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Urine sample test: new way to detect and screen for early stages of Alzheimer’s disease

<p>When it comes to <a href="https://cosmosmagazine.com/science/alzheimers-peer-review/" target="_blank" rel="noreferrer noopener">Alzheimer’s disease</a>, an early diagnosis – one made well before signs of irreversible dementia are apparent – is key to providing effective intervention and treatment. Now early detection might be as simple as a urine test, allowing for wide-scale and early screening across large populations of the elderly.</p> <p>A collaboration of researchers in China investigated urine samples for biomarkers from a large group of patients with varying severity of Alzheimer’s disease, comparing them with healthy controls.</p> <p>A compound known as <a href="https://www.acs.org/content/acs/en/molecule-of-the-week/archive/f/formic-acid.html?cid=home_motw" target="_blank" rel="noreferrer noopener">formic acid</a> (which is also produced by some ant and bee species) was a particularly sensitive marker for cognitive decline associated with Alzheimer’s disease. Significant increases in urinary formic acid levels were found in all samples from Alzheimer’s sufferers (including those with only early-stage subjective cognitive decline) as compared with those from the healthy controls.</p> <p>“Alzheimer’s disease is a continuous and concealed chronic disease, meaning that it can develop and last for many years before obvious cognitive impairment emerges,” say the authors. “The early stages of the disease occur before the irreversible dementia stage, and this is the golden window for intervention and treatment.”</p> <p>When blood samples of the participants were analysed for Alzheimer’s biomarkers in combination with the urinary formic acid level, the researchers were able to predict to what stage of the disease the patient had progressed. Their report is in <em><a href="https://www.frontiersin.org/articles/10.3389/fnagi.2022.1046066/full" target="_blank" rel="noreferrer noopener">Frontiers in Ageing</a></em>.</p> <p>Other methods currently used to diagnose Alzheimer’s disease, such as positron emission tomography brain scans, <a href="https://cosmosmagazine.com/health/medicine/alzheimers-blood-test-developed/" target="_blank" rel="noreferrer noopener">invasive blood draws</a> and lumbar punctures, tend to be costly and invasive. Although other urinary biomarkers for Alzheimer’s disease have been found, none have been able to detect the disease at its earliest stages.</p> <p>The links between urinary formic acid and Alzheimer’s disease are still not fully understood, but this research is an important step towards developing tools to diagnose and treat this debilitating condition amongst a vulnerable group in society.</p> <p>“Urinary formic acid showed an excellent sensitivity for early Alzheimer’s screening,” said the authors. “The detection of urine biomarkers of Alzheimer’s is convenient and cost-effective, and it should be performed during routine physical examinations of the elderly.”</p> <p><!-- Start of tracking content syndication. Please do not remove this section as it allows us to keep track of republished articles --></p> <p><img id="cosmos-post-tracker" style="opacity: 0; height: 1px!important; width: 1px!important; border: 0!important; position: absolute!important; z-index: -1!important;" src="https://syndication.cosmosmagazine.com/?id=227116&amp;title=Urine+sample+test%3A+new+way+to+detect+and+screen+for+early+stages+of+Alzheimer%E2%80%99s+disease" width="1" height="1" data-spai-target="src" data-spai-orig="" data-spai-exclude="nocdn" /></p> <p><!-- End of tracking content syndication --></p> <div id="contributors"> <p><em><a href="https://cosmosmagazine.com/health/urine-new-way-detect-alzheimers-disease/" target="_blank" rel="noopener">This article</a> was originally published on Cosmos Magazine and was written by Clare Kenyon. </em></p> <p><em>Image: Getty Images</em></p> </div>

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Meet the boy with uncombable hair syndrome

<p>A mother from the US state of Georgia is raising awareness for a unique condition, while also spreading the joy of her 1-year-old son. </p> <p>Katelyn Samples told <em>Good Morning America</em> that her son Locklan was diagnosed with the very rare uncombable hair syndrome after getting a message from a stranger on Instagram. </p> <p>“At first, you see ‘syndrome’ and you're like, ‘Oh my gosh,’ like is something wrong with my baby? Is he in pain or something?” Katelyn recalled.</p> <p>She added, “I just went in a tailspin and did a Google deep dive, called his pediatrician and the pediatrician even was like, ‘Hang on, let us look into this.’ They hadn't even heard of it."</p> <p>"So they sent us to a specialist, a paediatric dermatologist at Emory in Atlanta and that's where we were able to get the diagnosis.”