Chapter 1530: 1136 Chapter: Now is not suitable for chatting
The genetic testing report for the Neurology Departnt’s patient is out. From the gene analysis, this is a hereditary epilepsy, with the patient’s gene located on the Y chromoso.
The Y chromoso is inherited from the father, which indicates that a similar genetic disorder might exist on his father’s side. However, according to his father, he doesn’t recall any instances of epilepsy seizures in his family.
The symptoms of epilepsy are quite typical and easy to identify. If Tong Yongqian’s father isn’t lying, this presents a contradiction.
If the family has a disease-causing gene on the Y chromoso, why haven’t there been any cases within the family?
If sothing unusual happens, there must be sothing wrong. Either the matter itself has a problem, or the reasoning basis—rules—has issues, requiring the rule to be changed.
Originally, the epilepsy should have been inherited maternally, but now it’s inherited paternally. This case feels like a detective solving a mystery, filled with enigmas.
Although the child’s life was saved, the diagnosis isn’t completely clear yet, and the epilepsy symptoms are still occurring, suggesting that epilepsy isn’t related to an infection or is only weakly connected; there’s a different cause.
Just as everyone assud it was a genetic disorder, the result satisfied everyone. It indeed is a genetic disorder, and the answer is clear: the hereditary gene is on the Y chromoso, which is from the father, but his genetic disorder appears on the maternal side, which contradicts the rules of genetics.
Biologically, this is unreasonable. What if his mother has the rare XXY chromoso? Generally, an XXY chromoso typically manifests male physiological traits, and individuals with androgen deficiency might only show varying degrees of feminized secondary sexual characteristics. If we speculate this way, how could soone with male physiological traits be female and capable of having children?
This case is interesting. Yang Ping brought it up for discussion to enhance everyone’s ability to diagnose complex and difficult diseases. The diagnosis of complex diseases tests the breadth of knowledge. A broad knowledge base allows for comprehensive consideration of possible conditions when diagnosing, starting with common diseases and screening one by one, naturally leading to rare diseases without overlooking them.
If there’s a blind spot in knowledge, the correct diagnosis might fall right into this blind spot, preventing the doctor from achieving an accurate diagnosis.
No correct diagnosis ans no correct treatnt.
In Tong Yongqian’s case, if Yang Ping and Director Xu lacked knowledge of primary amoebic ningoencephalitis at that ti, the patient couldn’t have been saved.
The eting Room at the Institute was filled with people who began discussing this Neurology Departnt case. Discussing cases from various departnts is routine in the Institute because the doctors trained here must have interdisciplinary knowledge. Many Laboratory researchers aren’t clinical doctors, but they’re also interested in listening to expand their knowledge and minimize their knowledge blind spots in dicine.
Clinical dicine and Basic dicine collaborate in discussing cases together, a model impossible in other hospitals. Besides clinical doctors and laboratory researchers, PhDs and Masters from Nandu dical University are also present in the eting Room, actively sharing their opinions without fear of ridicule.
“To verify whether it’s a genetic disorder and where it cos from, we should retest his parents’ genes. If costs are a concern, we can do it for free,” said a PhD from the Nandu dical University Genetics Laboratory.
Actually, he’s correct. It’s simple, albeit technically demanding, and generally, people wouldn’t do it this way. Most hospitals don’t have a Genetics Laboratory for comprehensive and complex genetic testing. Sanbo Hospital relies on the Nandu dical University’s Genetics Laboratory, making genetic testing very convenient.
“We can also check their biological relationship. If there’s no biological relationship, the basis for relying on a genetic pedigree for inference disappears,” added another PhD.
The prerequisite for inferring based on a genetic pedigree is that the patient must have a biological relationship with those in the pedigree. Without a real relationship, the patient falls outside genetic connections, naturally invalidating predictions based on that pedigree.
“This approach carries ethical risks. We shouldn’t cause a scandal over a case,” expressed a concern from a laboratory researcher.
Doctor Li Guodong from the ward said: “This is beyond what we should consider. We focus on dical diagnosis and must do this to clarify the diagnosis.”
Xia Shu added: “The current dical model has shifted from a biodical model to a biological-psychological-social dical model. We must consider biological, physiological, and social dinsions and ethically, not just from a biological perspective. It’s best to consult his parents’ opinions before proceeding. Ideally, talk separately to both parents, and if either disagrees, the testing shouldn’t continue to prevent accidental family tragedies.”
This indeed is problematic. If we continue and discover the child isn’t biologically theirs, the emotional harm to his father would be imnse, a consideration that can’t be ignored.
If we stop here and do not proceed further, the disease causing his epilepsy won’t be accurately diagnosed or treated correctly.
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