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Top 10 Weird Anomalies in Medicine

Top 10 Weird Anomalies in Medicine

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Published by: jadito on May 13, 2007
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The most strange anomalies in medicine, all of them are rare diseases with bizarresigns and symptoms. Some of them have already been described in MedTempus. Iindicate so with links. They are ordered from greater to smaller frequency.
10-Congenital insensitivity to pain
Frequency 
: 100 documented cases in U.S.A. Thefrequency in other countries is unknown and it isusually undiagnosed.
Cause
: Recently discovered. It is caused by amutation in a gene implicated in the synthesis of atype of sodium channel which is mainly located inneurons associated with the reception andtransmission of pain stimulus.
Description
: They are totally normal people in the sense of touch and in thesensibility of cool, heat, pressure and tickling. However, with a normal act wich would cause pain (as to nail a needle) it does not cause them any painful sensation. As a result of this, they usually die younger by traumatism and several injuries because of their lack of pain perception. They must be under supervision in early agesso that they can´t injure themselves.
9-Moebius Syndrome
Frequency 
: Around 80 documented cases in Spain, 200 inU.K… In Europe, around 300 kids appear with this syndromeeach year.
Cause
: Unknown. Nobody knows if those that are affected inthe origine of the disesase are nerves, brain stem or muscles.Many and varied hypothesis but without proofs that confirmthem.
Description
:Because some face nerves are not developed, thepeople who are born with this syndrome lack face expression.They cannot smile, frown, move the eyes laterally or control the blinking. They are often found sleeping with the open eyes. They have greatdifficulties in sucking, swallowing, speaking and any activity in which are impliedmuscles of the face.
8-True Hermaphroditism
Frequency 
: Around 500 documented cases in the world. The real frequency in thepopulation is not known.
Cause
: Hermaphrodites are chimeras. It is caused by the fusion of two zygotes of differente sex. That is to say, a first spermatozoid would fertilize a ovum and, later,another spermatozoid would fertilize another ovum. The zygotes that would beformed and that were destined to being twins, end up fusing and becoming an only 
 
individual that, genetically, is woman and man at the same time. It is unknown why that fusion of zygotes takes place.
Description
: Hermaphrodites have both testicular and ovarian tissue. These twocan be mixed, wich is called ovotestis or be separated elements, on the one hand atesticle and on the other an ovary. The external genitals are ambiguous and havecomponents of both sexes. Hermaphrodites can have femenine or masculineappearance.
7-Fibrodysplasia ossificans progressiva
Frequency 
: 200-300 documented casesaround the world. This anomaly is oftenundiagnosed. It is estimated that one caseappears in two million births.
Cause
: Unknown. It is a disease withautosomal dominant inheritance. Several genesin charge to synthesize bone growth factors areimplied.
Description
: Any small injury to connectivetissue (muscles, ligaments, and tendons) can result in the formation of hard bonearound the damaged site. Children are born with a characteristic malformation of thegreat toes and begin to develop heterotopic (extra) bone formation during early childhood. Eventually, a second skeleton begins to form that severely restrictsmobility.In many cases, injuries can cause joints to become permanently frozen in place. Thegrowths cannot be removed with surgery because such removal causes the body to“repair” the area of surgery with more bone.
Frequency 
: Between 200-300 well-known casesall around the world. For being cause of suddendeath it is thought that the well-known cases areonly the tip of iceberg and that, in fact, 1 baby of each 200,000 which they are born could have thisdisease.
Cause
: Partially known. The main cause is one orseveral mutations of PHOX2B gene with Autosomal Dominant Inheritance. Themechanisms of the involuntary breathing do not work properly. When sleeping, the chemical receptores that receive signals (low oxygen or the increase of carbon dioxide in blood) do not get to transmite thenecessary nervous signals so that the breathing occurs.
 
Description
: In slightest forms of Ondine’s Curse, the patient will beable to continue living but, because of unrestful sleep by the lack of oxygen, during the day he will be sleepy, gotten tired easily. He will haveheadaches, increase of the red cell levels…The most serious forms, in which to sleep means a certain death, usually appear from the birth, and most of newborns die without knowing thecause. Nevertheless, in those people in which the disease has gotten worse progressively and get to risk life whenever they sleep, it is usually treated with assisted ventilation during the night.Even so, in spite of all those treatments, any mistake to remain slept without theindicated oxygen therapy, will mean the death.
5-Proteus Syndrome
Frequency 
: At the moment, 200 documented cases allaround the world. It seems that a case apperars by moreof a million births.
Cause
: Unknown. Authors defend that it is probablcaused by a somatic mosaicism of a lethal dominantgene. Other authors suggest that it is caused by arecombination in the embryo, giving rise to three types of cells: Normal cells, cells of minimum growth and cells of excessive growth.
Description
: Exists a great amount of cutaneous andsubcutaneous malformations, with hyperpigmentation, vascular malformations and irregular growth of bones.Partial gigantism of the limbs and the excessive growthof the fingers whereas some zones of the body grow less that what they would have. All of this causes an extreme disfigurement of the person who oftehn are socially.Josep Merrick, the famous “Elephant Man”, suffered from this syndrome.
4-Progeria (Hutchinson-Gilford Syndrome)
Frequency 
: Around 100 documented cases. It seems that appears a case of progeria by each 8 million births, although could be greater since it isn’t diagnosed many times.
Cause
: Partially Known. Most of the cases of progeria take place by mutations of autosomal dominant inheritance in LMNA gene. This gene participates in themaintenance of nuclear stability and the organization of chromatin. It could also takepart in the regulation of genetic expression, synthesis and repair of DNA 
Description
: People with progeria age very quickly from the childhood. When they are newborns they have a totally normal appearance but they are growing more andmore slowly that the other children and develop a very characteristic face expression.

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