obesity. Symptoms of hypothalamic dysfunction and autonomic dysfunction present in a variety of ways, but in order for a diagnosis of ROHHAD they must be present in some form. Approximately 40% of patients will develop neuroendocrine tumors. There is also a possibility of behavioral disorders, bu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypoventilation
Hypoventilation (also known as respiratory depression) occurs when ventilation is inadequate (''hypo'' meaning "below") to perform needed respiratory gas exchange. By definition it causes an increased concentration of carbon dioxide (hypercapnia) and respiratory acidosis. Hypoventilation is not synonymous with respiratory arrest, in which breathing ceases entirely and death occurs within minutes due to hypoxia and leads rapidly into complete anoxia, although both are medical emergencies. Hypoventilation can be considered a precursor to hypoxia and its lethality is attributed to hypoxia with carbon dioxide toxicity. Causes Hypoventilation may be caused by: *A medical condition such as stroke affecting the brainstem *Voluntary breath-holding or underbreathing, for example, hypoventilation training or the Buteyko method. *Medication or drugs, typically when taken in accidental or intentional overdose. Opioids and benzodiazepines in particular are known to cause respiratory depre ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Central Hypoventilation Syndrome
Central hypoventilation syndrome (CHS) is a sleep-related breathing disorder that causes ineffective breathing, apnea, or respiratory arrest during sleep (and during wakefulness in severe cases). CHS can either be congenital (CCHS) or acquired (ACHS) later in life. The condition can be fatal if untreated. CCHS was once known as Ondine's curse. ACHS can develop as a result of severe injury or trauma to the brain or brainstem. Congenital cases are very rare and involve a failure of autonomic nervous system, autonomic control of breathing. In 2006, there were only about 200 known cases worldwide. As of 2008, only 1000 total cases were known. The diagnosis may be delayed because of variations in the severity of the manifestations or lack of awareness in the medical community, particularly in milder cases. However, as there have been cases where asymptomatic family members also were found to have CCHS, it may be that these figures only reflect those found to require mechanical ventil ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epigenetics
In biology, epigenetics is the study of stable phenotypic changes (known as ''marks'') that do not involve alterations in the DNA sequence. The Greek prefix '' epi-'' ( "over, outside of, around") in ''epigenetics'' implies features that are "on top of" or "in addition to" the traditional genetic basis for inheritance. Epigenetics most often involves changes that affect the regulation of gene expression, but the term can also be used to describe any heritable phenotypic change. Such effects on cellular and physiological phenotypic traits may result from external or environmental factors, or be part of normal development. The term also refers to the mechanism of changes: functionally relevant alterations to the genome that do not involve mutation of the nucleotide sequence. Examples of mechanisms that produce such changes are DNA methylation and histone modification, each of which alters how genes are expressed without altering the underlying DNA sequence. Gene expressi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Idiopathic Diseases
An idiopathic disease is any disease with an unknown cause or mechanism of apparent spontaneous origin. From Greek ἴδιος ''idios'' "one's own" and πάθος ''pathos'' "suffering", ''idiopathy'' means approximately "a disease of its own kind". For some medical conditions, one or more causes are somewhat understood, but in a certain percentage of people with the condition, the cause may not be readily apparent or characterized. In these cases, the origin of the condition is said to be idiopathic. With some other medical conditions, the root cause for a large percentage of all cases have not been established—for example, focal segmental glomerulosclerosis or ankylosing spondylitis; the majority of these cases are deemed idiopathic. Medical advances and this term Advances in medical science improve the understanding of causes of diseases and the classification of diseases; thus, regarding any particular condition or disease, as more root causes are discovered and as events t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rare Disease
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, an orphan disease is a rare disease whose rarity means there is a lack of a market large enough to gain support and resources for discovering treatments for it, except by the government granting economically advantageous conditions to creating and selling such treatments. Orphan drugs are ones so created or sold. Most rare diseases are genetic and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays. With only four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the rarest known genetic disease. No single cut-off number has been agreed upon for which a disease is considered rare. A disease may be considered rare in one part of the world, or in a particular gr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypothalamus
The hypothalamus () is a part of the brain that contains a number of small nuclei with a variety of functions. One of the most important functions is to link the nervous system to the endocrine system via the pituitary gland. The hypothalamus is located below the thalamus and is part of the limbic system. In the terminology of neuroanatomy, it forms the ventral part of the diencephalon. All vertebrate brains contain a hypothalamus. In humans, it is the size of an almond. The hypothalamus is responsible for regulating certain metabolic processes and other activities of the autonomic nervous system. It synthesizes and secretes certain neurohormones, called releasing hormones or hypothalamic hormones, and these in turn stimulate or inhibit the secretion of hormones from the pituitary gland. The hypothalamus controls body temperature, hunger, important aspects of parenting and maternal attachment behaviours, thirst, fatigue, sleep, and circadian rhythms. Structure Th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Obesity Hypoventilation Syndrome
