2012 Group Project 4: Difference between revisions
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===Kallman Syndrome=== | ===Kallman Syndrome=== | ||
====Introduction and Epidemiology==== | ====Introduction and Epidemiology==== | ||
Kallmann syndrome is a clinically and genetically heterogeneous disorder, described as a hypogonadotropic hypogonadism characterized by a diminished or absent sense of smell <ref>Schoenwolf, G. C. & Larsen, W. J. (2013). ''Human Embryology'' (4th ed.). Philadelphia, PA: Elsevier Inc. </ref>. The incidence of this disease is between 1 in 10,000 and 1 in 60,000 people, affecting males to females in a 5:1 ratio<ref>Schoenwolf, G. C. & Larsen, W. J. (2013). ''Human Embryology'' (4th ed.). Philadelphia, PA: Elsevier Inc. </ref>. Anosmia or hyposmia results because the olfactory bulbs and olfactory nerves fail to develop properly. Hypogonadism results because the hypothalamus fails to produce sufficient GnRH (Gonadotropin-releasing hormone), a hormone required for normal development of the gonads (discussed in Ch. 15). Kallmann syndrome can be inherited as an autosomal dominant or autosomal recessive trait, a digenic trait or an X-linked recessive trait <ref>Schoenwolf, G. C. & Larsen, W. J. (2013). ''Human Embryology'' (4th ed.). Philadelphia, PA: Elsevier Inc. </ref> | Kallmann syndrome is a clinically and genetically heterogeneous disorder, described as a hypogonadotropic hypogonadism characterized by a diminished or absent sense of smell <ref>Schoenwolf, G. C. & Larsen, W. J. (2013). ''Human Embryology'' (4th ed.). Philadelphia, PA: Elsevier Inc. </ref>. The incidence of this disease is between 1 in 10,000 and 1 in 60,000 people, affecting males to females in a 5:1 ratio<ref>Schoenwolf, G. C. & Larsen, W. J. (2013). ''Human Embryology'' (4th ed.). Philadelphia, PA: Elsevier Inc. </ref>. Anosmia or hyposmia results because the olfactory bulbs and olfactory nerves fail to develop properly. Hypogonadism results because the hypothalamus fails to produce sufficient GnRH (Gonadotropin-releasing hormone), a hormone required for normal development of the gonads (discussed in Ch. 15). Kallmann syndrome can be inherited as an autosomal dominant or autosomal recessive trait, a digenic trait or an X-linked recessive trait <ref>Schoenwolf, G. C. & Larsen, W. J. (2013). ''Human Embryology'' (4th ed.). Philadelphia, PA: Elsevier Inc. </ref><ref name="PMID21682876"><pubmed>21682876</pubmed></ref>. | ||
====Genetic and Molecular Basis==== | ====Genetic and Molecular Basis==== |
Revision as of 21:32, 23 August 2012
Olfaction Development
Introduction
The sense of smell, or otherwise known as Olfaction is the sense mediated by sensory cells located in the nasal cavity. Chemo receptors within the naval cavity are activated by chemicals in the air which are known as odorants. Odorants produce olfactory sensation at very low concentration, and through the reaction with chemoreceptors enables the sense of smell in humans. The olfactory system are often divide into a peripheral mechanism, activated by an external stimulus and transforming it into an electric signal in neurons, and a central mechanism where all signals formed by olfactory are integrated in the central nervous system and processed to recognise odor. Over 1000 genes which make up three percent of the total human genome which encode for olfactory receptor types which can each detect a small number of related molecules and respond with different level of intensity. It has been discovered that olfactory receptor cells are highly specialized to particular odors.
History of Discovery
Julius Kollmann The 2004 Nobel Prize in Physiology or Medicine was won by Linda B. Buck and Richard Axel for their work on the olfactory system.
Timeline of developmental process
Week/Stage | Description | Image |
'1. | This will explain the placode formation [1]. | |
'2 | This will explain the telencephelon development [1] | |
3 | explanation [2] | |
4 | word linked to glossary explanation | |
5 | info | image
|
Structure
During different stages of embryonic development
Normal Function
Abnormalities
Kallman Syndrome
Introduction and Epidemiology
Kallmann syndrome is a clinically and genetically heterogeneous disorder, described as a hypogonadotropic hypogonadism characterized by a diminished or absent sense of smell [3]. The incidence of this disease is between 1 in 10,000 and 1 in 60,000 people, affecting males to females in a 5:1 ratio[4]. Anosmia or hyposmia results because the olfactory bulbs and olfactory nerves fail to develop properly. Hypogonadism results because the hypothalamus fails to produce sufficient GnRH (Gonadotropin-releasing hormone), a hormone required for normal development of the gonads (discussed in Ch. 15). Kallmann syndrome can be inherited as an autosomal dominant or autosomal recessive trait, a digenic trait or an X-linked recessive trait [5][6].
Genetic and Molecular Basis
Characteristic Features
- hypogonadotropic [7]
- hypogonadism:
- anosmia: decreased or absent sense of smell
Diagnosis and Treatment
Congenital Anosmia
Genetic and Molecular Basis
Characteristic Features
Treatment
Genes involved
Current Research
Glossary and Abbreviation
Olfactory bulb: The primary part of brain which processes olfactory information.
Olfactory epithelium: mucous membrane superior to the nasal cavity which contain olfactory nerve cells.
Olfactory nerve cell: Cells in the olfactory epithelium which detect various odors and signal the information to the CNS.
Pheromone: Any molecules (scent) released by animals and affect the behavior of organisms of the same species via the olfactory system.
References
- ↑ 1.0 1.1 <pubmed>putpmidhere</pubmed>
- ↑ Cite error: Invalid
<ref>
tag; no text was provided for refs namedPMIDreference
- ↑ Schoenwolf, G. C. & Larsen, W. J. (2013). Human Embryology (4th ed.). Philadelphia, PA: Elsevier Inc.
- ↑ Schoenwolf, G. C. & Larsen, W. J. (2013). Human Embryology (4th ed.). Philadelphia, PA: Elsevier Inc.
- ↑ Schoenwolf, G. C. & Larsen, W. J. (2013). Human Embryology (4th ed.). Philadelphia, PA: Elsevier Inc.
- ↑ <pubmed>21682876</pubmed>
- ↑ <pubmed>16932275</pubmed>
External Links
Development of the Olfactory System
The Development of the Olfactory System 2
General Physiology of Olfaction
External Links Notice - The dynamic nature of the internet may mean that some of these listed links may no longer function. If the link no longer works search the web with the link text or name. Links to any external commercial sites are provided for information purposes only and should never be considered an endorsement. UNSW Embryology is provided as an educational resource with no clinical information or commercial affiliation.
--Mark Hill 12:22, 15 August 2012 (EST) Please leave the content listed below the line at the bottom of your project page.
2012 Projects: Vision | Somatosensory | Taste | Olfaction | Abnormal Vision | Hearing