Nearly two decades of studying the Duchenne muscular dysfunction of the female professor

Dozens of years ago, Duchenne muscular dysplasia was a big challenge for Vietnam’s health sector because there was no prevention and treatment. This is a genetic disease associated with diving gender, the disease gene is located on X chromosome.

Children who are sick often manifest 2-3 years old, with symptoms of slow walking, weak walking, easy to fall. From 5-6 years old, the disease progressed more severe, the muscle groups in the arms, thighs and buttocks were small, and the calf and forearms were enlarged. By 13-15 years old, children lose their ability to walk and may die at the age of 18-20 due to exhaustion, heart failure or bacterial infection. Doctors at that time can only offer treatment regimen to help the disease progress slower.

Witnessing the increasing number of patients with Duchenne muscular dysplasia and disadvantaged of families, Dr. Nguyen Thi Phuong, National Hospital of Pediatrics, concerned. “We always wonder, if not treated, how to prevent this disease from appearing in future generations,” said Assoc. Prof. Phuong.

She said, in the 1990s, the country’s economy was still difficult, the scientific research conditions in Vietnam were very limited, the molecular techniques did not have the conditions for development. Dr. Phuong and his colleagues took the first steps in Duchenne muscular dysplasia study, which was the clinical description of the disease.

In Duchenne patients, the enzyme creatinine-oila (CK) increases very high in the blood without clinical symptoms, it exists during the disease. Ck decreases in the final stage of the disease, when the muscles are dashed. This can be tested for early diagnosis.

In women who carry the disease gene, CK also increases from doubling to dozens of times. Therefore, CK can be used to detect good people carrying the disease gene. “This is a simple method of biochemistry, low cost, suitable for Vietnamese conditions at that time.” Assoc. Prof. Phuong said.

Since 1996, the group began to publish initial research results such as the genetic characteristics of Duchenne muscle atrophy, or the ability to detect healthy people carrying the disease gene. In 1999, Dr. Nguyen Thi Phuong continued to study the discovery of Dystrophin gene mutation causing Duchenne in Vietnamese children. She said that at that time, the search for gene mutations faced many difficulties, had to send samples abroad to analyze, the success rate was not high.

Not stopping there, from 2001-2003, Dr. Phuong and his colleagues used the quantitative method of creatinine – kinase to detect good people carrying the disease gene to the mother’s mother or sister of the patient. This is a research issue of the State -level topic led by Prof. Dr. Trinh Van Bao, Head of Genetic Biology Department, Hanoi Medical University.

The team has chosen 122 families with children with Duchenne, prioritizing families who have participated in fighting in the chemical toxic substance. However, only 76 families participate. The group tested CK for 148 female members, discovered 44 people with rising serum index, identified as a healthy person carrying the disease gene and was consulted.

By quantifying CK, the research team of Dr. Nguyen Thi Phuong helped discover good people carrying the disease gene, helping the genetic consulting effectively, making an important contribution to the disease prevention. Patients and family members will be able to save medical records in the genetic consultancy room.

The relentless efforts of Assoc. Prof. Nguyen Thi Phuong and his colleagues have contributed to changing awareness and approach to genetic disease in Vietnam. Research has helped identify about 1,300 families. In 2012, the topic “Discovering a healthy person carrying the disease gene by quantitative enzyme Creatinine-rubase of serum” by the mistress is one of the six branch projects under the State-level topic of Prof. Trinh Van Bao was awarded the award State reward.

Assoc. The selection of specific treatments. Methods such as gene replacement (mini-dystrophin) or repair gene healing, which have been applied in the world, are opening up new hope for patients. However, for this solution to be effective, assessing the severity of the disease and clinical monitoring is indispensable.

The current modern diagnostic methods such as MLPA detect the major losing segment of the gene; The new generation sequence is widely applied in diagnosis with outstanding advantages. However, in some cases, the results are still difficult to make a final conclusion. With a combination with traditional methods such as measuring CK concentration will help orient in diagnosis with patients without family history; Help support session the Genee test results by new method.

“According to the current data, about 1300 families have been identified. Determining the person who carries the disease of the disease is of great significance in the disease room through the diagnosis of the nesting. Used in Duchenne muscle nourishment screening in some countries, “said Assoc. Prof. Dung said.

Today, CK test is still a common method to detect good people carrying the disease gene because of its cheap price and can do many places. In addition, modern medicine has come far with the ability to detect gene mutations with molecular technology, opening up many hope in treatment and genetic prevention by genetic consulting and prenatal diagnosis. .

Assoc.

In 1972, she graduated from a doctor at Hanoi Medical University and stayed at the school as a teaching staff at the pediatric subject. After a year, she was assigned to go to genetic subjects and were trained in genetic fields in the Department of Biology, the University.

In 1989, Dr. Nguyen Thi Phuong successfully defended her doctoral thesis on genetics at Karlova Prague University, Czechoslovakia. Returning to the country, in 1990, she worked at the Department of Endocrinology – Metabolism – Genetics, the Child Health Protection Institute (now the National Hospital of Pediatrics). Since then until retirement in 2007, she focused on studying genetic diseases such as Down syndrome, chromosomal disorders such as Turne syndrome, Klinefelter … genetic diseases due to gene mutations. About muscle, bones, congenital adrenal hyperplasia and birth defects. Besides, she also studied the common pediatric major.

Assoc.Prof.Dr. Nguyen Thi Phuong has chaired two State -level branches on Duchenne muscle care, and the State -level topic on health and puberty research in children, implementing 20 grassroots topics. In addition, she published 34 articles in prestigious medical magazines.