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Pallister–Hall Syndrome
Pallister–Hall syndrome (abbreviated PHS) is a disorder that affects the development of many parts of the body. It is named for Judith Hall and Philip Pallister. Presentation Most people with this condition have extra fingers and/or toes (polydactyly), and the skin between some fingers or toes may be fused (cutaneous syndactyly). An abnormal growth in the brain called a hypothalamic hamartoma is characteristic of this disorder. In many cases, these growths do not cause any medical problems; however, some hypothalamic hamartomas lead to seizures or hormone abnormalities that can be life-threatening in infancy. Other features of Pallister–Hall syndrome include a malformation of the airway called a bifid epiglottis, laryngeal cleft, an obstruction of the anal opening (imperforate anus), and kidney abnormalities. Although the signs and symptoms of this disorder vary from mild to severe, only a small percentage of affected people have serious complications. Seizures As noted ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Temporal Lobe
The temporal lobe is one of the four Lobes of the brain, major lobes of the cerebral cortex in the brain of mammals. The temporal lobe is located beneath the lateral fissure on both cerebral hemispheres of the mammalian brain. The temporal lobe is involved in processing sensory input into derived meanings for the appropriate retention of visual memory, language comprehension, and emotion association. ''Temporal'' refers to the head's Temple (anatomy), temples. Structure The Temple (anatomy)#Etymology, temporal Lobe (anatomy), lobe consists of structures that are vital for declarative or long-term memory. Declarative memory, Declarative (denotative) or Explicit memory, explicit memory is conscious memory divided into semantic memory (facts) and episodic memory (events). Medial temporal lobe structures that are critical for long-term memory include the hippocampus, along with the surrounding Hippocampal formation, hippocampal region consisting of the Perirhinal cortex, perirhinal, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Raul Rosas Jr
Raul, Raúl and Raül are the Italian, Portuguese, Romanian, Spanish, Galician, Asturian, Basque, Aragonese, and Catalan forms of the Anglo-Germanic given name Ralph or Rudolph. They are cognates of the French Raoul. Raul, Raúl or Raül may refer to the: * Raoul (founder of Vaucelles Abbey) (d. 1152), also known as Saint Raul * Raúl Acosta (born 1962), Colombian road cyclist * Raúl Alfonsín (1927–2009), former President of Argentina (1983–89) * Raúl Albiol (born 1985), Spanish footballer * Raul Amaya (born 1986), American mixed martial artist * Raúl Baena (born 1989), Spanish association football player * Raul Boesel (born 1957), Brazilian race car driver * Raúl Castañeda (born 1982), Mexican boxer * Raúl Castro (born 1931), First Secretary of the Communist Party of Cuba, brother of Fidel Castro * Raúl Correia (born 1993), Angolan footballer * Raúl Diago (born 1965), Cuban volleyball player * Raúl de Tomás (born 1994), Spanish footballer * Raul Di Blasio ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
George William Helon
George Helon (born 1965), also known under the pen names George Wieslaw Helon and Jerzy Wieslaw Helon, is an Australian author, businessman, and historian of Polish descent. Helon is on the board of directors of the Polish Nobility Association Foundation. He has written numerous ethnographic and etymological books, including ''Aboriginal Australia'', ''The English-Gooreng/Gooreng-English Dictionary'', and ''First Names of the Polish Commonwealth'' (which he co-authored with William F. Hoffman). He is also the founder and CEO of MedicReady, an international award winning company in Australia that produces accident and emergency medical data first response kits and cards. Early life and education George William Helon was born Wieslaw George Helon in 1965 in Bridgnorth, Shropshire, England. His family has noble Polish ancestry, and Helon is a hereditary Count and Nobleman of the Polish Kingdom and Polish-Lithuanian Commonwealth. He was born with a rare autosomal genetic disorde ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Greig Cephalopolysyndactyly Syndrome
Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe. People with this condition typically have one or more extra fingers or toes (polydactyly) or an abnormally wide thumb or big toe (hallux). Presentation The skin between the fingers and toes may be fused (cutaneous syndactyly). This disorder is also characterized by widely spaced eyes (ocular hypertelorism), an abnormally large head size (macrocephaly), and a high, prominent forehead. Rarely, affected individuals may have more serious medical problems including seizures and developmental delay. Pathophysiology Greig cephalopolysyndactyly syndrome is a chromosomal condition related to chromosome 7. Mutations in the ''GLI3'' gene cause Greig cephalopolysyndactyly syndrome. The ''GLI3'' gene provides instructions for making a protein that controls gene expression, which is a process that regul ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene Expression
