Results 131 to 140 of about 424,723 (265)

Man With Ear Pain. [PDF]

J Am Coll Emerg Physicians Open
Cabrejas J, Eilbert W.
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

Assessment of Noninvasive Ear Molding: A Classification-Guided Approach. [PDF]

Laryngoscope Investig Otolaryngol
Cui L, Li X, Zhou Y, Xu C, Chen K, Xu J, Li S, Li L, Lu B, Wei Y, Song Q.   +10 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

Type I interferon signaling in hematopoietic cells impairs neutrophil antibacterial function in the middle ear during viral co-infection. [PDF]

Cell Rep Med
Shaw SC, Jamil TL, Heslop G, Fleck JT, Johnson W, Lorenz BP, Drigot Z, Harris JK, Gitomer SA, Clark SE.   +9 more
europepmc   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Effects of different bio-organic fertilizers on agronomic traits, yield, and dry matter accumulation of fresh-eating corn in arid and saline soils of Xinjiang: a single-site field experiment. [PDF]

Front Plant Sci
Cui Y, Tang Y, Du Y, Ding W, Ren H, Jia Y, Shi X, Wang W, Ji S, Ma Y.   +9 more
europepmc   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Leishmania tropica infection of the ear treated with photodynamic therapy

JAAD Case Reports, 2020
Harry Goldin, MD, Scott Kohen, BS, Jerome Taxy, MD, Michael Libman, MD, Thomas Cibull, MD, Kendall Billick, MD, DTM&H   +5 more
doaj   +1 more source

Analysis of complication management strategies after tympanoplasty under otoendoscopy. [PDF]

Front Surg
Huang H, Xie X, Zhong Z, Chen K, Sun K, Chen J, Jiang X, Yu Y, Wang M.   +8 more
europepmc   +1 more source