2010年8月7日星期六

Meow syndrome

Meow syndrome




Abstract correcting edit summary

Cat called syndrome (cri du chat syndrome), also known as cri-du-chat syndrome. Common than Down's syndrome. In 1963, French scientists first reported a specific disease, a sick child's cry is like a cat in the same name, known as the "cat is called syndrome." "Cat called syndrome" is due on the 5th chromosome loss caused by a fragment, so it can be called "5 on chromosome deletion syndrome."

Cat called Syndrome - Introduction

Cat called syndrome is due to loss of chromosome 5 caused a fragment

Cat called syndrome (criduchatsyndrome), also known as cri-du-chat syndrome. Common than Down's syndrome. In 1963, Lejeune first reported the disease.

"Cat called syndrome" is a short arm of chromosome abnormalities, the rate was one hundred thousandth, both at home and abroad are rare. Children generally showed growth retardation, congenital anomalies of the central head, cry strange, striae change characteristics, and have mental retardation, and its most obvious feature is crying like a cat call. Allegedly sick child crying Department of the larynx may be dysplastic abnormalities caused by brain damage may also be relevant. According to clinical observations, children with normal neonatal HI cry, cry like a cat called significant, in addition, children from the wide eyes, ear position is low, and the associated more hair, the mouth is higher on the palate. Medical Genetics, experts here said, with "cat called syndrome" in infants, Down's syndrome, currently no ideal treatment.





Meow syndrome

In 1963, French scientists first reported a specific disease, a sick child's cry is like a cat in the same name, known as the "cat is called syndrome." "Cat called syndrome" is due on the 5th chromosome loss caused by a fragment, so it can be called "5 on chromosome deletion syndrome." According to foreign reports, "a cat called syndrome" in neonatal morbidity was 1/45000; in mental retardation who, the rate was 3 / 2000.

Cat called syndrome "in children with poor general condition and reaction, crying like a cat called thin sample, the first small and round, the two eyes from too wide, small jaw, neck is shorter, low ear, his hands were" palm "palm pattern. asked her mother learned: Mothers with threatened abortion in early pregnancy. neonatal feeding difficulties, spits up clear, there is persistent jaundice and history of birth to now has been hi noisy crying, irritability, crying low.

Probability of a cat called syndrome is about 1 / 50000, this disease is due to the short arm of chromosome 5 deletion caused. Cat called the most significant features of Syndrome, the baby of a weak, sad, crying like a cat call, this crying occurs in the breath, breathe in does not appear, with age, cat-like cry called sound better. Disease mortality is low, most patients can live to be adults, but were lower than normal body weight and length. As the disease with severe mental retardation and motor retardation, the proposed line of rehabilitation training in order to promote the development of motor function and mental development.

Cat called Syndrome - Symptoms

During the baby is crying like a cat called the most important characteristics of these patients, which is functioning nervous system defects. But the strange symptoms of patients with age will become increasingly obvious, even disappear. In addition, patients may also have a myriad of symptoms and abnormal signs. Some 331 patients by analysis of the circumstances listed in these patients may have as many exceptions as much as 50, too many types of features would be difficult to come out. Of course, not every patient has the same number of abnormal 50, but only part of the performance of his. The most common abnormal findings:





Meow syndrome

1, smart growth is low, the general intelligence level of adult patients with only normal age of l / 5.



2, low muscle tone childhood to adulthood is transformed into muscular tension is too high.



3, rounded face, "moon-like."



4, two distance too wide.



5, outer corner of the eye and so on down the slope.



Most of these features are more apparent in childhood, may disappear with age.



Clinical manifestations:



Crying aloud when the small, light weight, small head, small Yan, small throat, epicanthus, the most prominent is called neonatal cry like a cat, its mental retardation, strabismus, eyes and wide, and congenital heart disease, high palatal arch, palm exception, Zhi Zhi is too long, etc..

Cat called syndrome - diagnosis is based on

"Cat called syndrome" is the short arm of chromosome No. 5 due to lack of genetic disease

1. Children born with cat-like cry is called, with age and gradually disappear after 2 years no longer exist. Female than male patients.

2. Microcephaly, occipital flattening, round face, eyes and wide, low set ears, small chin, high arch palate, epicanthus, down the ramp outside the eyelids. Low muscle tone or increased, or the ear canal, spinal and limb deformities. Penis, small testes. A small number of congenital heart disease.

