Results 211 to 220 of about 762,616 (316)

Analysis of the clinical features of neurocristopathy-related hearing loss and how these relate to outcomes after cochlear implantation. [PDF]

Sci Rep
Ni K, Fang J, Fan W, Chen F, Lu W, Li X.
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

Auditory Outcomes in Patients Undergoing Orthognathic Surgery: An Analysis of Middle Ear Disease. [PDF]

Otolaryngol Head Neck Surg
Hughes SE, Mehrabi S, Carvette G, Mehta AH, Stucken EZ.   +4 more
europepmc   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Effects of inner ear abnormalities on middle ear mechanics: Findings from adults with MD and LVAS. [PDF]

Braz J Otorhinolaryngol
Jiang W, Mu Y, Lin H, Shen C, Zhang H, Zhao F, Qiao Y, Li X, Liu W.   +8 more
europepmc   +1 more source

External Validation of a Multivariable Diagnostic Prediction Model for Acute Invasive Fungal Rhinosinusitis in Tertiary Care Settings

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Prompt detection and intervention are crucial for improving outcomes in acute invasive fungal rhinosinusitis (AIFS). Diagnostic prediction models assist in risk‐stratification, but their accuracy requires testing through external validation.
Aviv Spillinger, Johanna Ellefson, Qiuyu Yang, Linda X. Yin, Janalee K. Stokken, Thomas Pasic, Ian J. Koszewski, Sandra Y. Lin   +7 more
wiley   +1 more source

Auricular Capillary Hemangioma: A Rare Case Report. [PDF]

Clin Case Rep
Asadi M, Ehsani A, Mohsenifar Z.
europepmc   +1 more source

Factor Analysis‐Based Quantitative Endotyping Improves Associations With CRS Cross‐Sectional and Longitudinal Outcomes

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) is a heterogeneous inflammatory disease characterized by persistent sinonasal inflammation. There is increasing interest in endotype‐based classification, which categorizes CRS based on underlying inflammatory pathways.
Brooke N. Gleason, Zhidi Luo, Aditi Agarwal, Siyuan Dong, Regan L. Harmon, Junqin Bai, Chun‐Kang Liao, Julia Huang, David B. Conley, Kevin C. Welch, Robert C. Kern, Stephanie S. Smith, Anju T. Peters, Whitney S. Stevens, Atsushi Kato, Lutfiyya N. Muhammad, Bruce K. Tan   +16 more
wiley   +1 more source

Adult Case of Congenital Intratympanic Membrane Cholesteatoma. [PDF]

Clin Case Rep
Fukui J, Fukumoto I, Koshizuka K, Iinuma T, Yamasaki K, Yonekura S, Nemoto T, Hanazawa T.   +7 more
europepmc   +1 more source