Results 221 to 230 of about 2,598,782 (346)

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

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

Changes in emotional granularity under a population-level stressor predict social anxiety and depressive symptoms. [PDF]

J Res Adolesc
Liu S, Zabag R, Xu J, Wang Y, Deng W, Joormann J, Gadassi-Polack R.   +6 more
europepmc   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Perfectionism Mediates the Relationship Between Parental Expectations and Adolescent Depressive Symptoms. [PDF]

Behav Sci (Basel)
Aworefa TS, Fletcher KL.
europepmc   +1 more source

Pharmacokinetics of tralokinumab in adolescents with asthma: implications for future dosing [PDF]

, 2015
Paul Baverel, Meena Jain, Iwona Stelmach, Dewei She, Balaji Agoram, Sara Sandbach, Edward Piper, Piotr Kuna   +7 more
openalex   +1 more source

Adolescent mental health and social inequality in the aftermath of COVID-19 in Bogotá, Colombia: a qualitative study using a critical ecological model. [PDF]

BMC Public Health
Sánchez-Castro JC, Caliz Romero NE, Pilz González L, Stock C, Heinrichs K.   +4 more
europepmc   +1 more source

Are the psychological needs of adolescent survivors of pediatric cancer adequately identified and treated?

, 2012
Lisa S. Kahalley, Stephanie J. Wilson, Vida L. Tyc, Heather M. Conklin, Melissa M. Hudson, Shengjie Wu, Xiaoping Xiong, Heather Stancel, Pamela S. Hinds   +8 more
openalex   +2 more sources

Clinical manifestations of Rathke’s cleft cysts and their natural progression during 2 years in children and adolescents [PDF]

, 2017
Jo Eun Jung, Juhyun Jin, Mo Kyung Jung, Ahreum Kwon, Hyun Wook Chae, Duk Hee Kim, Ho-Seong Kim   +6 more
openalex   +1 more source

Psychiatric Comorbidities and Treatment Modalities in Children With Osteogenesis Imperfecta: A Systematic Review of Mental Health

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To evaluate the prevalence of psychiatric signs and symptoms and describe psychotherapeutic and psychopharmacological interventions among children with osteogenesis imperfecta (OI). PRISMA guidelines were followed, and the study was registered in PROSPERO (CRD42024588284). Studies (n = 1419) were identified across five databases.
Julia M. Morales, Camille F. Villar, Beatriz Varman, Gianna M. Colombo, Danqi Li, Sarah J. Sadek, Marie‐Eve Robinson, Chaya N. Murali, Kara Ayers, Jocelyn Gomez, Brendan Lee, V. Reid Sutton, Eric A. Storch, Andrew D. Wiese   +13 more
wiley   +1 more source