Honduran scientists discover new, unique syndrome

San Pedro Sula, Honduras.

For some years there are Klinefelter, Down, Guillain-Barre syndrome and dozens of diseases called in English, French, German and other languages ​​syndromes; but this week the scientific community was surprised: the Ramos-Martinez met, a dialog clinical manifestations discovered by researchers at the Catholic University of Honduras.

INCENTIVE

All team members worked for free. Their incentive was to detect syndrome

After about a year of reviews and rigorous edition, the Journal of Medical Case Reports BioMed Central, based in London, England, published on June 13 on its website the results of research conducted by students and doctors at the Catholic University of Honduras that validate the discovery of a syndrome that has been called Ramos-Martinez.

In scientific terms, a patient with Ramos-Martinez syndrome presents craniofacial dysmorphology, mitral valve prolapse, kyphoscoliosis, inguinal hernias, personality disorder, as part of the description of BioMed Central.

In simple words, the person suffering the syndrome is characterized by having facial malformations (small jaw pulled back), extra bones in the skull, personality disorders, some degree of deafness (has a small ear canal), back bent , inguinal hernias and heart problems.

For ethical reasons, scientific journals remain anonymous towards patients who are under investigation.

However, in this case, Journal of Medical Reports brought to light the identity and published the "patient perspective".

"This is very admirable, for years, magazines have published only the medical report regardless of what the patient felt or meant," says Daniel Gerardo Martínez in the magazine article in which also shows images of his skull, the subject of scientific analysis.

The name of the syndrome corresponds to the first name of Hector Miguel Ramos, leader of Group Medical Research Campus San Pedro Sula at the Catholic University, and the first name of Daniel Gerardo Martínez Irías (45 years) a professor of music and theater experiencing the clinical picture.

INVESTMENT

The investigation cost about $ 16,000, not including many expenses. The Catholic University funded part of it.

The investigation began three years ago when Martinez turned to the research group to study his case given that no specialist in Honduras had given a definitive diagnosis of your problem.

"He looked me because I lead the research group and told me his story, he said he had visited specialists and had not been diagnosed with and wanted to know what his biological identity," said Ramos.

Ramos, professor of neuroanatomy of the Catholic, took the case to the group (composed of 16 people, including students and graduates) and immediately began conducting research.

During two years of scientific studies, to Martinez they discovered three additional bones (symmetrical and relatively large) in the skull (which has a normal person), kyphoscoliosis, and found that one of the heart valves do not close properly.

"All the statements that he has can be traced to chromosome 7 because he was born without a section of chromosome 7," Ramos said. "This is the first patient in the world presenting this constellation of events for that genetic sector."

These young people have faith, have believed in a higher power and science to achieve results.

Benjamin Mena, Dean of Medicine at the Catholic University

For Benjamin Mena, Dean of Medicine at the Catholic University, "this is not only a contribution to society of Honduras, but for humanity".

With the discovery, Karla Reyes, Nelson Espinoza and Wilberg Moncada, some of the researchers are sure that people with these manifestations may know the syndrome sufferers.

"We took a long time to research and meetings we basically consisted of thinking," Reyes said.

To establish the genetic line of Martinez, Ramos group contacted the Greenwood Genetic Center (GGC) of South Carolina, USA which made the sequence of the genome of six relatives of the patient.

The Research Group prepares new publications on five investigations concerning other issues.