3. Hand significantly abnormal patterns.

4. Severe mental retardation, IQ of more than 25%.

5. Karyotype: may be a simple lack of the short arm of chromosome 5, 5, dyeing and other chromosomal translocation, or ring chromosome 5 and so on.

Cat called syndrome - Causes

Causes chromosome breakage

Many environmental factors can lead to chromosome breakage. Exposure dose adhesives, paint; certain dose of X-rays, in general, the emergence of such a fracture



Meow syndrome

Is temporary and can be restored after a certain time, does not cause genetic problems. However, before and after pregnancy may harm the fetus. Another virus is a serious problem.





Chromosome aberration

Structural variation, including chromosome loss, duplication, inversion, and translocation of four types. Chromosome structural variation was first discovered in fruit flies. Geneticists have found that chromosome loss in 1917, 1919, found that chromosome duplication and chromosomal translocation found in 1923, 1926, found that chromosomal inversion. People in Drosophila larval salivary gland chromosomes, chromosome structure variation on a variety of detailed genetic studies.



The occurrence of chromosome structural variation is a common effect of internal and external results, a variety of external radiation, chemicals, and other dramatic changes in temperature, internal metabolic processes with biological disorders, and aging. The role of these factors, the chromosome breakage may occur, fracture healing and reconnection with the end of the ability. When the occurrence of different segments of chromosome breaks, in the same chromosome or on different chromosomes in different ways, re-connected, they will lead to the emergence of a variety of structural variation. The following description of each structural variation of the situation.



Missing

Missing is a section of chromosome together with loss of genes, causing variations in the phenomenon. If the missing section of chromosome arms in-house, known as the middle missing. If the missing section of one end of the chromosome is called the top missing. The lack of heterozygotes, because of missing chromosomes, and it can not complete the corresponding normal pairing of homologous chromosomes, so when the homologous chromosome associations, you can see the normal one chromosome for some more (top missing), or the formation of an arched structure (middle deletion), this normal section of extra chromosomes or a knot, the corresponding chromosome is missing some of the lost. With the lack of genetic effects caused by lack of fragment size and cells are different in different developmental stages. In individual development, the absence occurred sooner, the greater the effect, missing the larger fragments, on the more serious the impact of the individual, while in the individual caused the death, at worst affect the individual's life force. In human inheritance, chromosome deletion often cause more serious genetic diseases, such as a cat called syndrome



Repeat

Chromosome added to a section of the same mutation caused by the phenomenon called repetition. Complex in the re-fit, when the Association of homologous chromosomes, the duplication of duplication of chromosome segments, forming an arch structure, or a more than normal chromosomes. Than the genetic effects of repeated absence due to the small. However, if the repeated part of the great, will also affect the individual's life force, or even death caused by the individual. For example, the Drosophila eye by the normal oval rod into the eyes of the variation of X chromosome is the result of a repeated section.



Duplication of biological evolution have an important role. This is because the "redundant" genes may be more than the direction of the mutation; they would not damage the normal function of cells and individuals. Mutation of the end result, it is possible to make "extra" genes into a new function to carry the new gene, so as to adapt to the new environment, biology provided an opportunity. Therefore, in genetics tend to repeat as an important source of new genes.



Inversion

Chromosome was broken in two points, the results in three sections, the middle section of the 180 ° reverse occurred, and the other two sections re-bonding caused by variations in the phenomenon known as inversion. Inversion heterozygotes formed mostly abnormal gametes, thereby affecting the individual's fertility. Inversion homozygotes can not usually be the original kind of sexual reproduction among individuals, but this form of reproductive isolation, the evolution of new species, provides favorable conditions. For example, the common fruit fly chromosome No. 3 has three genes by scarlet eyes - Peach Eye - Triangle veins in the order of (St-P-Dl); the same three genes in fruit flies in another the order of St-Dl-P, only the inversion of the difference will constitute the difference between the two species.



Translocation

Chromosome translocation is a shift of a fragment of another non-homologous chromosomes received, causing the phenomenon of variation. If two non-homologous chromosomes exchange segments, called reciprocal translocation, this translocation more common. Reciprocal translocation of genetic effects is the production of some abnormal gametes, to reduce the fertility of gametes or produce offspring with genetic disease. For example, chronic myeloid leukemia, is the human chromosome 22 and chromosome 14 translocation caused. Translocation plays an important role in biological evolution. For example, in Section 29 of 17 species of seed plants, there are variations in type of translocation, straight fruit Mandala of nearly 100 varieties, is the result of chromosomal translocations.

