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Gómez–López-Hernández Syndrome
Gómez–López-Hernández syndrome (GLH) or cerebellotrigeminal-dermal dysplasia is a rare neurocutaneous ( Phakomatosis) disorder affecting the trigeminal nerve and causing several other neural and physical abnormalities. Gómez–López-Hernández syndrome has been diagnosed in only 34 people. Cases of Gómez–López-Hernández syndrome may be under-reported as other diseases share the characteristics of cerebellar malformation shown in Gómez–López-Hernández syndrome. Gómez–López-Hernández syndrome was first characterized in 1979. Presentation Physical Physical characteristics of the syndrome can vary and are not universal. People with Gómez–López-Hernández syndrome often have a short skull (brachycephaly), thin lips, low-set and posterior-angled ears, and scalp alopecia above both ears. This bilateral scalp alopecia is the most consistent physical characteristic of Gómez–López-Hernández syndrome. In addition to the shortness of the skull, it is also mis ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phakomatosis
Phakomatoses, also known as neurocutaneous syndromes, are a group of multisystemic diseases that most prominently affect structures primarily derived from the ectoderm such as the central nervous system, skin and eyes. The majority of phakomatoses are single-gene disorders that may be inherited in an autosomal dominant, autosomal recessive or X-linked pattern. Presentations may vary dramatically between patients with the same particular syndrome due to mosaicism, variable expressivity, and penetrance. Many phakomatoses are caused by mutations which alter functioning of the RAS–mitogen-activated protein kinase (MAPK) pathway and the PI3K/AKT/mTOR pathway that regulates cellular growth, differentiation, proliferation and death. This results in a tendency for individuals with these mutations to develop various types of benign or malignant tumors depending on the particular mutation. The presence of these tumors may result in functional and/or cosmetic problems depending on their t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ventricular System
In neuroanatomy, the ventricular system is a set of four interconnected cavities known as cerebral ventricles in the brain. Within each ventricle is a region of choroid plexus which produces the circulating cerebrospinal fluid (CSF). The ventricular system is continuous with the central canal of the spinal cord from the fourth ventricle, allowing for the flow of CSF to circulate. All of the ventricular system and the central canal of the spinal cord are lined with ependyma, a specialised form of epithelium connected by tight junctions that make up the blood–cerebrospinal fluid barrier. Structure The system comprises four ventricles: * lateral ventricles right and left (one for each hemisphere) * third ventricle * fourth ventricle There are several foramina, openings acting as channels, that connect the ventricles. The interventricular foramina (also called the foramina of Monro) connect the lateral ventricles to the third ventricle through which the cerebrospinal ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndromes Affecting The Nervous System
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a syn ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Trigeminal Nerve
In neuroanatomy, the trigeminal nerve (literal translation, lit. ''triplet'' nerve), also known as the fifth cranial nerve, cranial nerve V, or simply CN V, is a cranial nerve responsible for Sense, sensation in the face and motor functions such as biting and chewing; it is the most complex of the cranial nerves. Its name (''trigeminal'', ) derives from each of the two nerves (one on each side of the pons) having three major branches: the ophthalmic nerve (V), the maxillary nerve (V), and the mandibular nerve (V). The ophthalmic and maxillary nerves are purely sensory, whereas the mandibular nerve supplies motor as well as sensory (or "cutaneous") functions. Adding to the complexity of this nerve is that Autonomic nervous system, autonomic nerve fibers as well as special sensory fibers (taste) are contained within it. The motor division of the trigeminal nerve derives from the Basal plate (neural tube), basal plate of the embryonic pons, and the sensory division originates in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Brain Disorders
Neurological disorders represent a complex array of medical conditions that fundamentally disrupt the functioning of the nervous system. These disorders affect the brain, spinal cord, and nerve networks, presenting unique diagnosis, treatment, and patient care challenges. At their core, they represent disruptions to the intricate communication systems within the nervous system, stemming from genetic predispositions, environmental factors, infections, structural abnormalities, or degenerative processes. The impact of neurological disorders is profound and far-reaching. Conditions like epilepsy create recurring seizures through abnormal electrical brain activity, while multiple sclerosis damages the protective myelin covering of nerve fibers, interrupting communication between the brain and body. Parkinson's disease progressively affects movement through the loss of dopamine-producing nerve cells, and strokes can cause immediate and potentially permanent neurological damage by interr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Manuel Rodríguez Gómez
Manuel Rodríguez Gómez (July 4, 1928 – January 21, 2006) was an American neurologist most noted for his work on tuberous sclerosis, a rare genetic disorder. Life Manuel Gómez was born in the Spanish city of Minaya in La Mancha. He spent his childhood outside Sevilla in a town called Alcala de Guadaira, where his father had a pharmacy, and summers in Cadiz. As a child he recalled seeing the great flamenco singer, Bernardo, El de los Lobitos, walking on the street. He attended boarding school with his brother and was schooled by a group of strict priests. Recently the mayor of Alcala renamed a street Calle Manuel Rodriguez Gomez. He lived through the Spanish Civil War and recalled at least one near miss when he and his older brother were rescued from hiding under a bridge by an old man when they heard the sound of a German dive bomber. After running away and hearing the explosion they looked up to see that the bridge that had been the target was demolished. As his father ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mendelian Inheritance
