Results 201 to 210 of about 164,845 (267)

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain‐of‐function of KATP‐channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little ...
Lotte Kleinendorst, Melanie N. S. Molegraaf, Dorothy K. Grange, Rico N. P. M. Rinkel, Mieke M. van Haelst   +4 more
wiley   +1 more source

Efficacy and Safety of Intratympanic Botulinum Toxin Injection on Middle Ear Myoclonic Tinnitus. [PDF]

Laryngoscope
Lim JH, Han D, Velasco GC, Seo YJ, Han JS, Park JM, Seo JH, Park SY, Park SN.   +8 more
europepmc   +1 more source

NOTE ON THE EFFECTS OF INFLUENZA UPON THE MIDDLE EAR.

, 1892
W. B. Dalby
openalex   +2 more sources

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Higher levels of neutrophil extracellular traps in mucoid middle ear effusion obtained from otitis media with effusion in children. [PDF]

Ann Med
Guo L, Li T, Duan Q, Duan Y, Liu W, Ma N, Liu S, Wang X, Zhang S, Tian E, Ni X, Zhang J.   +11 more
europepmc   +1 more source

THE RELATION OF THE MIDDLE EAR PNEUMATISATION AND THE CATARRHAL OTITIS MEDIA

, 1958
T. GOTO, T. KAIEDA
openalex   +2 more sources

Cadherin‐26 Facilitates Transepithelial Migration of Eosinophils in Eosinophilic Chronic Rhinosinusitis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Eosinophilic chronic rhinosinusitis with nasal polyps (eCRSwNP) is characterized by persistent sinonasal inflammation and marked eosinophilic infiltration. Although the relationship between eosinophils and NP formation has been extensively studied, the mechanisms governing eosinophil transepithelial migration into the nasal mucosa ...
Yeong‐In Jo, Jee Won Moon, Joo‐Hoo Park, Hwa Eun Yang, Subin Cho, Hyeongguk Son, Hyun‐Woo Yang, Il‐Ho Park   +7 more
wiley   +1 more source

Efficacy of video-otoscope-guided septum bulla fenestration and middle ear lavage for treating otitis media in cats. [PDF]

J Feline Med Surg
Osumi T, Onishi I, Baba Y.
europepmc   +1 more source

Machine Learning‐Enhanced Clinical Decision Support for Diagnosing Sinusitis With Nasal Endoscopy

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Sinusitis is a prevalent disease for which nasal endoscopy (NE) is an optimal diagnostic modality. However, NE accuracy is limited by inter‐operator variability in landmark identification and localization of mucus that is necessary for sinusitis diagnosis. We sought to develop a novel multi‐class machine learning (ML) framework that
Dipesh Gyawali, Thomas Mundy, Majid Hosseini, Morteza Bodaghi, Akio Fujiwara, Sejal Shyam Bhatia, Kayla Baker, Elena Bartolone, Dhara Patel, Henry Chu, Raju Gottumukkala, Jonathan Bidwell, Edward D. McCoul   +12 more
wiley   +1 more source