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MedWorm: Apert Syndrome News



MedWorm.com provides a medical RSS filtering service. Thousands of medical RSS feeds are combined and output via different filters. This feed contains the latest news in Apert Syndrome



Last Build Date: Tue, 13 Feb 2018 17:27:29 +0100

 



Parents of a boy with fused fingers sell their belongings

Tue, 29 Aug 2017 12:48:22 +0100

Aswanth, eight, from Palakurthi in the southern Indian state of Telangana, suffers from Apert syndrome, which makes the head grow abnormally large and is associated with intellectual disability. (Source: the Mail online | Health)

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A Day to Remember That Every Child Deserves a Chance

Mon, 27 Feb 2017 16:18:07 +0100

Emina Cerimovic is a disability rights researcher at Human Rights Watch.By Emina ĆerimovićNEW YORK, Feb 27 2017 (IPS)The day I met Julija she was playing cheerfully with her baby sister on the floor inside their room in Kragujevac, a small town in southern Serbia. When she saw me – a stranger — on the doorstep, she smiled widely and stretched out her hands, offering a hug. As I held her, I could hear how difficult it was for her to breathe. I looked at her, she smiled and touched my face with her hands and only then did I see that Julija’s fingers were webbed.Julija was born with Apert Syndrome, a rare genetic condition. Children with this syndrome have fused skull bones, resulting in distorted facial features, vision and hearing loss, trouble with breat...



Families with Apert syndrome find similarities, not differences

Tue, 04 Oct 2016 12:21:54 +0100

Madilynn and her father Rocky For some families in the waiting room on the day of the Apert syndrome clinic, it’s a reunion. For others, it’s a revelation. Coming to Boston Children’s Hospital from as far away as China, some have never met another child with Apert syndrome. Before long, parents and kids of all ages and ethnicities are taking group selfies as the younger children run around and play. “These kids have the brightest smiles, they’re very resilient,” says Tambra Milot, mother of 3-year-old Madilynn. Each year, the clinic sees about 50 children with Apert syndrome, a rare genetic disorder in which the skull, face, hands and feet develop abnormally. The clinic is held at least twice a month, bringing together the specialists each child needs to see. Today, families ar...



The testicle timebomb warning: Older fathers 'are more likely to have mutant sperm...and children with genetic diseases'

Mon, 08 Feb 2016 20:03:30 +0100

As a man ages, the risk of conditions such as Apert syndrome, which affects skull and limb development, and dwarfism increases, Oxford University researchers found. (Source: the Mail online | Health)



What Life Is Like With A Disfigured Face

Fri, 26 Jun 2015 12:25:36 +0100

(Photo: © Anthony Gerace) In a world obsessed with beauty, living with a facial disfigurement can be hard. Neil Steinberg explores the past and present to find out what it’s like to look different.“Take your ear off for me, please,” Rosie Seelaus says to Randy James, who is sitting on a black exam chair in a special room designed for viewing colors in the Craniofacial Center on the Near West Side of Chicago.He reaches up and detaches his right ear, which she created for him out of silicone seven years before. The ear is shabby, stained from skin oil and mottled by daily use. Viewed under various lights in the neutral, grey-walled room – daylight, incandescent, fluorescent – it remains a pasty beige.James is a doctor with the Department of Veterans Affairs in Las Vegas – the f...



He had a frame drilled into his head and his skull cracked open: Now, after more than 50 operations, brave Billy has a new face after battling rare illness

Sat, 18 Apr 2015 18:54:41 +0100

Seven-year-old Billy Mitchell, from Hertfordshire, was born with Apert syndrome, a rare condition that causes malformations of the skull, face, hands and feet. (Source: the Mail online | Health)

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Trading my patient ID bracelet for an employee ID badge

Mon, 29 Sep 2014 17:00:16 +0100

Honoring Craniofacial Acceptance Month and one young man’s quest to give back By Torrence Chrisman Torrence Chrisman, 24, is a history major at the University of Massachusetts Boston. At birth, Torrence was diagnosed with Apert syndrome, a rare genetic birth disorder involving abnormal growth of the skull and the face, fingers and toes. Read about his medical journey as a Boston Children’s patient and his quest to return to the hospital. I came to Boston after being born in Chicago, where I was diagnosed with the amazing Apert syndrome. It was because of the doctors and surgeons at Boston Children’s Hospital that I ended up in Massachusetts. One surgeon, Dr. Joe Upton, specialized in operating on the hands of Apert patients. He swung a home run every time he entered the operating roo...