Cat called Syndrome - nursing

For a cat named baby syndrome should be careful to take care of their parents:



Diet, a child growing up in a very important part, is the foundation of all other life activities. For children to eat well, grow strong, we must first understand the child's physical characteristics. TCM believes that children are "Yin Zhi Zhi Yang" of bodies, blood and body fluids that the child was not sufficient precision in vivo and visceral functions are not perfect or full without strong. In view of the physical characteristics of the child nursing emphasis spleen and stomach. Spleen and stomach is not about what to eat is a panacea, but is entirely in the daily diet. So, how diet nursed back to health then? Cat nursing baby syndrome called eight rules:

First, you have food festival

The ancients that "children to safety, subject to one-third of hunger and cold." Called the syndrome in cats infant child's diet, it is necessary to supply adequate nutrition, growth and development to meet the needs of the body, but also an appropriate amount. Such as excessive food intake, then not only may lead to excess nutrients, may also hurt the spleen and stomach, leading to digestion and absorption barriers.



Meow syndrome

Second, light food should not be a partial eclipse

Yi Shi light and easy to digest food. If you have accumulated a large number of gastrointestinal digestion of food can not be timely, Ji Zhi is not easy to produce stagnation of the pathology, and then will change into sputum, Sekihisa and of heat, phlegm in the body there will be a pathogenic factor. In addition, a cat named baby syndrome children eclipse should be given enough attention, because the eclipse is bound to nutrient supply is not comprehensive: some nutrition, but lack of some nutrients. This will make nutritional imbalance, leading to diseases affecting children's growth and development.

Third, food should warm

Meow baby syndrome children still in the developing spleen and stomach, stomach hi warm and wet winter and evil, must protect the spleen and stomach, we will have food to keep warm, eat less sweet food and cool ice cold meals.

Fourth, food should carefully slow, not rough-speed

Eating speed and digestion and absorption are closely related, so the good eating habits to develop chewing food thoroughly, so that food stays in the mouth longer, polished pieces of food can be bad cut some, the role of saliva more fully some. Baby syndrome cat called meal if devour their children, could easily lead to gastrointestinal disorders, indigestion, and even develop into a chronic nutritional disorders.

5, before food-handling, food and avoid static after

Generally speaking, people in the movement, mostly concentrated in the body of blood, muscle and other organs except in the stomach outside, so before meals is best not to do strenuous activities to prevent gastrointestinal location due to the lack of blood affect digestion. But after dinner, if sat motionless, would be forced to slow gastrointestinal activity caused the formation of food stuck in the gastrointestinal Ji Zhi. After dinner walk properly, can help gastrointestinal digestion and absorption, so the "take a walk after dinner, live to 99," said.

6, stomach good Tian Yu

Emotions affect food digestion. When angry, anxious, sad, afraid or scared, some people will nausea, vomiting, not eating phenomenon, which affects the digestive function is the emotional expression. And particularly before eating and emotional eating something delicious Hershey will have a lot of it after eating will be easier to digest. Therefore, before meals, after meals, parents do not criticize and even beats a child, the child would otherwise be damaged stomach.

7, food expensive and sometimes

Mainly that want to uphold the three meals a day, to regular meals. In this way, the baby cat called syndrome child at a certain time will have hunger, it will produce a large number of gastrointestinal digestive juice, eat the food Ershi a smooth digestion and absorption.

8, caution Medicine

Inappropriate medication may cause injury to the child's vitality. Sick children to drugs under the guidance of a doctor, can use natural medicine do not need chemicals; can use some kind of physical therapy can be therapeutic purposes, and do not need drug treatment; not to blindly seek more effective, for the children to eat a variety of different kind of medicine. In addition, children should carefully tonic. Today affluence, children less physical side virtual, partial and more realistic. If parents do not identify the child's current physical condition, blindly allowed to tonic, the result is often not only useless but harmful, so take particular caution. Child diet to restore the responsibility of parents, parents should carefully observe the child's appetite, mental state, sleep, and urine and other conditions, unusual and timely adjustment. Children before puberty, their behavior and ability are still in the stage of development is not mature, in eating, drinking problems can not haphazard, but should be under the guidance of their parents to eat and drink. Therefore, the parents control our child's diet is particularly important.