Obesity hypoventilation syndrome (OHS) is a condition in which severely overweight people fail to breathe rapidly or deeply enough, resulting in low oxygen levels and high blood carbon dioxide (CO2) levels. The syndrome is often associated with obstructive sleep apnea (OSA), which causes periods of absent or reduced breathing in sleep, resulting in many partial awakenings during the night and sleepiness during the day. The disease puts strain on the heart, which may lead to heart failure and leg swelling. Obesity hypoventilation syndrome is defined as the combination of obesity and an increased blood carbon dioxide level during the day that is not attributable to another cause of excessively slow or shallow breathing. The most effective treatment is weight loss, but this may require bariatric surgery to achieve. Weight loss of 25 to 30% is usually required to resolve the disorder. The other first-line treatment is non-invasive positive airway pressure (PAP), usually in the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Boston Children's Hospital
Boston Children's Hospital formerly known as Children's Hospital Boston until 2012 is a nationally ranked, freestanding acute care children's hospital located in Boston, Massachusetts, adjacent both to its teaching affiliate, Harvard Medical School, and to Dana–Farber Cancer Institute. Dana–Farber and Children's jointly operate the Dana–Farber/Boston Children's Cancer and Blood Disorders Center to deliver comprehensive care for all types of childhood cancers. The hospital is home to the largest hospital-based pediatric research program in the world. The hospital features 485 pediatric beds and provides comprehensive pediatric specialties and subspecialties to infants, children, teens, and young adults aged 0–21 throughout Massachusetts, the United States, and the world. The hospital also sometimes treats adults that require pediatric care. The hospital uses the Brigham and Women's Hospital's rooftop helipad and is an ACS verified level I pediatric trauma center, one of t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lurie Children's Hospital
Ann & Robert H. Lurie Children's Hospital of Chicago, formerly Children's Memorial Hospital and commonly known as Lurie Children's, is a nationally ranked pediatric acute care children's hospital located in Chicago, Illinois. The hospital has 360 beds and is affiliated with the Northwestern University Feinberg School of Medicine. The hospital provides comprehensive pediatric specialties and subspecialties to infants, children, teens, and young adults aged 0–21 throughout Illinois and surrounding regions. Lurie Children's also sometimes treats adults that require pediatric care. Ann & Robert H. Lurie Children's Hospital of Chicago also features a state designated Level 1 Pediatric Trauma Center, one of four in the state. The hospital has affiliations with the nearby Northwestern Memorial Hospital and the attached Prentice Women's Hospital. Lurie is located on the university's Streeterville campus with more than 1,665 physicians on its medical staff and 4,000 employees. Ad ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bradycardia
Bradycardia (also sinus bradycardia) is a slow resting heart rate, commonly under 60 beats per minute (BPM) as determined by an electrocardiogram. It is considered to be a normal heart rate during sleep, in young and healthy or elderly adults, and in athletes. In some people, bradycardia below 60 BPM may be associated with fatigue, weakness, dizziness, sweating, and fainting. The term "relative bradycardia" is used to refer to a heart rate slower than an individual's typical resting heart rate. Athletes may have athletic heart syndrome, which includes bradycardia as part of the cardiovascular adaptations to training and participation. The word "bradycardia" is from the Greek βραδύς ''bradys'' "slow", and καρδία ''kardia'' "heart". Classification Sinus Atrial bradycardias are divided into three types. The first, respiratory sinus arrhythmia, is usually found in young and healthy adults. Heart rate increases during inhalation and decreases during exhalation. T ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Trachea
The trachea, also known as the windpipe, is a cartilaginous tube that connects the larynx to the bronchi of the lungs, allowing the passage of air, and so is present in almost all air-breathing animals with lungs. The trachea extends from the larynx and branches into the two primary bronchi. At the top of the trachea the cricoid cartilage attaches it to the larynx. The trachea is formed by a number of horseshoe-shaped rings, joined together vertically by overlying ligaments, and by the trachealis muscle at their ends. The epiglottis closes the opening to the larynx during swallowing. The trachea begins to form in the second month of embryo development, becoming longer and more fixed in its position over time. It is epithelium lined with column-shaped cells that have hair-like extensions called cilia, with scattered goblet cells that produce protective mucins. The trachea can be affected by inflammation or infection, usually as a result of a viral illness affecting other ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tracheotomy
Tracheotomy (, ), or tracheostomy, is a surgical airway management procedure which consists of making an incision (cut) on the anterior aspect (front) of the neck and opening a direct airway through an incision in the Vertebrate trachea, trachea (windpipe). The resulting Stoma (medicine), stoma (hole) can serve independently as an airway or as a site for a tracheal tube or tracheostomy tube to be inserted; this tube allows a person to breathe without the use of the nose or mouth. Etymology and terminology The etymology of the word ''tracheotomy'' comes from two Greek language, Greek words: the root (linguistics), root ''tom-'' (from Ancient Greek, Greek τομή ''tomḗ'') meaning "to cut", and the word ''trachea'' (from Greek τραχεία ''tracheía''). The word ''tracheostomy'', including the root ''stom-'' (from Greek στόμα ''stóma'') meaning "mouth," refers to the making of a semi-permanent or permanent opening, and to the opening itself. Some sources offer differ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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