Mendelian inheritance (also known as Mendelism) is a type of biological inheritance following the principles originally proposed by Gregor Mendel in 1865 and 1866, re-discovered in 1900 by Hugo de Vries and Carl Correns, and later popularized by William Bateson. These principles were initially controversial. When Mendel's theories were integrated with the Boveri–Sutton chromosome theory of inheritance by Thomas Hunt Morgan in 1915, they became the core of classical genetics. Ronald Fisher combined these ideas with the theory of natural selection in his 1930 book '' The Genetical Theory of Natural Selection'', putting evolution onto a mathematical footing and forming the basis for population genetics within the modern evolutionary synthesis. History The principles of Mendelian inheritance were named for and first derived by Gregor Johann Mendel, a nineteenth-century Moravian monk who formulated his ideas after conducting simple hybridization experiments with pea p ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Consanguinity
Consanguinity (from Latin '':wikt: consanguinitas, consanguinitas'' 'blood relationship') is the characteristic of having a kinship with a relative who is descended from a common ancestor. Many jurisdictions have laws prohibiting people who are closely related by blood from Consanguine marriage, marrying or having sexual relations with each other. The degree of relationship, degree of consanguinity that gives rise to this prohibition varies from place to place. On the other hand, around 20% of the global population lives in areas where some consanguinous marriages are preferred. The degree of relationships are also used to determine heirs of an estate according to statutes that govern intestacy, intestate succession, which also vary from jurisdiction to jurisdiction. In some communities and time periods, cousin marriage is allowed or even encouraged; in others, it is taboo, and considered to be incest. The degree of relative consanguinity can be illustrated with a ''consanguinity ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bipolar Disorder
Bipolar disorder (BD), previously known as manic depression, is a mental disorder characterized by periods of Depression (mood), depression and periods of abnormally elevated Mood (psychology), mood that each last from days to weeks, and in some cases months. If the elevated mood is severe or associated with psychosis, it is called ''mania''; if it is less severe and does not significantly affect functioning, it is called ''hypomania''. During mania, an individual behaves or feels abnormally energetic, happy, or irritable, and they often make impulsive decisions with little regard for the consequences. There is usually, but not always, a Sleep deprivation, reduced need for sleep during manic phases. During periods of depression, the individual may experience crying, have a negative outlook on life, and demonstrate poor eye contact with others. The risk of suicide is high. Over a period of 20 years, 6% of those with bipolar disorder died by suicide, with about one-third Suicide ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ADHD
Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterised by symptoms of inattention, hyperactivity, impulsivity, and emotional dysregulation that are excessive and pervasive, impairing in multiple contexts, and developmentally inappropriate. ADHD symptoms arise from executive dysfunction. Impairments resulting from deficits in self-regulation such as time management, inhibition, task initiation, and sustained attention can include poor professional performance, relationship difficulties, and numerous health risks, collectively predisposing to a diminished quality of life and a reduction in life expectancy. As a consequence, the disorder costs society hundreds of billions of US dollars each year, worldwide. It is associated with other mental disorders as well as non-psychiatric disorders, which can cause additional impairment. While ADHD involves a lack of sustained attention to tasks, inhibitory deficits also can lead to diffic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Growth Hormone
Growth hormone (GH) or somatotropin, also known as human growth hormone (hGH or HGH) in its human form, is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration in humans and other animals. It is thus important in human development. GH also stimulates production of insulin-like growth factor 1 (IGF-1) and increases the concentration of glucose and free fatty acids. It is a type of mitogen which is specific only to the receptors on certain types of cells. GH is a 191-amino acid, single-chain polypeptide that is synthesized, stored and secreted by somatotropic cells within the lateral wings of the anterior pituitary gland. A recombinant form of HGH called somatropin ( INN) is used as a prescription drug to treat children's growth disorders and adult growth hormone deficiency. In the United States, it is only available legally from pharmacies by prescription from a licensed health care provider. In recent years in the United States, some health ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Developmental Disabilities
Developmental disability is a diverse group of chronic conditions, comprising mental or physical impairments that arise before adulthood. Developmental disabilities cause individuals living with them many difficulties in certain areas of life, especially in "language, mobility, learning, self-help, and independent living".Center for Disease Control and Prevention. (2013)Developmental disabilities.Retrieved October 18, 2013 Developmental disabilities can be detected early on and persist throughout an individual's lifespan. Developmental disability that affects all areas of a child's development is sometimes referred to as global developmental delay. The most common developmental disabilities are: * Motor disorders, and learning difficulties such as dyslexia, Tourette's syndrome, dyspraxia, dysgraphia, dyscalculia, and nonverbal learning disorder. * autistic spectrum disorders, Autism spectrum disorder (ASD, formerly the pervasive developmental disorders, PDD umbrella covering Asperg ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