Cat called syndrome - special cases

Case 1



Case 1. Shanghai "cat called syndrome" case of first instance had set fruit in the Far East to stop pollution

Shanghai "cat called syndrome" case of first instance had set fruit in the Far East to stop pollution

China Court Network News on June 17, is so concerned about the "cat called syndrome" case finally fruit, Jinqiao, Pudong New Area People's court verdict, the defendant Shanghai CIMC Far East Container Co., Ltd. (hereinafter referred to as container companies) to stop implementation in the production process than the national standard emissions, dust and noise pollution violations; on the plaintiff's remaining claims Ms Zhao not support.

Ms Zhao, 27-year-old living in the "golden bridge for a King" district, the defendant company's production plant from the container Ms Zhao living quarters only 90 meters.

Ms Zhao plaintiff alleged that the defendants were engaged in the manufacture, repair, container companies, but the defendant in the spray Jizhuang Xiang Guo Cheng, Wei Cai Qu 任何 effective measures of protection and even open pit Pentu, emitting a Daliang of paint volatiles, Juyou strong pungent odor, intolerable. In 2003, Ms Zhao was pregnant, but because of strong contamination led to her pregnancy, fetal chromosomal abnormalities, visiting hospitals, doctors told Ms Zhao, the fetus after birth is likely to suffer from "cat called syndrome", which is a chromosome arm deformity, the rate was one hundred thousandth, both at home and abroad are rare. Children generally showed growth retardation, congenital anomalies of the central head, crying peculiar characteristics, and have mental retardation, and its most obvious feature is crying like a cat call, but currently there is no ideal treatment. Finally Miss Zhao had to under the doctor's advice, in the first 23 weeks of pregnancy termination of pregnancy.

Ms Zhao that, in residential communities have repeatedly requested the defendant to take the necessary protective measures to prevent the production process of the dissemination of volatile gases, but the defendants ignored, Gu Qing Qiu Qin Hai decree the defendants stop this behavior, 排除 prevent and eliminate risk, and assume case costs. Trial, the plaintiff claims increase, the accused long-term large-scale emissions of benzene, toluene and other toxic substances cause fetal abnormalities and Yuan Gao grounds for abortion, ruling the defendant requested the plaintiff compensation for total loss of physical and mental RMB 8.7 million yuan.

The defendant argued that container companies, the defendants in the emissions from the production process, noise, dust emissions do not cause environmental pollution; plaintiff chromosome inspection reports provided by the amniotic fluid, the testing agencies do not actually have the qualification test, and the report recommended the plaintiff only clinical follow-up, so the plaintiffs claimed the results of fetal harm is not established; defendant emissions from the production process, noise, dust emissions and the plaintiff claims "lack of fetal short arm of chromosome V," there is no causal relationship between.

December 9, 2004, the court dispute between the two sides "of fetal chromosomal causal relationship" to the Chinese Academy of Sciences Shanghai Consulting Center for investigation and Novelty, novelty issued by the Advisory Centre conclusion: the "benzene, toluene, xylene and the fetus short arm of chromosome 5 deletion of causal relations "of research, at home and abroad have not been reported.

After the court hearing that case the defendant in its container production and drying process, the distribution of benzene, toluene, xylene, dust, noise transmission are harmful substances that prevent certain human beings exist in the possibility of damage, as an living quarters are close neighbors emissions production enterprises in production should strictly abide by relevant standards on pollutant emissions, to minimize the emission of pollutants, but in 2003, 2004, the monitoring of environmental monitoring department China, were found toluene, xylene emission concentration and emission rate exceeding, their behavior has violated environmental laws and regulations of the prohibitive provisions of an act of environmental pollution on the plaintiff where the district resulted in a normal living environment and to the residents against the Healthy Living as a threat, so the plaintiff asked the defendant's request to stop pollution violations, has factual basis and legal basis, according to the law can be supported.

