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Chapter 0286 Genetic testing

 The next day, Wei Danian was completely out of danger.

The blood pH value returned to the normal range, 7.40; blood lactate also dropped to the normal range, 1.0mmol/l, and other electrolytes, potassium, sodium, chloride, and calcium, returned to the normal range.

As long as the acid-base imbalance and electrolyte imbalance are corrected and the patient returns to a stable internal environment, his life will be out of danger.

The internal environment of human cells, just like the living environment of human beings, must be maintained within certain parameters, otherwise survival will be threatened.

Wei Danian's tracheal intubation was successfully removed, but for safety reasons, he still needs to be monitored in the ICU for one day before being transferred to the general ward.

In the ICU ward, there were all seriously ill patients, and patients who could not be rescued died at any time. Wei Danian could only lie on the bed, with various tubes and circuits connected to his body. Naturally, he was frightened. He shouted to be discharged from the hospital.

Yell.

The doctors and nurses kept trying to persuade him, but a twenty-five-year-old man was just like a child, unwilling to give up. There was nothing he could do, so Dr. An contacted Dr. Jin and planned to transfer him to the orthopedic trauma department.

But before the call was hung up, Wei Danian fell asleep again, snoring like thunder, snoring for a while. Suddenly, there was no movement again. The ECG monitor actually showed that breathing had stopped. Dr. An quickly leaned close to his nose to listen to his breathing. He was really breathing.

After stopping for a moment, Wei Danian opened his eyes, glanced vaguely for a few times, snored loudly again, and resumed his breathing.

Obstructive sleep apnea-hypopnea syndrome is a rare disease. This disease is common in obese men. Often at night, the upper airway collapses and blocks, causing apnea. Then the patient wakes up and breathing resumes.

"Write down the course of the disease. After you are transferred to the orthopedics department, it is recommended to seek consultation from the respiratory department and do sleep breathing monitoring." Dr. An ordered the doctor around him.

Dr. Jin asked Wei Danian's parents in detail about the number of attacks each year and the specific months, and drew a statistical chart. According to the statistical rules shown in the statistical chart, there will be no attacks within three months.

Before the internal laws are found, this surface law can also play a role in predicting the disease. It can at least provide guidance to patients as to which season and month of the year are the most dangerous.

Dr. Jin will report the results of Wei Danian's examination in the group once a day, allowing everyone to analyze and discuss the next step of examination.

The blood sugar is controlled very well, and the increase in blood lactic acid caused by diabetes can be ruled out. According to the test results, acquired diseases are also ruled out one by one. Everyone focuses on hereditary diseases. Although they have been checked in other hospitals, it is very effective to check again.

Necessary.

Wei Danian's parents agreed to investigate the cause of the disease, and the doctors were so enthusiastic that they were of course willing to cooperate. For such an only son, he was worried every day. If the cause of the disease could be found out and treated accordingly, it might be possible to cure it.

This tight curse.

"Can you contact the genetic laboratory of Nandu Medical University for gene sequencing?" Yang Ping suggested Dr. Jin.

When considering hereditary diseases, it is necessary to conduct gene sequencing to find the causes at the genetic level. We also need to investigate family medical history and draw family genetic pedigrees.

"Contacting the genetic laboratory of Nandu Medical University? It's a bit difficult!" Dr. Jin responded.

"I'll contact you!" Yang Ping responded.

"There is a problem with the conversion of pyruvate, an enzyme defect or abnormal function of the mitochondria, the base camp for processing lactic acid, which can only be clarified by genetic sequencing." Yang Ping analyzed.

"Congenital lactic acidosis is a lack of enzyme structure or activity that converts pyruvate. It was first reported by Hartmann et al. in 1962. It is transmitted in an X-linked inheritance manner. The mutated gene is on Xpz. Patients generally have developmental delays in intelligence and motor function.

There are also hepatomegaly, heart enlargement, cataracts, etc. It is recommended to use an intelligence test scale to test intelligence and evaluate motor function. It is strange that this patient does not have hepatomegaly, no cataracts, and the size of the heart matches the body shape." A doctor of endocrinology.

opinions.

The best way to contact Nandu Medical University was to find Su Nanchen. Yang Ping contacted Su Nanchen on WeChat, explained his thoughts, and sent him the medical records. Su Nanchen was very interested and immediately recommended a young female doctor from the genetic laboratory of Nandu Medical University -

--Wen Yulin.

The Internet era is very efficient. Soon, Su Nanchen and Dr. Wen were pulled into the group. Dr. Jin re-sent Wei Danian's information so that they could see it, and also sent the screenshot of the discussion just now to the group.

Keep them informed of the progress of the discussion.

Dr. Wen was very interested in the case and responded quickly: "Our laboratory can test gene fragments and detect whether there is a mutation in Xpz."

