Chapter 804 Is it a chromosomal disease?(1/2)
Chromosome-related diseases were not taken seriously in 1990.
Especially in China, medical universities have not even carried out relevant teaching work and are in a comprehensive backward state. This is mainly related to the lack of testing institutions.
Like Chen Qi, every time he suspected something was wrong with his genes, he had to send specimens abroad for testing.
In 1990, domestic scientific research institutions were already carrying out genetic work, but unfortunately it was not open to civilian use, and the cost of testing was very high.
Abnormal transchromosomes are a disease that is difficult to describe and indeed difficult to diagnose.
Diagnosis is difficult because genetic testing technology must be used. Even decades later, this technology will still be a complex project and cost a lot of money.
Typical chromosomal diseases are easy to say, but for some more complex rare diseases, you don’t know which chromosome is faulty, so you need to do a full-lineage test, which is as difficult as finding a needle in a haystack.
But to say that chromosomal diseases are simple, it is also simple, because patients with chromosomal diseases often have special appearances or disabilities, and experienced doctors can tell that the child is sick at a glance.
For example, Trisomy 21 syndrome has obvious symptoms such as mental retardation, growth and development disorders, and multiple malformations, such as small eye slits, widely spaced eyes, short neck, and dull expression.
Trisomy 18: Also known as Edwards syndrome, it is caused by an abnormality in chromosome 18 and manifests as harelips, a small head, and the tip of the nose pointing upward.
Trisomy 13 is often accompanied by obvious craniofacial malformations, including microcephaly, abnormal forehead, forebrain development, small eyeballs, wide and flat nose, cleft upper lip, cleft palate, auricle deformity, etc.
Turner syndrome is a common female sex chromosome abnormality, characterized by short stature, webbed neck, low posterior hairline, wide breast distance, cubital valgus, etc.
Including the previous Klinefelter syndrome in Pingleshan, why Chen Qi could see at a glance that this kind of patient is obviously tall and heroic but has no masculinity, has a fair face and is a bit effeminate.
So Chen Qi looked at the little baby in front of him who cried like a kitten, and then looked at the test report saying that chromosome 21 was normal, and he was obviously not convinced.
"No, no, there is no way this child is without problems."
The child's father, Wang Xingping, was unhappy. No parent would be happy if they said their child was a fool.
If Chen Qi hadn't been the dean, Wang Xingping would have given him some competitions.
"Dean Chen, you said before that my son has chromosome 21 abnormality, that he is a Tang baby, and that he is a salty baby. You said you would spend 20,000 yuan and we also spent it. Now the results are good.
Isn’t this a good thing?”
The Wang family borrowed 20,000 yuan from relatives, which made them extremely distressed.
The patient's mentality is like this. After an examination, the disease must be found out, otherwise the doctor is wasting the patient's money, which is very easy to cause doctor-patient disputes.
Chen Qi felt unhappy when he heard the parents' rebuttal, but compared to his own discomfort, he wanted to know what disease the child had.
"Well, let's not talk about anything else. I will do a heart ultrasound on the child myself. Children with chromosomal abnormalities are often accompanied by congenital heart disease."
Wang Xingping asked warily: "Are we going to have to check again? How much will it cost? I don't have any more."
Chen Qi was very speechless: "I don't want you to spend money, I will do it for you for free."
"That's about the same, little girl. Others spend hundreds of dollars to give birth to a baby, but we spent more than 20,000 yuan. We really lost money."
Chen Qi took the baby out of the intensive care unit and put it on the hospital bed. He also took out a portable bedside color ultrasound machine from the space and examined the baby carefully.
Director of Pediatrics Liu Shumin also followed, wanting to see what unique achievements this amazing dean had made in pediatrics.
As long as one more rare disease is discovered, the spring of pediatrics will come, and research can be carried out.
Ten minutes later, Chen Qi slapped his thigh and shouted:
"Look, here, there is a defect in the ventricular septum, and there is also a problem with the ductus arteriosus. This child has obvious congenital heart disease. My guess is correct, there must be something wrong with this child."
The baby on the hospital bed started crying again because he couldn't stand the B-ultrasound probe:
"Meow~~meow~~~"
The voice was very soft, just like the cry of a newborn kitten.
Chen Qi pursed his lips, held his chin in his hand, and looked at the screenshot of the heart on the screen, trying to recall what kind of genetic conflict this might be.
At this time, Director Liu Shumin suddenly asked:
"Dean Chen, what's wrong with you? What's wrong with this child?"
Chen Qi wanted to laugh every time he heard Liu Shumin's accent, "Director Liu, your accent doesn't sound like a southerner. Where are you from?"
Director Liu Shumin thought that the dean was trying to make things happen, so she smiled and said, "I'm from the north, from Jinzhou."
"Jinzhou, it's not far from Tangshan. No wonder the accent is so similar to that of Teacher Zhao Lirong. One hundred and eighty glasses of palace jade liquor. How do you like this wine? Let me blow it for you~~~hehehe~~~"
Chen Qi thought of the sketch "Adventures at Work" and started to amuse himself.
However, Liu Shumin had no idea what Dean Chen was laughing at. Just to avoid being left in the cold, she still smiled and said:
"Not only is it close to Tangshan, our place is also very close to Shenyang. That little barbecue is so delicious..."