Gene expression is the process by which information from a gene is used in the synthesis of a functional gene product that enables it to produce end products, protein or non-coding RNA, and ultimately affect a phenotype, as the final effect. These products are often proteins, but in non-protein-coding genes such as transfer RNA (tRNA) and small nuclear RNA (snRNA), the product is a functional non-coding RNA. Gene expression is summarized in the central dogma of molecular biology first formulated by Francis Crick in 1958, further developed in his 1970 article, and expanded by the subsequent discoveries of reverse transcription and RNA replication. The process of gene expression is used by all known life—eukaryotes (including multicellular organisms), prokaryotes (bacteria and archaea), and utilized by viruses—to generate the macromolecular machinery for life. In genetics, gene expression is the most fundamental level at which the genotype gives rise to the phenotype, '' ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GLI3
Zinc finger protein GLI3 is a protein that in humans is encoded by the ''GLI3'' gene. This gene encodes a protein that belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH1) gene expression. It is also thought to play a role during embryogenesis. Role in development Gli3 is a known transcriptional repressor but may also have a positive transcriptional function. Gli3 represses dHand and Gremlin, which are involved in developing digits. There is evidence that Shh-controlled processing (e.g., cleavage) regulates transcriptional activity of Gli3 similarly to that of Ci. Gli3 mutant mice have many abnormalities including CNS and lung defects and limb polydactyly. In the developing mouse limb bud, Gli3 derepression predominantly regulate ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Precocious Puberty
In medicine, precocious puberty is puberty occurring at an unusually early age. In most cases, the process is normal in every aspect except the unusually early age and simply represents a variation of normal development. In a minority of children with precocious puberty, the early development is triggered by a disease such as a tumor or injury of the brain. Even when there is no disease, unusually early puberty can have adverse effects on social behavior and psychological development, can reduce adult height potential, and may shift some lifelong health risks. Central precocious puberty can be treated by suppressing the pituitary hormones that induce sex steroid production. The opposite condition is delayed puberty. The term is used with several slightly different meanings that are usually apparent from the context. In its broadest sense, and often simplified as early puberty, "precocious puberty" sometimes refers to any physical sex hormone effect, due to any cause, occurring ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Frontal Lobe
The frontal lobe is the largest of the four major lobes of the brain in mammals, and is located at the front of each cerebral hemisphere (in front of the parietal lobe and the temporal lobe). It is parted from the parietal lobe by a groove between tissues called the central sulcus and from the temporal lobe by a deeper groove called the lateral sulcus (Sylvian fissure). The most anterior rounded part of the frontal lobe (though not well-defined) is known as the frontal pole, one of the three poles of the cerebrum. The frontal lobe is covered by the frontal cortex. The frontal cortex includes the premotor cortex, and the primary motor cortex – parts of the motor cortex. The front part of the frontal cortex is covered by the prefrontal cortex. There are four principal gyri in the frontal lobe. The precentral gyrus is directly anterior to the central sulcus, running parallel to it and contains the primary motor cortex, which controls voluntary movements of specific body parts ... [...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 T ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Judith Goslin Hall
Judith Goslin Hall (born July 3, 1939) is a pediatrician, clinical geneticist and dysmorphology, dysmorphologist who is a dual citizen of the United States and Canada. Early life and education The daughter of a minister, Judith Goslin Hall was born on July 3, 1939, in Boston, Massachusetts. She graduated from Garfield High School (Seattle), Garfield High School in Seattle and then attended Wellesley College in Wellesley, Mass. from which she earned her Bachelor of Arts degree in 1961. She went to medical school in Seattle at the University of Washington (UW) from which she received an Doctor of Medicine, MD degree in 1966. She was also awarded an Master of Science, MS degree in Genetics from University of Washington, UW. She did her Pediatric training at Johns Hopkins Hospital, and did her fellowships in Medical Genetics and Pediatric Endocrinology. Career In 1972, she returned to the University of Washington School of Medicine and was given a joint appointment in the Dep ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