</p> <blockquote class="instagram-media" style="background: #FFF; border: 0; border-radius: 3px; box-shadow: 0 0 1px 0 rgba(0,0,0,0.5),0 1px 10px 0 rgba(0,0,0,0.15); margin: 1px; max-width: 540px; min-width: 326px; padding: 0; width: calc(100% - 2px);" data-instgrm-permalink="https://www.instagram.com/p/CYZ4UHnrOw2/?utm_source=ig_embed&amp;utm_campaign=loading" data-instgrm-version="14"> <div style="padding: 16px;"> <div style="display: flex; flex-direction: row; align-items: center;"> <div style="background-color: #f4f4f4; border-radius: 50%; flex-grow: 0; height: 40px; margin-right: 14px; width: 40px;"> </div> <div style="display: flex; flex-direction: column; flex-grow: 1; justify-content: center;"> <div style="background-color: #f4f4f4; border-radius: 4px; flex-grow: 0; height: 14px; margin-bottom: 6px; width: 100px;"> </div> <div style="background-color: #f4f4f4; border-radius: 4px; flex-grow: 0; height: 14px; width: 60px;"> </div> </div> </div> <div style="padding: 19% 0;"> </div> <div style="display: block; height: 50px; margin: 0 auto 12px; width: 50px;"> </div> <div style="padding-top: 8px;"> <div style="color: #3897f0; font-family: Arial,sans-serif; font-size: 14px; font-style: normal; font-weight: 550; line-height: 18px;">View this post on Instagram</div> </div> <div style="padding: 12.5% 0;"> </div> <div style="display: flex; flex-direction: row; margin-bottom: 14px; align-items: center;"> <div> <div style="background-color: #f4f4f4; border-radius: 50%; height: 12.5px; width: 12.5px; transform: translateX(0px) translateY(7px);"> </div> <div style="background-color: #f4f4f4; height: 12.5px; transform: rotate(-45deg) translateX(3px) translateY(1px); width: 12.5px; flex-grow: 0; margin-right: 14px; margin-left: 2px;"> </div> <div style="background-color: #f4f4f4; border-radius: 50%; height: 12.5px; width: 12.5px; transform: translateX(9px) translateY(-18px);"> </div> </div> <div style="margin-left: 8px;"> <div style="background-color: #f4f4f4; border-radius: 50%; flex-grow: 0; height: 20px; width: 20px;"> </div> <div style="width: 0; height: 0; border-top: 2px solid transparent; border-left: 6px solid #f4f4f4; border-bottom: 2px solid transparent; transform: translateX(16px) translateY(-4px) rotate(30deg);"> </div> </div> <div style="margin-left: auto;"> <div style="width: 0px; border-top: 8px solid #F4F4F4; border-right: 8px solid transparent; transform: translateY(16px);"> </div> <div style="background-color: #f4f4f4; flex-grow: 0; height: 12px; width: 16px; transform: translateY(-4px);"> </div> <div style="width: 0; height: 0; border-top: 8px solid #F4F4F4; border-left: 8px solid transparent; transform: translateY(-4px) translateX(8px);"> </div> </div> </div> <div style="display: flex; flex-direction: column; flex-grow: 1; justify-content: center; margin-bottom: 24px;"> <div style="background-color: #f4f4f4; border-radius: 4px; flex-grow: 0; height: 14px; margin-bottom: 6px; width: 224px;"> </div> <div style="background-color: #f4f4f4; border-radius: 4px; flex-grow: 0; height: 14px; width: 144px;"> </div> </div> <p style="color: #c9c8cd; font-family: Arial,sans-serif; font-size: 14px; line-height: 17px; margin-bottom: 0; margin-top: 8px; overflow: hidden; padding: 8px 0 7px; text-align: center; text-overflow: ellipsis; white-space: nowrap;"><a style="color: #c9c8cd; font-family: Arial,sans-serif; font-size: 14px; font-style: normal; font-weight: normal; line-height: 17px; text-decoration: none;" href="https://www.instagram.com/p/CYZ4UHnrOw2/?utm_source=ig_embed&amp;utm_campaign=loading" target="_blank" rel="noopener">A post shared by Locklan Samples (@uncombable_locks)</a></p> </div> </blockquote> <p><a href="https://rarediseases.info.nih.gov/diseases/5404/uncombable-hair-syndrome" target="_blank" rel="noopener">Uncombable hair syndrome</a> is a rare hair disorder and genetic condition that usually affects children between the ages of three months and three years. </p> <p>According to the NIH, only about 100 cases have been reported in medical studies but experts say there could be more unreported cases.</p> <p>“People might just be like, ‘Oh, my child has unruly hair or hair that's difficult to tame, but they might not have sought a medical professional, like a pediatrician or dermatologist to formally diagnose the condition,” Dr. Carol Cheng, a paediatric dermatologist at UCLA Health told <em>Good Morning America</em>. </p> <p>According to Dr. Cheng, those with uncombable hair syndrome, which is also known as spun glass hair, can have hair that is difficult to manage due to growing in all directions, as well as being straw-coloured or have a dull texture. </p> <p>Uncombable hair syndrome is diagnosed when a specialist completes a genetic test and an examination of a hair clipping with a special kind of microscope. </p> <p>Despite the name of the syndrome, Katelyn says she can still