Chen Qi suddenly had an idea in his mind: "Wait a minute, Shenyang? Shengjing Hospital? I remembered it, haha, I probably know what's wrong with this little baby."
Liu Shumin was happily introducing her hometown when suddenly the director's thoughts jumped to Shengjing Hospital. The old lady felt that she was really old and could not keep up with the young people's thoughts.
"Dean Chen, how does this have anything to do with Shengjing Hospital again?"
Chen Qi looked at the little baby meowing and screaming on the hospital bed, and his mind recalled the time he went to an academic conference with his tutor when he was studying for a PhD in his previous life.
At that meeting, doctors from Shenyang Shengjing Hospital introduced a newly discovered case in their hospital.
It was a young man in his 20s. While he was in the hospital, the doctor on duty discovered that the patient's snoring sound was the same as a cat's meowing while sleeping.
This aroused the great interest of the doctor on duty, so he looked through all the magazines and information, and finally diagnosed it as "cat meowing syndrome".
Unfortunately, in his previous life, Chen Qi was studying for a Ph.D. in hepatobiliary surgery and had little interest in lectures in other disciplines, so he listened to the lectures while playing on his mobile phone. At most, he was half-listened to it.
Now Chen Qi regrets that he should not have been half-hearted. How could he use his mobile phone while attending a meeting?
"Director Liu, I roughly know what the disease is, but I just can't determine which group of chromosomes has the problem. Anyway, it's single digits. Is it chromosome 5 or chromosome 7? Oh, let me think about it.
Think about it.”
Director Liu was stunned. How come he just mentioned a hometown and the dean solved the case?
"Dean Chen, what is cat meowing syndrome? You can't just say that a baby has cat meowing syndrome just because he meows, right? The name doesn't sound serious."
The other syndromes have very nice names.
Ménière's syndrome, Eisenmenger syndrome, Marfan syndrome, Budd-Chiari syndrome, etc. This sounds very high-end, but it doesn't look like "cat meowing syndrome" with such a name.
Casual?
"Whatever? That's better than those idiots over there who are looking at you and looking at you."
Director Liu quit: "Dean, you are talking nonsense. That is Northeastern dialect, not our Jinzhou dialect. Our Jinzhou dialect all has an upturned ending~~~"
Chen Qi did not continue to tell Liu Shumin about the sketch. He hurried to the office and made an international long distance call.
Only the dean's office in the hospital can make international long-distance calls, which is much more advanced than a few years ago. At that time, Chen Qi had to go to the Post and Telecommunications Bureau Telecommunications Building to queue up to make international long-distance calls.
"Hey, is this Sysmex? I'm looking for your Chairman Yuuto Takada."
"Hello sir, our President Takada went to China on a business trip yesterday. If you have any questions, please leave a message and I will help convey it."
Takada Yuuto came to China? Chen Qi was quite speechless. This is too unfortunate.
"Okay, Mr. Takada won't be here if he's not here. I'm Chen Qi from China. I want you to test a few chromosomes for me. I..."
Before Chen Qi finished speaking, there was a knock on the office door. He Jia opened the door, and Chen Qi saw a smiling Yuuto Takada appearing at the door.
Chen Qi hung up the phone directly and said in surprise:
"This really means that Cao Cao and Cao Cao are here. I'm calling your Sysmex company to find you. Why did you come to China without notifying me in advance?"
Yuuto Takada bowed when he entered the door:
"Chen Sang, it seems that we have a good understanding, haha."
"Sit, sit, sit, He Jia, serve tea, serve good tea!"
Chen Qi likes the boss of Sysmex Company very much. In the past few years, he has given Yuezhong Hospital several big discounts on genetic testing alone, adding up to at least hundreds of thousands of dollars in discounts.
Faced with such a big benefactor, it would not be a bad idea to go directly to the top Longjing.
The two parties introduced each other's entourage and chatted for a long time before turning to the topic.
"Mr. Takada, are you coming to Vietnam this time for tourism or business?"
Secretary Takada Yuto took several documents in his hand and said:
"Chen Sang, these are several genetic testing reports that your Yue Traditional Chinese Medicine Hospital has made at our Sysmex company in recent times. This is the final text. In addition, our company has no comments on the Chimera phenomenon and the doublet that you are currently studying.
I am very interested in the topic of human sexuality, and I wonder if we can cooperate?"
Chen Qi thought to himself that these Japanese noses were really smart.
The papers on "Shen Jianjun's Chimera Phenomenon" and "Liu Chunjiao's Intersex Person" have not been published yet, so the Japanese are following them?
I guess you have keenly sensed the huge academic value of these two topics and the sensation after they were published. Do you want to get a share of the pie?
Chen Qi smiled awkwardly: "Come, Mr. Takada, please have tea..."
As soon as Takada Yuto saw Chen Qi's expression, he knew that the Huaguo dean and the young international co-director were not willing to share the results, so he said sincerely:
"Chen Sang, we are all old friends. As long as our Sysmex company can participate in these research groups, you can ask for anything. Maybe we can sponsor all the funds."
Chen Qi, or rather, the Yuezhong Hospital is indeed short of money. Who dares to say that he has more money than he can spend? As soon as the new hospital was completed, money was flowing like water.
But Chen Qi is not short of funding for these research groups. After all, labor costs in China are almost free, and can be spent for tens of dollars a month. This saves a lot of money.
To be continued...