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What is the deafness gene?
The reason why each of us is born different is determined by heredity, and the material that determines heredity is genes.
Hereditary deafness is caused by a problem with the genes that control hearing. Congenital deafness, in addition to half of the related to perinatal infection, neonatal jaundice, ischemic-hypoxic encephalopathy and other diseases, the other half is mainly related to heredity, that is, there is a problem with the deafness gene.
Who needs to be screened?
One of the spouses is deaf, or there is congenital deafness in the family. 2. Couples who have given birth to a deaf child and plan to give birth again. 3. When deaf young people are faced with marriage and love, they want to give birth to deaf children at a high cost.
4. Deaf patients want to know more about their deafness. 5. Normal couples want to conduct deafness risk assessment for their newborns.
What are the signs that our hearing is declining?
In fact, there are many deafness, so it is important to understand the causes of hearing loss in the ear and do a good job in preventing hearing loss.
Acoustic impairmentCan cause sensorineural hearing loss. It is usually due to the inner ear suddenly suffering from loud noises or prolonged exposure to high-frequency noise.
Senile hearing lossHearing loss due to increasing age <>
Unexplained tinnitus. In daily life, there is long-term or persistent tinnitus, especially tinnitus at night. When chatting with friends or family members, exclude the fact that the other person is slurring his speech, and often cannot hear or understand what the other person is saying. <>
When our hearing decreases for a long time, our voice will also improve, and it is no problem in daily communication, but we can't hear clearly after a dozen **.
When we find that we have the above problems, it means that we have hearing loss, and we need to go to the hospital in time to determine the level and nature of hearing loss, and then carry out targeted treatment.
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The first point is that when you feel that you are listening to things, it is a decrease in hearing, the second point is that you feel that you are always ringing in the ears, which is likely to cause deafness, and the third point is that if you feel that others are very close when they are talking and you can't hear the words clearly, it must be that the hearing is declining.
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By collecting a small amount of blood and performing genetic testing, it can be determined whether the person being tested carries a mutation in the gene that causes deafness.
Symptoms of early hearing loss include:
high-pitched, intractable tinnitus;
Difficulty concentrating, speaking loudly, often asking for louder volume when watching TV or listening to the radio;
tinnitus accompanied by a feeling of vertigo;
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Deafness genes can be tested by taking a small amount of ** or a small amount of blood and hair tissue. Unexplained dizziness, headache; Speak loudly, but you can't hear it; Turn up the volume of your TV or radio so loudly that you can't hear it.
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Compared with hearing examination, X-ray, CT and other imaging examinations, the diagnosis of deafness gene has stronger pertinence and specificity, and it is convenient to collect materials and has a wide range of applications. When talking, you like to interrupt or answer questions that are not asked: The symptoms of hearing loss are more obvious, and you will not hear clearly when communicating with other people normally, so when you ask questions, you may often answer questions that are not asked, indicating hearing loss.
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Genetic screening for deafness only requires a small amount of blood or a small amount of hair and other tissues to be tested. Hearing loss is accompanied by symptoms of tinnitus, which can be preceded by hearing loss. For example, the TV or the voice of the speech is loud but you can't hear it clearly, etc.
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Hearing loss usually does not cause deafness slowly. There are many causes of deafness, and the first thing to do is to identify the cause of hearing loss.
Hearing loss is generally considered to be related to a variety of factors such as overwork, staying up late on fire, prolonged exposure to noise, otitis media, tympanic membrane perforation, and sudden neurological hearing loss. If it is a short-term hearing loss, oral drugs to improve the blood supply to the inner ear and nutritional nerve drugs can be used, and the conditioning time will generally gradually recover.
If hearing loss is caused by sudden neurological hearing loss, early systems** are needed to maximize hearing recovery. The best period for sudden neural deafness is within one week of the onset of the disease, and the longer the course of the disease, the worse the effect. If hearing loss is severe and prolonged, hearing aids may be worn if necessary**.
