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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Distraught families wait in anguish outside LNJP Hospital after Red Fort blast leaves several dead,
New Delhi (PTI) Hours after a high-intensity car explosion near the Red Fort killed at least eight people and injured 24 others, heart-wrenching scenes unfolded outside the LNJP Hospital on Monday night, as families waited anxiously for word on their loved ones.
Confusion and grief marked the atmosphere, with relatives alleging lack of information and mismanagement. Many said they were not being allowed inside to check on the victims.
Sudheer Sharma, a resident of Rohtas Nagar in Shahdara, said his son Ankush Sharma was critically injured in the explosion, battling for his life in the ICU.
"My son went to visit the Gauri Shankar temple with his friend Rahul Kaushik. While Rahul was sent home after stitches on his head, Ankush is fighting for his life," he said, adding that his son worked at a jewellery shop.
Zeeshan Ansari, brother-in-law of Dawd who sustained injuries in the blast, said, "He called me after the incident. We rushed here immediately, but have not been allowed to see him till now."
Mohammad Danish, cousin of Sameer Khan, an auto-rickshaw driver injured in the blast, said a stranger called him to inform him about the incident.
"Sameer is in the ICU. We still don't know how bad his situation is," Danish said.
Tahir Mohammad, a relative of Sameer, said, "The hospital staff is not allowing us to see him."
At one point, an elderly man was seen pleading with police and hospital guards to let him inside to check on his son.
He was finally allowed after a heated argument.
Some people said there was "complete mismanagement" at the hospital, with no clear communication as to where to go or which gate to enter.
"We just want to know if our family members are alive," one of them said.
Union Home Minister Amit Shah also visited the LNJP Hospital to take stock of the situation.
The blast, which occurred at 6.52 pm near the Red Fort traffic signal, gutted several vehicles and left multiple people critically injured.
Authorities said all major agencies -- Delhi Police, NIA, NSG and forensic teams -- are investigating the cause of the explosion.
