New genetic disorder identified in human patient
New York, Sep 22: In a first, US researchers have identified a new genetic disorder, which was previously described in animal models, in a human patient.
Researchers from the Michigan State University found that the disorder is caused by mutations in a gene known as ornithine decarboxylase 1 (ODC1).
It is defined by a number of clinical features including large birth weight, enlarged head size, hair loss, reduced muscle strength, skin lesions, hearing loss and developmental delays.
"This remarkable case represents the first human example of a disorder that was described by researchers in a transgenic mouse model more than 20 years ago," said Andre Bachmann, Professor at the varsity.
However, the disorder is, as of yet, unnamed, and its long-term effects, which include impacts on the neurological system, are not completely known.
The disorder was first identified on an 11-month-old baby girl in Michigan.
In the study, published in the American Journal of Medical Genetics Part A, blood samples for testing were drawn at age 19 months and 32 months.
Two developmentally normal, age/gender matched patients that were being sedated for outpatient same-day procedures served as controls.
Red blood cells obtained from the patient showed elevated ODC protein and polyamine levels compared to healthy controls.
"The ODC1 gene plays an important role in a number of physiological and cell developmental processes including embryo and organ development," said Caleb Bupp, medical geneticist at Spectrum Health -- a US-based health care company
The study also showed that the ODC inhibitor DFMO -- a water soluble -- and US Food Drug Administration (FDA)-approved drug may serve as a disease-modifying drug, and an early therapeutic trial in a new diagnosis may prevent some of the clinical symptoms.
DFMO has been used for many years in the treatment of trypanosomiasis -- a tropical disease transmitted by biting insects and more recently entered clinical trials for pediatric neuroblastoma and colon cancer.
In mice, DFMO prevented hair loss and also partially restored hair growth and is considered a well-tolerated drug.
The original ODC1 mouse model was developed by Thomas G. O'Brien in 1995 at the Lankenau Medical Research Centre in Pennsylvania.
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Punjab CM Mann lays foundation stone of Rs 14.63 crore sports stadium in Sangrur
Sangrur (PTI): Punjab Chief Minister Bhagwant Mann on Thursday laid the foundation stone of a Rs 14.63 crore modern sports stadium here, underscoring that expanding access to quality playgrounds alongside a strong education system is key to steering the youth towards "purpose, performance, and global achievement".
The stadium coming up on 4.38 acres in Satouj will offer professional training and host a wide range of sports including badminton, handball, judo, netball, basketball, volleyball, football, gymnastics, kabaddi and karate, according to an official release.
"It is a historic day for the region as this stadium is coming up at a cost of Rs 14.63 crore. This stadium will be constructed over an area of 4.38 acres, and the complex will host various sporting activities," Mann said.
"The stadium will have a 200-metre athletic track, pavilion for spectators and players and a multipurpose indoor sports hall," he said.
While highlighting the wide range of facilities being created, Mann said professional training opportunities will be provided to children and youngsters in the stadium, adding that this project will ensure that the area emerges as a sports hub.
Emphasising the importance of balanced development, he said, "When there is a good school for education and a proper ground for sports, a child can bring glory to their village, state, and country on the global stage."
Reaffirming the Punjab government's focus on youth development, Mann said, "It is a matter of immense pride and satisfaction that the Punjab government is successfully providing world-class facilities for education and sports."
This project will help in further breaking the backbone of drugs by fostering sporting culture in the state, and it will help in channelising the unbounded energy of youth of state in a positive manner, he said.
Such stadiums will play an important role in helping the youth stay away from the curse of drugs and in order to encourage the youngsters to realise their dreams of winning medals in national and international sporting events, the CM said.
Later, Mann launched an ultra-modern community health centre here that aims to benefit the residents of 85 villages. It is equipped with round-the-clock emergency services, surgical facilities, treatment for serious illnesses and specialist care for children, he said.
Mann alleged that previous governments neglected regions like Dirba and kept development restricted. He said his government is reversing this by investing public money back into villages through hospitals, schools, libraries and roads.
"To impart quality health services to people, we have dedicated the CHC at village Kauhrian... This ambitious project has been completed at a cost of Rs 13.23 crore and the centre has a capacity of 30 beds," he said.
He further noted, "The CHC will also have paediatric specialists for treating children's diseases, and free treatment along with all necessary tests for mothers and children will be provided."
Mann added that dental treatment will also be provided by a specialist at the facility.
