Genetic interactions may shed light on NGLY1 deficiency
In 2012, four-year-old Bertrand Might became the first-ever patient diagnosed with a rare genetic disorder called N-glycanase (NGLY1) deficiency. The discovery of this condition and Bertrand s diagnosis allowed doctors to look for other children with the same genetic defect. Since then, more than 60 additional patients have been found.
The disease affects every system of the body and is characterized by low muscle tone, seizures, developmental delays, and an inability to produce tears.
Sadly, Bertrand passed away in October at the age of 12. Although his life was cut short, his legacy will benefit children around the world. Through their website, NGLY1.org, Bertrand s parents collect and share a wealth of research and family stories to help educate and inform the community. As more patients have been identified, it s become apparent that even though the same gene is deactivated in all of them, their symptoms and severity of d
“Certainly, you know it will be tough. But you don’t really know just how tough until you’re in it,” she told The Salt Lake Tribune’s editorial board. McCluskey’s case, she added, was “a complicated challenge.”
When she leaves, Watkins will have been in the leadership role for just three years one of the shorter presidential tenures for the U. in recent history.
The interim president could also be a prominent dean within the university; that has occurred previously when the position has been open.
For finding a permanent new leader, the Board of Regents already has approved hiring a national firm to help guide the process. The board will announce members of its search committee by the end of the month.
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Researchers and clinicians have long known that copper intrauterine devices (IUDs) work extremely well for emergency contraception. But few bothered to examine the possibility of using hormonal IUDs for the same purpose.
Now, in a first-of-its-kind study, University of Utah Health scientists found that hormonal IUDs were comparable to copper IUDs for use as emergency contraceptives. The researchers say the finding supports adding hormonal IUDs to current emergency contraception options. They conclude that using hormonal IUDs could have dramatic effects on emergency contraception, including reducing menstrual bleeding and cramping associated with copper IUDs.
The study appears in the Jan. 28 issue of the
SALT LAKE CITY The number of patients at Primary Children s Hospital diagnosed with a coronavirus-related complication has doubled from the past two months.
In fact, there are now over 1,500 confirmed cases of multisystem inflammatory syndrome in children, otherwise known as MIS-C. The syndrome develops after the child has been infected by SARS-CoV-2.
As medical experts try to unravel the long-term effects of COVID-19, Primary Children s Hospital officials announced Tuesday that they will begin the first-term study of MIS-C.
The Long-Term Outcomes after the Multisystem Inflammatory Syndrome In Children, referred to as the MUSIC Study, will seek to answer how MIS-C affects children who were diagnosed five years after they developed it.
Utahâs Primary Childrenâs Hospital will help lead 5-year study of a mystery illness that strikes children who get COVID-19
Primary has seen more than 50 cases of MIS-C in children after they fought the coronavirus.
(Photo courtesy of Primary Children s Hospital) Madilyn Dayton stayed at Primary Children s Hospital after developing a condition called multisystem inflammatory syndrome in children. The illness appears in some children after they have had COVID-19. | Updated: 10:31 p.m.
Madilyn Dayton said she is mostly, but not entirely, recovered from the effects of a mysterious illness that strikes some children after they have had COVID-19.
âI still get tired a lot, easily,â Dayton, 13, said Tuesday from her home in Cokeville, Wyo. âOther than that, everything has gone almost back to normal.â