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New Genetic Disorder Affects Brain and Craniofacial Skeleton

New Genetic Disorder Affects Brain and Craniofacial Skeleton
by Angela Mohan on
January 22, 2021 at 12:10 PM
New genetic disorder is characterized by developmental delays and malformations of the brain, heart and facial features. Named linkage-specific-deubiquitylation-deficiency-induced embryonic defects syndrome (LINKED), the disorder is caused by a mutated version of the OTUD5 gene, that affects the key molecular steps in embryo development.
The findings indicate that the newly identified pathway may be essential for human development and may also underlie other disorders that are present at birth. The information will help scientists better understand such diseases both common and rare and improve patient care. The results were reported in ....

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Doctors Remove 55 Stones From Woman Patient's Kidney

Doctors Remove 55 Stones From Woman Patient s Kidney
by Colleen Fleiss on
December 22, 2020 at 11:03 PM
As many as 55 stones of different sizes have been removed from the left kidney of a 60-year-old woman by advanced endoscopy and minimal invasive surgery. The surgery was conducted by Aware Global Hospitals doctors.
It is among the rarest-of-rare cases when the patient had kidney stones in such large numbers, causing severe distress to her prior to the surgical procedure.
The woman reported at the hospital with acute abdominal pain during urination, and nausea and vomiting during pain, which were likely symptoms of kidney-related problem. The patient had undergone treatment for pain and vomitings from a local doctor but was not investigated for the underlying cause of her symptoms. ....

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