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AHI1
The Abelson helper integration site 1 (AHI1) is a protein coding gene that is known for the critical role it plays in brain development. Proper cerebellar and cortical development in the human brain depends heavily on AHI1. The AHI1 gene is prominently expressed in the embryonic hindbrain and forebrain. AHI1 specifically encodes the Jouberin protein and mutations in the expression of the gene is known to cause specific forms of Joubert syndrome. Joubert syndrome is autosomal recessive and is characterized by the brain malformations and mental retardation that AHI1 mutations have the potential to induce. AHI1 has also been associated with schizophrenia and autism due to the role it plays in brain development. An AHI1 heterozygous knockout mouse model was studied by Bernard Lerer and his group at Hadassah Medical Center in Jerusalem to elucidate the correlation between alterations in AHI1 expression and the pathogenesis of neuropsychiatric disorders. The core temperatures and co ...
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Joubert Syndrome
Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination. Joubert syndrome is one of the many genetic syndromes associated with syndromic retinitis pigmentosa. The syndrome was first identified in 1969 by pediatric neurologist Marie Joubert in Montreal, Quebec, Canada, while working at the Montreal Neurological Institute and McGill University. Signs and symptoms Most of the signs and symptoms of the Joubert syndrome appear very early in infancy with most children showing delays in gross motor milestones. Although other signs and symptoms vary widely from individual to individual, they generally fall under the hallmark of cerebellum involvement or in this case, lack thereof. Consequently, the most common features include ataxia (lack of muscle control), hyperpnea (abnormal breathing patterns), sleep apnea, abnormal eye and tongue movements, and hypotonia in early childhood. Other malform ...
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Gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a basic unit of heredity and the molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and noncoding genes. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes (many different genes) as well as gen ...
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Hadassah Medical Center
Hadassah Medical Center ( he, הָמֶרְכָּז הָרְפוּאִי הֲדַסָּה) is an Israeli medical organization established in 1934 that operates two university hospitals in Jerusalem – one in Ein Karem and one in Mount Scopus –, as well as schools of medicine, dentistry, nursing, and pharmacology affiliated with the Hebrew University of Jerusalem. Its declared mission is to extend a "hand to all, without regard for race, religion or ethnic origin." The hospital was founded by the Hadassah Women's Zionist Organization of America, which continues to underwrite a large part of its budget today. The Medical Center ranks as the sixth-largest hospital complex in Israel. Across its two campuses, Hadassah Medical Center has over 1,300 beds, 31 operating theaters and nine special intensive care units, and runs five schools of medical professions. History Late Ottoman period (1912–1915) The Hadassah organization was established in 1912 in New York City to provide heal ...
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Autonomic Nervous System
The autonomic nervous system (ANS), formerly referred to as the vegetative nervous system, is a division of the peripheral nervous system that supplies viscera, internal organs, smooth muscle and glands. The autonomic nervous system is a control system that acts largely unconsciously and regulates bodily functions, such as the heart rate, its force of contraction, digestion, respiratory rate, pupillary dilation, pupillary response, Micturition, urination, and sexual arousal. This system is the primary mechanism in control of the fight-or-flight response. The autonomic nervous system is regulated by integrated reflexes through the brainstem to the spinal cord and organ (anatomy), organs. Autonomic functions include control of respiration, heart rate, cardiac regulation (the cardiac control center), vasomotor activity (the vasomotor center), and certain reflex, reflex actions such as coughing, sneezing, swallowing and vomiting. Those are then subdivided into other areas and are also ...
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Corticosterone
Corticosterone, also known as 17-deoxycortisol and 11β,21-dihydroxyprogesterone, is a 21-carbon steroid hormone of the corticosteroid type produced in the cortex of the adrenal glands. It is of minor importance in humans, except in the very rare case of congenital adrenal hyperplasia due to 17α-hydroxylase deficiency. Roles In many species, including amphibians, reptiles, rodents and birds, corticosterone is a main glucocorticoid, involved in regulation of energy, immune reactions, and stress responses. However, in humans, cortisol is the primary glucocorticoid that is produced primarily in the zona fasciculata of the adrenal cortex. Corticosterone has only weak glucocorticoid and mineralocorticoid potencies in humans and is important mainly as an intermediate in the steroidogenic pathway from pregnenolone to aldosterone. Corticosterone is converted to aldosterone by aldosterone synthase, found only in the mitochondria of glomerulosa cells. Glomerulosa cells are found in th ...
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Core Temperature
Normal human body-temperature (normothermia, euthermia) is the typical temperature range found in humans. The normal human body temperature range is typically stated as . Human body temperature varies. It depends on sex, age, time of day, exertion level, health status (such as illness and menstruation), what part of the body the measurement is taken at, state of consciousness (waking, sleeping, sedated), and emotions. Body temperature is kept in the normal range by thermoregulation, in which adjustment of temperature is triggered by the central nervous system. Methods of measurement Taking a person's temperature is an initial part of a full clinical examination. There are various types of medical thermometers, as well as sites used for measurement, including: * In the rectum (rectal temperature) * In the mouth (oral temperature) * Under the arm (axillary temperature) * In the ear (tympanic temperature) * On the skin of the forehead over the temporal artery * Using heat flux ...
