Tag

Rare Disorders

All articles tagged with #rare disorders

health1 year ago•2 min saved

"Baby Born with Rare Mermaid Syndrome and No Genitalia"

A baby in Tanzania was born with sirenomelia, a rare condition where the lower body is fused together, and lived for only five minutes. The infant had multiple critical defects, including missing an arm and ambiguous genitalia. The condition, almost always fatal, has unclear causes and is rarely documented. The mother, a rural farmer, had no significant medical history or harmful habits, though exposure to fertilizers was noted. The case was reported in the Journal of Medical Case Reports.

via Daily Mail|

#health #infant-mortality #medical-case

health-and-medicine1 year ago•3 min saved

"Captivating Images of the Human Body That Defy Expectations"

A collection of 43 wild photos of the human body showcases various medical conditions, rare disorders, and anatomical anomalies, including images of MRI scans during kissing, fringed fimbriated folds under the tongue, hearts in need of replacement, a heart beating outside the body, a woman pregnant with triplets, Marfan syndrome hands and eyes, hyperdontia with excessive teeth, close-ups of the human brain and eyes, teratomas, milk ducts, and various other medical conditions and rare disorders.

via BuzzFeed|

#anatomy #health-and-medicine #human-body

health2 years ago•3 min saved

Genetic Test Saves Newborn's Life, Holds Promise for Millions

A recent study published in the Journal of the American Medical Association found that "whole genome" tests are nearly twice as effective as narrower tests at identifying genetic abnormalities that can cause disease in infants. These tests have the potential to save lives by providing early diagnoses for rare disorders, as demonstrated by the case of Brynn Schulte, who was diagnosed with factor XIII deficiency through a whole genome test. However, there are challenges such as varying interpretations of results and higher costs, which may limit the widespread use of these tests. Nonetheless, researchers believe that whole genome tests could eventually benefit millions of hospitalized babies with complex conditions.

via Medical Xpress|

#genetic-testing #health #infant-health

health2 years ago•4 min saved

Genetic Test Saves Newborn's Life, Holds Promise for Millions

A recent study published in the Journal of the American Medical Association suggests that "whole genome" tests, which analyze an individual's full genetic blueprint, are nearly twice as effective as narrower tests at identifying genetic abnormalities that can cause disease in infants. The study found that whole genome tests detected 49% of abnormalities compared to 27% with more commonly used targeted tests. While whole genome tests are costlier and may not be covered by insurance, researchers believe they could eventually be used for millions of hospitalized babies with complex conditions. However, challenges remain in interpreting test results and ensuring broader access to full genome testing.

via ABC News|

#genetic-testing #health #infant-health