somewhat manage Locklan's hair, and is so far relatively low maintenance. </p> <blockquote class="instagram-media" style="background: #FFF; border: 0; border-radius: 3px; box-shadow: 0 0 1px 0 rgba(0,0,0,0.5),0 1px 10px 0 rgba(0,0,0,0.15); margin: 1px; max-width: 540px; min-width: 326px; padding: 0; width: calc(100% - 2px);" data-instgrm-permalink="https://www.instagram.com/p/CXZnsg7rw5m/?utm_source=ig_embed&amp;utm_campaign=loading" data-instgrm-version="14"> <div style="padding: 16px;"> <div style="display: flex; flex-direction: row; align-items: center;"> <div style="background-color: #f4f4f4; border-radius: 50%; flex-grow: 0; height: 40px; margin-right: 14px; width: 40px;"> </div> <div style="display: flex; flex-direction: column; flex-grow: 1; justify-content: center;"> <div style="background-color: #f4f4f4; border-radius: 4px; flex-grow: 0; height: 14px; margin-bottom: 6px; width: 100px;"> </div> <div style="background-color: #f4f4f4; border-radius: 4px; flex-grow: 0; height: 14px; width: 60px;"> </div> </div> </div> <div style="padding: 19% 0;"> </div> <div style="display: block; height: 50px; margin: 0 auto 12px; width: 50px;"> </div> <div style="padding-top: 8px;"> <div style="color: #3897f0; font-family: Arial,sans-serif; font-size: 14px; font-style: normal; font-weight: 550; line-height: 18px;">View this post on Instagram</div> </div> <div style="padding: 12.5% 0;"> </div> <div style="display: flex; flex-direction: row; margin-bottom: 14px; align-items: center;"> <div> <div style="background-color: #f4f4f4; border-radius: 50%; height: 12.5px; width: 12.5px; transform: translateX(0px) translateY(7px);"> </div> <div style="background-color: #f4f4f4; height: 12.5px; transform: rotate(-45deg) translateX(3px) translateY(1px); width: 12.5px; flex-grow: 0; margin-right: 14px; margin-left: 2px;"> </div> <div style="background-color: #f4f4f4; border-radius: 50%; height: 12.5px; width: 12.5px; transform: translateX(9px) translateY(-18px);"> </div> </div> <div style="margin-left: 8px;"> <div style="background-color: #f4f4f4; border-radius: 50%; flex-grow: 0; height: 20px; width: 20px;"> </div> <div style="width: 0; height: 0; border-top: 2px solid transparent; border-left: 6px solid #f4f4f4; border-bottom: 2px solid transparent; transform: translateX(16px) translateY(-4px) rotate(30deg);"> </div> </div> <div style="margin-left: auto;"> <div style="width: 0px; border-top: 8px solid #F4F4F4; border-right: 8px solid transparent; transform: translateY(16px);"> </div> <div style="background-color: #f4f4f4; flex-grow: 0; height: 12px; width: 16px; transform: translateY(-4px);"> </div> <div style="width: 0; height: 0; border-top: 8px solid #F4F4F4; border-left: 8px solid transparent; transform: translateY(-4px) translateX(8px);"> </div> </div> </div> <div style="display: flex; flex-direction: column; flex-grow: 1; justify-content: center; margin-bottom: 24px;"> <div style="background-color: #f4f4f4; border-radius: 4px; flex-grow: 0; height: 14px; margin-bottom: 6px; width: 224px;"> </div> <div style="background-color: #f4f4f4; border-radius: 4px; flex-grow: 0; height: 14px; width: 144px;"> </div> </div> <p style="color: #c9c8cd; font-family: Arial,sans-serif; font-size: 14px; line-height: 17px; margin-bottom: 0; margin-top: 8px; overflow: hidden; padding: 8px 0 7px; text-align: center; text-overflow: ellipsis; white-space: nowrap;"><a style="color: #c9c8cd; font-family: Arial,sans-serif; font-size: 14px; font-style: normal; font-weight: normal; line-height: 17px; text-decoration: none;" href="https://www.instagram.com/p/CXZnsg7rw5m/?utm_source=ig_embed&amp;utm_campaign=loading" target="_blank" rel="noopener">A post shared by Locklan Samples (@uncombable_locks)</a></p> </div> </blockquote> <p>“It can get matted easily. It is very fragile. … It can get tangled and I do have to be careful," she said.</p> <p>"That would be an example of a time I actually would wash it because I very rarely wash his hair. Just doesn't need to be, it doesn't really get greasy.”</p> <p>Katelyn said a lot of people, both online and in person, get curious about Locklan's hair and make unusual comments. </p> <p>“We get a lot of comments about him looking like a dandelion and that's actually a very accurate description of appearance and how it feels," Samples said.</p> <p>"His hair is extremely soft, like a little baby chick. People will ask to touch it, which is fine with us, as long as people ask."</p> <p>While there is no formal treatment for uncombable hair syndrome, the abnormalities tend to resolve themselves with age.</p> <p>“Interestingly, this condition does get better with age. So after puberty or into adulthood, typically the hair condition does get better,” Dr. Cheng noted. “It doesn't stay with them for their entire life.”</p> <p><em>Image credits: Instagram @uncombable_locks</em></p>

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