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Neuropsychiatry
Neuropsychiatry or Organic Psychiatry is a branch of medicine that deals with psychiatry as it relates to neurology, in an effort to understand and attribute behavior to the interaction of neurobiology and social psychology factors. Within neuropsychiatry, the mind is considered "as an emergent property of the brain", whereas other behavioral and neurological specialties might consider the two as separate entities. Neuropsychiatry preceded the current disciplines of psychiatry and neurology, which previously had common training, however, those disciplines have subsequently diverged and are typically practiced separately. Currently, neuropsychiatry has become a growing subspecialty of psychiatry as it closely relates the fields of neuropsychology and behavioral neurology, and attempts to utilize this understanding to better treat illnesses that fall under both neurological and mental disorder classifications (e.g., autism, Attention deficit hyperactivity disorder, ADHD, Tourette s ...
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Jerusalem
Jerusalem (; he, יְרוּשָׁלַיִם ; ar, القُدس ) (combining the Biblical and common usage Arabic names); grc, Ἱερουσαλήμ/Ἰεροσόλυμα, Hierousalḗm/Hierosóluma; hy, Երուսաղեմ, Erusałēm. is a city in Western Asia. Situated on a plateau in the Judaean Mountains between the Mediterranean Sea, Mediterranean and the Dead Sea, it is one of the List of oldest continuously inhabited cities, oldest cities in the world and is considered to be a holy city for the three major Abrahamic religions: Judaism, Christianity, and Islam. Both Israelis and Palestinians claim Jerusalem as their Capital city, capital, as Israel maintains its primary governmental institutions there and the State of Palestine ultimately foresees it as its seat of power. Because of this dispute, Status of Jerusalem, neither claim is widely recognized internationally. Throughout History of Jerusalem, its long history, Jerusalem has been destroyed at least twice, Sie ...
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Bernard Lerer
Bernard (''Bernhard'') is a French and West Germanic masculine given name. It is also a surname. The name is attested from at least the 9th century. West Germanic ''Bernhard'' is composed from the two elements ''bern'' "bear" and ''hard'' "brave, hardy". Its native Old English reflex was ''Beornheard'', which was replaced by the French form ''Bernard'' that was brought to England after the Norman Conquest. The name ''Bernhard'' was notably popular among Old Frisian speakers. Its wider use was popularized due to Saint Bernhard of Clairvaux (canonized in 1174). Bernard is the second most common surname in France. Geographical distribution As of 2014, 42.2% of all known bearers of the surname ''Bernard'' were residents of France (frequency 1:392), 12.5% of the United States (1:7,203), 7.0% of Haiti (1:382), 6.6% of Tanzania (1:1,961), 4.8% of Canada (1:1,896), 3.6% of Nigeria (1:12,221), 2.7% of Burundi (1:894), 1.9% of Belgium (1:1,500), 1.6% of Rwanda (1:1,745), 1.2% of Germany (1 ...
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Neural Development
The development of the nervous system, or neural development (neurodevelopment), refers to the processes that generate, shape, and reshape the nervous system of animals, from the earliest stages of embryonic development to adulthood. The field of neural development draws on both neuroscience and developmental biology to describe and provide insight into the cellular and molecular mechanisms by which complex nervous systems develop, from nematodes and fruit flies to mammals. Defects in neural development can lead to malformations such as holoprosencephaly, and a wide variety of neurological disorders including limb paresis and paralysis, balance and vision disorders, and seizures, and in humans other disorders such as Rett syndrome, Down syndrome and intellectual disability. Overview of vertebrate brain development The vertebrate central nervous system (CNS) is derived from the ectoderm—the outermost germ layer of the embryo. A part of the dorsal ectoderm becomes speci ...
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Autism
The autism spectrum, often referred to as just autism or in the context of a professional diagnosis autism spectrum disorder (ASD) or autism spectrum condition (ASC), is a neurodevelopmental condition (or conditions) characterized by difficulties in social interaction, verbal and nonverbal communication, and the presence of repetitive behavior and restricted interests. Other common signs include unusual responses to sensory stimuli. Autism is generally understood as a ''spectrum disorder'', which means that it can manifest differently in each person: any given autistic individual is likely to show some, but not all, of the characteristics associated with it, and the person may exhibit them to varying degrees. Some autistic people remain nonspeaking over the course of their lifespan, while others have relatively unimpaired spoken language. There is large variation in the level of support people require, and the same person may present differently at varying times. Historically ...
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