Kira Yates, 9, has 'broken doll syndrome' and is held together with metal bar

Fri, 08 Aug 2014 17:59:27 +0100

Kira Yates, from Doncaster, has Apert syndrome - a condition involving abnormal growth of the skull and face and various other abnormalities. (Source: the Mail online | Health)



Shedding light on Apert syndrome development with the help of 3-D imaging

Tue, 04 Mar 2014 09:00:00 +0100

Three dimensional imaging of two different mouse models of Apert Syndrome shows that cranial deformation begins before birth and continues, worsening with time, according to a team of researchers who studied mice to better understand and treat the disorder in humans.Apert Syndrome is caused by mutations in FGFR2 - fibroblast growth factor receptor 2 - a gene, which usually produces a protein that functions in cell division, regulation of cell growth and maturation, formation of blood vessels, wound healing, and embryonic development. (Source: Health News from Medical News Today)



3-D imaging sheds light on Apert syndrome development

Fri, 28 Feb 2014 21:06:22 +0100

Three-dimensional imaging of two different mouse models of Apert Syndrome shows that cranial deformation begins before birth and continues, worsening with time, according to a team of researchers who studied mice to better understand and treat the disorder in humans. (Source: ScienceDaily Headlines)



Getting a head start on Apert syndrome

Fri, 28 Feb 2014 08:00:00 +0100

Scientists have gained insights into skull development in the rare disease Apert syndrome by showing that mice with this disease have consistent prenatal growth patterns. The findings will be published in the open access journal BMC Developmental Biology to coincide with Rare Diseases Day on the 28th February. Skull formation is normally a complex interplay of different signals from various tissues. Babies are born with sutures - gaps in the skull, which close up later on in development, allowing the skull to adapt to the rate of growth. (Source: Health News from Medical News Today)

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3-D imaging sheds light on Apert syndrome development

Fri, 28 Feb 2014 05:00:00 +0100

(Penn State) Three-dimensional imaging of two different mouse models of Apert Syndrome shows that cranial deformation begins before birth and continues, worsening with time, according to a team of researchers who studied mice to better understand and treat the disorder in humans. (Source: EurekAlert! - Biology)



Headspace helps to put a happy face on the children who look different

Sun, 10 Nov 2013 00:04:11 +0100

Art meets science in Liverpool as a top craniofacial surgeon enlists the help of the public to find a 'normal' head shapeChristian Duncan is a man with a thousand faces. And he needs every one of them to assist him in his delicate, invariably life-changing work.As a surgeon with the responsibility of redrawing the disfigured faces and reshaping the misshapen heads of children, he needs all the guidance he can muster. So in 2011 he came up with the idea of enlisting the public to help him in his work in the craniofacial unit at Alder Hey in Liverpool, one of Europe's biggest children's hospitals.Two years on, the result is Headspace, a fascinating and unique interactive installation, put together by three women graduates of Liverpool School of Art and Design, that is running at Fact (Founda...



Biology Conspires Against Women Having It All

Mon, 16 Sep 2013 12:54:40 +0100

Time keeps on ticking into the future but our parenting time is limited.read more (Source: Psychology Today Relationships Center)



Common genetic disease linked to father's age (EurekAlert, 6 June 2013)

Mon, 10 Jun 2013 12:00:00 +0100

A US study of the genetic disease Noonan Syndrome published in The American Journal of Human Genetics suggests that the de novo paternal mutation in the spermatogonial sperm cell may convey an advantage that allows them to increase in frequency, producing more mutated sperm in an age-dependent manner. The authors suggest that this may also confer a selection advantage for the recurrent mutations in the receptor tyrosine kinases that cause Apert syndrome and MEN2B. Full article (Source: Society for Endocrinology)