Results 131 to 140 of about 8,804 (263)

Digital psychotherapeutic interventions to reduce dermatological symptom burden: Development and testing of MindMySkin. [PDF]

JAAD Int
Chua JY, Long V, Yeo PM, Ding J, Dua J, Chandran NS, Lim Q, See Tow HX, Sim W, Chong WI, Suendermann O, De Araujo DP, Valderas JM, Phan P, Hsu KJ, Choi E.   +15 more
europepmc   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Communicating to the Intellect, Heart, and Person: A Model Describing Participants' Experience of Goals of Care Discussions Conducted During Acute Inpatient Care. [PDF]

Palliat Med Rep
Lee JS, Fu KJXY, Wiryasaputra L, Lim CZQ, Patinadan PV, Ong JYJ, Ho AHY, Yung TSH.   +7 more
europepmc   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

A Qualitative Exploration of Perspectives From Young Adults With Intellectual Disabilities and Their Caregivers Participating in a Lifestyle Intervention to Enhance Cooking Skills and Physical Fitness. [PDF]

J Appl Res Intellect Disabil
Bodde AE, Danon JC, Koon L, Sachs KM, Banwart M, Forseth B, Sherman J, Helsel BC, Ptomey LT.   +8 more
europepmc   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Outcomes of an Exercise Intervention in Adults With Down Syndrome and Congenital Heart Disease: A Secondary Analysis. [PDF]

J Intellect Disabil Res
Clina JG, Helsel BC, White DA, Sherman JR, Rice AM, Forsha DE, Danon JC, Bodde AE, Donnelly JE, Washburn RA, Ptomey LT.   +10 more
europepmc   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

The Power of ECHO Autism: Improving Confidence and Holistic Care for Autistic Adults. [PDF]

J Intellect Disabil Res
Cheak-Zamora N, Smith J, Howard M, Malow B, Sohl K, Mazurek M.   +5 more
europepmc   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source