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Famous for practical marriage in Brazilian city in practice


Giulia Granchi and Vittor Tavares

BBC Brasil reporters were sent to Serrinha Dos Pintos

Mariana Castiñeiras / Caroline Souza Silvana Santos, in this designed way in green patterned clothes, in green patterned clothes that are spoan disease shown in an image bordered in the background.Mariana Castiñeiras / Caroline Souza

Families in Serrinha Dos Pintos lived without diagnosis until Silvana Santos Genety came

Silvana Santos, more than 20 years ago came to the small town of Serrinha Dos Pintos, and residents had no idea why so much local children lost their ability to go.

The farthest city in Northeastern Brazil is more than 5,000 people and the biologist and genetic worker is a place where Santos has been determined and is a previously unknown situation. Spoan syndrome.

The syndrome causes a genetic mutation, affects the nervous system, gradually weakens the body. Only appear when the variable gene is inherited from both parents.

Santos’s research was the first time the disease was depicted all over the world. For this and after the work, in 2024, BBC was named one of the most influential women.

Before Santos came, there was no explanation for the disease affecting the children of families. Today, residents speak of spoan and genetics.

“He has never made us a diagnosis. After the research, it came to help: people, financing, wheelchairs,” Markuinhos says one of the patients.

Pintos Serrinha: His world

Santos, São Paulo, the largest and most richest city in Brazil, many of the neighbors, was first of the same extensive family members from Serrinha. Many of them were a different grade cousin, who are married to each other.

Santos said they could not walk many people in his homeland, but did not know why.

One of the girls’ daughters is one of the weaknesses: like a child, it is necessary to use a wheelchair, which is moving in the eyes of them reluctantly and in the simplest positions.

The Santos and Research Group, where the research years, will lead a research group to identify them as the symptoms of Spoan syndrome.

They will continue to find 82 other cases in the world.

Mariana Castiñeiras / BBC's Serrinha Dos Pintos, two white tower, which is a large roof banner, shows two white towers with a roof of white letters below white letters.Mariana Castiñeiras / BBC

Serrinha dos Pintos’s Input reported to about one-third of research

At the invitation of his neighbors, Santos visited Serrinha on holiday. He describes his arrival as “His world” or “inherent world” – because of the things that appear not only because of the watery landscape and mountain landscapes, but also a remarkable social coincidence.

The more he walked and talked to local residents, and how often the general marriages between the cousin were surprised.

Serrinha’s geographical insulation and small interior migration, the population is related to many population, can be taken more and more among cousins.

The marriage between relatives in the world was appreciated by about 10% in early 2010. More than 50% in countries, more than 50% in countries such as Pakistan, less than 1% in Brazil and 1% in the United States and Russia. Experts say that the couple couple born in pairs are healthy.

However, these marriages are higher than a harmful genetic mutation of the family.

“If a couple does not have a relationship, the chances of being a rare genetic disorder or a child with disabilities are about 2-3%. The risk increased to 5-6%,” said the Genetic Luzhiv Costa Riis, Brazil’s Rio Grande do Sul.

Santos showed that Serrinha relates to more than 30% in 2010, and at least one child was a child with a disability.

Graphics with explanation of how Spoan syndrome can happen

Long way to diagnose

Santos Serrinha set off to find a diagnosis for the people, and he began to plan a detailed genetic research that requires many trips and eventually transferring to the region.

During the first years of the study, São Paulo and São Paulona went up to 2,000 km. DNA samples are trying to find a mutation, gathering local residents and family stories on coffee, coffee.

It was necessary to dedicate what was related to the three-month field work.

All in 2005, in 2005, in 2005, Brazilian Hinterland led the investigation into the existence of Spoan.

The Santos team found a chromosome loss of a small piece of a chromosome of mutation, a chromosome confirming that a genius is a key protein in the brain cells.

Graphic with SPOAN syndrome symptoms

“They said that this is a female worker in our family,” Farmer Lolô reminds the daughter of Rekane’s spoan.

Lolô, now 83, married his uncle and never left Serrinha. He still tends to livestock and trusts the family to serve Rejjane to fight daily duties.

However, the genetic mutation behind the spoan is greater than the old Maximiano legend: more than 500 years of Brazil, in the Northeast of Brazil.

“Sequence works, Patients show strong European ancestors, Portuguese, Dutch and Seefard support Santos, supporting the Jewish Jewish existence.

The theory, after two spoan incidents in Egypt, the theory has won the power and has already done so that the events of Egypt also shared the European ancestor in the Iberfar peninsula.

“Most likely, SEEPHardic came with the Jews or the survey,” Santos said. It believes that more work may be available in a global scale, especially in Portugal.

Mariana Castiñeiras / BBC Silvana Santos, stands in a green patterned dress on a street under a lamp post next to the houses.Mariana Castiñeiras / BBC

Silvana Santos is no longer living in the area, but continues to visit

Understand the risks

Although little progress to a treatment, the tracking patients brought a change. Rejjane reminds people who are called “disabled.” Now he just said spoan.

The wheelchairs did not only bring independence, but also helped prevent deformations – many in the past, many were simply in bed or on the floor.

As Spoan progresses, physical restrictions are worse with age and 50th, almost all patients depend on the audience.

This is the same for the children of Inés, one of Serrinha’s oldest. The 59-year-old Chiquinho can no longer talk and has a Markuinhos, 46, limited communication abilities.

“” Special “is difficult to have a child. We love them the same, but we are suffering for them,” says Inés who are married to a second uncle son.

Mariana Castiñeiras / BBC, pictures of family members with pictures of wall members above a person in a business wheelchair in a business wheelchair by a woman.Mariana Castiñeiras / BBC

There are two sons affected by Inês spoan syndrome

25, Chiquinho and Marquinho’s brother Larissa Queiroz, a distant relative was married. He and her husband Saulo, discovered the common ancestors after just a few months of acquaintance.

“Serrinha dos is in Pintos, we are deep, we are all cousins. We are relating to everyone,” he says.

Couples like Larissa and Saulo are the center of a new research project, which is also involved in Santos.

Mariana Castiñeiras / BBC Paula, the patient from Spoan, showed a wheelchair in a wooded street like a motorcycle, covered with windy green trees and shrubs.Mariana Castiñeiras / BBC

Paula and several other patients have already received motorized wheelchairs thanks to the research in processing therapy

The goal is not to stop the marriages, but Santos says to help you understand the genetic risks of couples. Now a university professor, it leads the genetic education center and works to expand the test in the northeastern Brazil.

Although Serrinha dos is no longer living in Pintos, every trip feels like to come home.

“It’s as if Santos is a family,” says Inés.



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