"How to collect and store specimens? Do you need ethical approval? Also, what is the cost?"

Discussions in the group started to flood the screen like snowflakes. The discussion has been upgraded from clinical to genetic testing, and everyone is extremely excited.

This is a challenging collaboration. Clinicians and basic medical researchers rarely interact with each other. When doctors are studying and doing graduate studies, they may also interact with basic medical researchers. Once they enter clinical practice, they will never interact with each other.

"I will send you detailed specimen collection and ethical procedures later---" Dr. Wen is very positive.

From the clinical symptoms of a patient, we followed the clues and gradually deepened into the level of genetic testing, connecting all kinds of knowledge that are usually isolated.

This is definitely not an ordinary case. Yang Ping has a vague feeling that this case will create a new diagnostic model, and it is very likely to find an unknown disease.

Because none of the existing known diseases can match Wei Danian's condition.

Medicine requires a group of people full of passion and courage to challenge the unknown. There is no paranoia or madness, and it is difficult to move forward on the road of overcoming obstacles.

As the Spring Festival approaches, the festive atmosphere is getting stronger and stronger. The hospital has also begun to hang red lanterns in advance. Hospital leaders inspect various departments and make repeated orders to arrange the holiday shifts to ensure medical safety during the holidays.

Usually at this time, everyone is discussing the Spring Festival holiday or grabbing tickets, but the doctors and nurses are very calm, because no one is on vacation, so there is no such thing.

Zhang Lin laid out the duty schedule for everyone to review. If there is no special matter, this schedule will be implemented during the Spring Festival.

---

Luo Jin participated in the recording of a hospital promotional video and a comprehensive orthopedic documentary. The TV station specially added an episode to him to record his injury, surgery and recovery process.

Hermes was discharged from the hospital and continued treatment in the outpatient clinic. The camel was so thin that it was bigger than a horse. He sold a house near the hospital, a duplex house of more than 200 square meters, and received more than 10 million in cash after the sale.
This guy is very financially savvy. He used cash to buy a 140-square-meter house for himself to live in near the hospital. With the remaining 4 million in cash, he bought a small house near Nandu High-speed Railway Station.

After investing in a house, I still have one million in cash in my hand, which I use to treat illnesses and look for opportunities to make a comeback.

With this operation, although the house has become smaller, you still have a house, cash, and a small house that can appreciate in value.

When Hermès was hospitalized, it was at the peak of price increases in the community next to the hospital. Unexpectedly, now that he had taken action, he not only earned back his medical expenses, but also made a lot of money.

Fortunately, Hermès only went bankrupt, and other worries, such as going to jail, have not happened yet.

I just heard that he was bankrupt and in danger of going to jail. All those relatives and friends lost contact with Hermès, including relatives who often received financial aid from Hermès.

The rich live in the mountains with distant relatives, but the poor live in the busy city with no one to care about.

In the past, although he went to G City to seek medical treatment, his relatives and friends kept calling him to express condolences. There were messages of concern on WeChat from time to time, and people often sent various valuable medicinal materials to the hospital.

Now, overnight, it seems that the mobile phone has been disconnected, and there are no calls at all. It is surprisingly quiet. Occasionally, Hermès wants to inquire about information, calls relatives and friends, and sends WeChat messages, but there is no response, and some are simply blocked.

After this incident, the eldest brother went to the oncology department again and gained a deeper understanding of life. He no longer struggled with the huge gap and faced life calmly.

As Yang Ping told him: "There are no obvious abnormalities on these checklists, which is your greatest happiness."

Hermès bought a good set of stereos. Every day when he had nothing to do, he asked his wife to push him to the overpass next to the hospital and sing an old song "Broad Sea and Sky" at the top of his lungs. The eldest brother may have experienced ups and downs himself, but he sang this song so sincerely and touchingly.

.

All the passers-by burst into tears. Although there was no begging pot in front of him, kind-hearted passers-by still generously donated one yuan or ten yuan in change in front of him.

But they were all picked up by Hermès and handed back to passers-by. The big brother sang, just to find freedom. Although he was down and out, he was not short of this little money.

Holding the cash from selling your house and trading in and out of the stock market on your mobile phone every day, you can earn money to support your family. Your investment acumen is also a survival skill at this time.

Sisi's surgery has entered the third stage, dealing with lung tumors. Because the lungs are blocked by the ribs, it is very difficult to focus high-frequency ultrasound. The ultrasound can only pass through the narrow rib gap.

However, Yang Ping has repeatedly simulated in the system space and obtained accurate data, which can be used to complete the operation.

Medicine, iron and fire! The energy represented by fire will definitely shine in the future.

Perhaps one day, many surgical operations will not even require minimally invasive small incisions, and the energy can be used to remove lesions.

That will be a new era.


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