SHANGHAI: Many women are unable to conceive and deliver a baby due to genetic problems caused by inherited chromosome abnormalities or single-gene defects.
Chinese researchers have recently made a breakthrough in discovering the phenotypes and genes responsible for female infertility. Phenotypes are the observable properties of the human body. Researchers from Fudan University in Shanghai and Shanghai Jiao Tong University identified four Chinese families with inherited female infertility and found a similar phenotype that their oocytes, or female reproductive cells, died before fertilization or within 20 to 30 hours after fertilization with sperm.
To understand the genetic cause behind the phenotype, they focused on the Pannexin 1, a protein in humans that is encoded by the gene PANX1. Pannexins are a protein family that plays an essential role in cell-to-cell communication. Millions of cells communicate and work together to perform important bodily processes that are necessary for survival. Identified more than a decade ago, PANX1 is involved in inflammation, infection, and cancer progression. However, previously there was no convincing evidence to show mutations in this gene responsible for any human diseases.
In frog and mouse models, researchers of the study discovered four mutations in PANX1 that are associated with such reproductive cell death. Researchers named the phenotype as “oocyte death” and identified it as a new Mendelian disease, a genetic disorder caused by a mutation in a single gene. The findings were published in the journal Science Translational Medicine. Sang Qing, the lead researcher, said the study has provided an explanation for an inherited form of female infertility and suggested a potential target for treatment of this disease.
Sindh health minister appeals to parents not to refuse OPV teams
KARACHI: Sindh Minister for Health Dr. Azra Pechuho here on Monday urged parents not to refuse the vaccinators visiting their homes for administration of oral polio vaccine (OPV) even if their children may have been regularly covered under routine immunisation.
Talking to journalists following the inaugural of the national OPV campaign at the Sindh Emergency Operation Centre for Polio, she said the additional drops received by their kids under OPV hold no hazard but simply boost immunity of the recipients.
“The exercise is meant to provide blanket cover to all children against the virus that persists in our environment,” said the health minister who is also a senior doctor.
Acknowledging that a reluctance has been registered among many of the affluent families in easing access of their under-five children to the mobile teams of vaccinators, engaged in door-to-door oral polio immunisation campaign, she said the elitist mindset has to be done away with.
She urged the media, both print and electronic, to make people realise that OPV being administered at the clinics of renowned pediatricians or that of government-run dispensaries or by authorised mobile teams are of same quality arranged by the government through Bill and Melinda Gates Foundation.
Countrywide anti-polio campaign commences
ISLAMABAD: A countrywide campaign to administer anti-polio drops to children under five years of age starts on Monday.
National Coordinator Polio Eradication Programme, Dr Rana Safdar said the anti-polio drive will target 39 million children in all four provinces, Azad Kashmir and Gilgit-Baltistan.
He urged the people to cooperate with polio teams to administer drops to their children against this crippling disease.
FDA approves first medical device to treat child inattention
WASHINGTON: The U.S. Food and Drug Administration (FDA) approved this week the first medical device to treat attention deficit hyperactivity disorder (ADHD) for children.
The device called the Monarch external Trigeminal Nerve Stimulation (eTNS) System is the first non-drug treatment for ADHD authorized for marketing by the FDA.
The prescription-only device is indicated for patients ages 7 to 12 years old who are not taking ADHD medication.
“This new device offers a safe, non-drug option for treatment of ADHD in pediatric patients through the use of mild nerve stimulation, a first of its kind,” said Carlos Pena, director of the Division of Neurological and Physical Medicine Devices in the FDA’s Center for Devices and Radiological Health.
ADHD is a common disorder that begins in childhood. ADHD patients have difficulty in staying focused and paying attention.
The cell-phone sized device generates a low-level electrical pulse and connects via a wire to a small patch that adheres to a patient’s forehead, just above the eyebrows, according to FDA.
The device delivers the low-level electrical stimulation to the branches of the trigeminal nerve, sending therapeutic signals to the parts of the brain thought to be involved in ADHD.
Brain imaging showed that eTNS increases activity in the brain regions that are known to be important in regulating attention, emotion and behavior, but the exact mechanism of eTNS is not yet known.
The stimulation feels like a tingling sensation on the skin, and the device should be used in the home under the supervision of a caregiver during periods of sleep. Clinical trials suggest that a response to eTNS may take up to four weeks to become evident.