Results 31 to 40 of about 29,128 (218)

Remote Language Assessment in School‐Age Children With Phelan–McDermid Syndrome and Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde, Jessica Klusek, Linda D. Ward, Diana Ivankovic, Nancy Powers, Vijay Shankar, Rachel A. Lyman, Trudy F. C. Mackay, William Bridges, Katy Phelan, Curtis Rogers, Luigi Boccuto, Sara M. Sarasua   +12 more
wiley   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Photographic Assessment of Change in Trichotillomania: Psychometric Properties and Variables Influencing Interpretation [PDF]

, 2016
Although photographic assessment has been found to be reliable in assessing hair loss in Trichotillomania, the validity of this method is unclear, particularly for gauging progress in treatment.
Compton, Scott N., Franklin, Maddison R., Franklin, Martin E., Houghton, David C., Neal-Barnett, Angela M., Saunders, Stephen M., Twohig, Michael P., Woods, Douglas W.   +7 more
core   +1 more source

Why Can't I Cry [PDF]

, 2017
This paper won a honorable mention writing flag award in the creative/reflective category. Che, writing for Kathleen Stewart’s ANT 325L class, “Ethnography of Emotion”.Stewart, KathleenUndergraduate ...
Che, James
core   +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

A Randomized, Double-Blind, Placebo-Controlled Pilot Study to Evaluate the Efficacy and Safety of Latanoprost for Eyelash Growth in Aesthetic Medicine

Cosmetics, 2023
Eyelashes, in addition to fulfilling eye-protective functions, generate an aesthetic impact. Latanoprost is a prostaglandin analog, commonly used for the treatment of glaucoma and intraocular hypertension.
Janette Ivone Espinoza-Silva, Ernesto Macias-Nevarez, Christian Quintus Scheckhuber, Mario Adrián Tienda-Vázquez   +3 more
doaj   +1 more source

Mechanistic Insights Into Photocatalytic Materials for Toxic Pollutants: Environmental Remediation of Personal Care Products

Asia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT Photocatalytic materials have emerged as promising solutions for environmental applications due to their ability to degrade organic pollutants under sunlight or artificial light. In this review, recent progress on the photocatalytic materials used for the degradation of pharmaceutical personal care products (PPCPs) in environmental ...
Urvashi Sen, Gunjan Chauhan, Surbhi Soni, Monika Vats, Anand Kumar, Indra Bahadur   +5 more
wiley   +1 more source

Treatment of Trichiasis by Releasing Follicle Roots of Eyelashes: A New Technique

Plastic and Reconstructive Surgery, Global Open, 2021
Summary:. Trichiasis is an acquired condition in which eyelashes are misdirected toward the ocular surface, resulting in eye irritation and ocular morbidities.
Sacit Karademir, MD, Galip Agaoglu, MD
doaj   +1 more source

Vogt-Koyanagi-Harada Syndrome in a 10 Years Old Child [PDF]

, 2011
The Vogt-Koyanagi-Harada (VKH) syndrome is a rare systemic disorder of uveitis, dysacousia, vitiligo, premature graying of the hair, eyebrows and eyelashes, and meningoencephalitis. Although frequently unrecognised,VKH may affect children.
Singh, T, Sufi, AR, Zargar, S
core   +1 more source

The mediating role of shame in the relationship between adolescent hairpulling and co‐occurring anxiety and depressive symptomology

JCPP Advances, EarlyView.
This study found that shame is a significant mediator in positive associations between hairpulling severity and depression and anxiety severity within a community sample of adolescents with clinical levels of hair‐pulling severity. It also found high levels of trance‐pulling and post‐pulling rituals.
Talia F. Mayerson, Clare Mackay, Polly Waite   +2 more
wiley   +1 more source