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There are many causes of hearing loss, such as disease, trauma, and poisoning, which can lead to hearing impairment, and if you don't pay attention to it and take it in time, you may lose your hearing forever. Experts especially point out that hearing loss is one of the symptoms of deafness, and if there is long-term hearing loss, it is necessary to go to the hospital for examination in time to prevent sudden deafness. Hope mine can help you.
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If you can't communicate at a normal volume in a quiet environment, and you can't hear clearly or can't hear, you have hearing loss, and if you want to check the extent of the loss, you need to go to a hospital or hearing aid store for a checkup.
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There are many kinds of examination methods for deafness, such as the more traditional tuning fork test and the commonly used deafness gene testing, mainly through blood sampling for testing, as well as pure tone audiometry, acoustic impedance, otoacoustic emission examination, otoendoscopy, brainstem evoked potential examination and middle ear CT or MRI, and then vestibular function testing, the above examinations need to be selected according to the specific situation of the patient, according to the results of the examination, the comprehensive judgment of the patient's deafness, so as to further symptomatic **. If the patient is deaf in life, he must be examined in time and at the same time seize the time to treat the symptoms**. The patient's deafness will improve, so you must have a reasonable schedule and rest, don't stay up late, and pay attention to protecting your ears.
For the diagnosis of deafness, first of all, the patient's subjective sensation should be based on whether the hearing loss is felt or accompanied by tinnitus and ear stuffiness. After that, we will go further to the hospital for a detailed diagnosis of deafness. The most common is the tuning fork experiment.
If it is necessary to specifically determine the degree of deafness, i.e., the degree of hearing loss, further pure-tone audiometry is required. In addition to subjective examination, objective examination methods such as brainstem evoked potentials and otoacoustic emission can be used as examination methods for deafness. The methods for diagnosing deafness are as follows:
First, the assessment is based on the patient's clinical symptoms. This is because deaf patients will have mild hearing loss, some patients will have one ear, and some patients will have mild hearing loss in both ears.
Second, through the audiological test for judgment, the more commonly used detection methods include tuning fork test, pure tone audiometry and other subjective tests, and objective audiometry to identify pseudodeafness, according to the examination results, combined with the clinical experience of doctors, the type and degree of deafness can be comprehensively judged.
Third, the judgment is based on imaging examinations. When deaf patients undergo CT imaging of the ear, they can find out whether there is a deformity of the ear bone structure, and if necessary, it can be combined with MRI of the brain or inner ear to assist in the examination.
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Common genes for deafness include the GJB2 gene, which can cause severe or very severe sensorineural hearing loss.
Mutations in the PDS gene, the protein encoded by the protein involved in regulating the ionic balance of lymph fluid in the cochlea, can produce great vestibular aqueduct syndrome or Pendred syndrome.
The MT-RNR1 gene, which encodes a protein that is mainly involved in aerobic phosphorylation, will cause patients to be sensitive to aminoglycosides, resulting in drug-induced deafness.
The otof gene, which encodes a protein whose main function is expressed in the inner hair cells of the cochlea, is involved in the process of vesicle fusion during the secretion of neurotransmitter vesicles at synapses.
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Deafness gene testing is to detect the presence of deafness gene mutation sites by testing human DNA. For family members with congenital deafness, it has a good preventive significance for the recurrence of deafness. Lesions occur in the auditory nerve and centers at all levels in the auditory system in the sound transmission, sensory and auditory conduction pathways, resulting in auditory dysfunction and varying degrees of hearing loss, which is collectively referred to as deafness.
The causes of deafness are mainly divided into genetic factors and environmental factors. Hearing impairment** studies have shown that about 60% of deafness patients worldwide are related to genetic factors. According to the presence or absence of conditions with other organs, it is divided into syndromic and nonsyndromic deafness.
According to the inheritance mode of nonsyndromic deafness, it can be divided into autosomal dominant inheritance, autosomal recessive inheritance, X-linked and mitochondrial maternal inheritance. Hereditary deafness not only affects the patient itself, but can also be passed on to future generations, like a hidden killer passed down from generation to generation in the human community. In children with hereditary deafness, the root cause of the disease lies with the parent with the genetic defect.
It is the genes of the parents that are passed on to the child and cause the disease. But a parent's hearing can be normal or abnormal.