Secondly, the provisions of Law on environmental pollution liability for the injury caused by environmental pollution should be consistent with the behavior of environmental damage caused by the fact that objective, the behavior of environmental pollution and damage to the fact that a causal relationship between the conditions. According to rules of evidence, the defendant should act and the damage of pollution there is no causal relationship between the results of the burden of proof, but only if the polluter and the damage should exist between the results on the causation of epidemic disease. But the present case, that the defendants discharged plaintiff virulence may lead to the results of virulence factors of benzene, toluene, xylene, dust, virulence mechanisms of these substances do not include loss caused by the short arm of chromosome V, and the original defendant Report on Checking the technology provided, expert advice and the existing scientific knowledge, also does not include damage caused by the possibility of the existence between the two is clearly described, so the court held that the plaintiff claims virulence results between virulence factors and epidemiology causality was not established, lead to the premise of the case burden of proof is not reached, not presumed the defendant's discharge behavior and the damage the plaintiff claims a causal relationship between the results, so the Court of Claims by the plaintiff were not supported.



Case 2

Xinjiang's first case of a child crying baby meow like a cat syndrome called 2008-01-13 01:052 9 Xinhua

Two days ago, she felt holding 3-month daughter, sadly, the people from the regional hospital for the discharge procedure, her child suffering from a rare syndrome called cat. Genetics experts say that the most significant disease symptoms is called the child's crying like a cat the same. The incidence of this disease was 1/50000, found that since 1963, only 200 cases reported at home and abroad, China has recorded only 20 cases, while the disease was first discovered in Xinjiang. In mid-January, she felt the daughter of repeated coughing due to asthma was admitted to the hospital accompanied Neonatology.

A medical examination revealed little guy with the normal newborn body are significant differences in addition to hair thinning, eye away from the wide, double-thumb adduction deformity, limbs and poor muscle tone, children also suffer from congenital heart disease congenital atrial septal defect and brain development bad. Li Long, director of newborn found that Gul's daughter than the other kids cry, but crying like a cat called the same, so the initial suspicion of congenital genetic disease called cat syndrome. After cytogenetic examination, the child was diagnosed with a cat called syndrome. That the child's illness, but also heard that there is no ideal treatment, she felt very sad and her husband, the doctor asked about family history have not had time, she felt gave the child go through the discharge procedures.

Lee Long said: "The disease of newborns suffering from this chromosome will usually die soon after birth of respiratory tract infections and congenital heart disease." Upon maternity room doctors LEE Wing Yi Chuan Chan introduced a cat called syndrome is the human part of the fifth chromosome deletion of the genetic disease. As the throat muscles stunted children crying so light, high pitched like a cat named named. General performance for the two patients with a longer distance, down the ramp outside the corner of the eye, nose low, flat, low-set ears, small jaw, growth retardation, cry strange, etc., and there is a serious mental disorder. 50% of children with this disease associated with congenital heart disease, usually in infants, early childhood on mortality, few live to adulthood, most cases from mutations, a few from the parents, family history of disease was 15% . Source: Chenbao



Case 3

Cat called Syndrome August 7, 2007 Tuesday 19:43

26-year-old Li as a somewhat strange reason, wanted me for her consultation. Two weeks ago she asked plumber repair pipe, then had the birth of her baby was 8 weeks. When the foreman of her kitchen drain repair, the supervisor asked her if she got a new kitten. She initially was angry because the foreman heard the cries of her baby. However, after two weeks, she began to focus increasing attention on the baby's crying, she found that crying really sounds like a cat. Was fed to the kids is extremely difficult, so she decided to call the doctor.

This is the second time her pregnancy, the first 3 months of pregnancy than abortion. Both families do not have family history of genetic disease. When I check the kids, I found him underweight. His crying did exactly like mew. In addition, his round face is unique: a small lower jaw, distance between eyes wide. Development of poor nutrition, pale. The little finger of each hand are a little curved inward. Can hear the heart murmur.

The child chromosome analysis, I regret to have to make a cat called syndrome (cri-du-chat syndrome) diagnosis. And the prognosis is severe mental retardation and physical stunting. Child eventually died of heart and respiratory problems and died.

By Li couples chromosome analysis showed that Li is a child caused the disease factors: Lai chromosome karyotype of a short arm of chromosome 5 are missing, and the same child; may be missing chromosome, resulting in the missing parts of Korea are still cells, but not to their children. Li's parents and sister chromosomes are normal.

Chromosome breakage reasons:

Many environmental factors can lead to chromosome breakage. Exposure dose adhesives, paint; certain dose of X-rays, in general, the emergence of such a fault is temporary and can be restored after a certain time, does not cause genetic problems. However, before and after pregnancy may harm the fetus. Another virus is a serious problem.

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