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This is more common and can also be caused by colds.
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This requires a detailed examination, and it is recommended to go to the hospital for genetic screening.
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Why hearing loss occurs in deafness.
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A 3-year-old girl, An An, is suddenly deaf, and a 4-year-old boy, Youyou, is born with hearing impairment, but their parents have normal hearing, why is this? Xu Quanzhen, vice president of Taichung Tzu Chi Hospital, said that according to domestic and foreign statistics, 3 out of 1,000 newborn attendants had moderate hearing loss in both ears; Sixty percent of children's hearing loss is genetic. At present, to confirm the cause of hearing loss in children, deafness genetic testing can be used, and artificial reproductive technology can be combined to make fetal implantation 100% normal, which has become a new weapon in medicine.
An An, a 32-week premature baby, was diagnosed with moderate hearing impairment at the age of 2 months, and suffered sudden deafness due to repeated infections in March last year. The results of genetic screening showed that the family's hearing was normal, and it was confirmed that An An's hearing loss was caused by the incomplete development of the congenital inner ear structure. Yuyu was found to have hearing loss during the newborn hearing screening, and after genetic testing, the parents determined that Yuyou was caused by the recessive inheritance of the two.
After the age of 1, Yuyu underwent electronic ear surgery and listening** training, and his oral conversation and comprehension skills are currently maintained at a certain level. Xu Quanzhen revealed that the common deafness gene mutation is recessive, and if both parents are gene mutation carriers, the probability of hearing loss in the next generation is one in four. According to the study, there are more than 130 genes related to deafness, and at present, Taichung Tzu Chi Hospital and the Department of Otolaryngology and Genetic Medicine of National Taiwan University Hospital are cooperating to conduct deafness gene screening.
In the prenatal period, techniques such as amniocentesis and chorionic sampling can be combined to diagnose the deafness gene of the fetus in the womb and provide familial genetic counseling. At present, deafness gene testing can also be combined with artificial reproductive technology, which is completed before embryo implantation, and the normal embryo is implanted into the uterus, so that the implanted fetus is 100% normal. Subscribe to the [Healthy Love Lohas] video and audio channel to read health knowledge more easily Join [] and pay attention to your health every day!
Line ID:@ Supply Article 20542 Genetic testing for hearing loss in children to identify the cause Keywords: sudden deafness, Tzu Chi Hospital, Xu Quanzhen, Hearing, H,
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Neurogenic deafness refers to the lesions of the auditory nerve of the inner ear and the source auditory center of the brain, which causes hearing loss and even hearing loss, often accompanied by whining. Modern medicine can't for the time being. Neural hearing loss can occur for several reasons:
Neurological deafness caused by drug poisoning caused by continuous use of antibiotics such as streptomycin, kanamycin, gentamicin, etc. Sudden deafness caused by a disease-retarded infection or embolism of the blood vessels in the inner ear. Infectious deafness caused by infectious diseases such as meningitis, measles, typhoid, etc.
Deafness caused by trauma or knocking, noise, etc. Traditional Chinese medicine believes that the ear is the orificum of the kidney, which is perfused by the 102 meridians and leads to the brain. Its pathogenesis can include wind and heat invasion, liver fire disturbance, phlegm and fire stagnation, kidney essence loss, spleen and stomach weakness and so on.
The main clinical manifestations are hearing impairment, loss or even disappearance, and children often feel cicadas or other sounds in their ears, which is more obvious in a quiet environment. It can be accompanied by a variety of systemic symptoms such as fever, headache, irritability, abdominal distension, backache and fatigue.
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Deafness is a condition in which hearing drops in one or both ears at the same time. If this happens, it is recommended that the patient must go to the hospital in time for pure tone audiometry and acoustic impedance testing, through which the nature of deafness can be determined, and the doctor will also observe the condition of the eardrum.
The main symptoms of hypertension are headache, dizziness, dizziness, and swelling, and in severe cases, it can be manifested as wheezing, dyspnea, edema, visual impairment, nausea and vomiting, oliguria, chest pain, and numbness of the limbs.
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