Results 51 to 60 of about 7,061 (284)

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Anatomical variations of nose and para-nasal sinuses; CT scan review [PDF]

, 2013
Objective: To determine the frequency of anatomic variations on computed tomography scan of para-nasal sinuses.Methods: The retrospective study was conducted at the Aga Khan University Hospital, Karachi, and comprised computed tomography scans of 77 ...
Adeel, Mohammad, Akhter, Shabbir, Arain, Asif, Ikram, Mubasher, Khattak, Yasir Jameel, Rajput, Muhammad Shaheryar Ahmed   +5 more
core   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Unusual Cause of Unilateral Epistaxis: Nasal Leech Infestation

Journal of Nepal Medical Association, 2013
Common causes for unilateral nasal bleeding in adults are benign or malignant tumors and deviated nasal septum. Here we present two cases of recurrent unilateral nasal bleeding due to leech infestation. Though it is not a common cause for nasal bleeding,
Anand Ghimire, A Acharya
doaj   +1 more source

Caudal Septal Division and Batten Graft Application: A Technique to Correct Caudal Septal Deviations

Turkish Archives of Otorhinolaryngology, 2020
Objective: The aim of the study was to evaluate the surgical outcomes in patients who underwent in one session caudal septal division, strip excision and unilateral bony batten graft procedures, a method described for the correction of caudal septal ...
Ceyhun Aksakal
doaj   +1 more source

A STUDY ON CHRONIC OTITIS MEDIA ACTIVE MUCOSAL TYPE WITH SINUSITIS AS FOCAL SEPSIS [PDF]

, 2012
AIM : To establish the role of Sinusitis as Focal sepsis in Chronic Otitis media active mucosal disease, to emphasizethe need of proper diagnostic endoscopic evaluation and improvement in middle ear mucosal disease status afterfunctional endoscopic sinus
Gopalakrishnan, Shankaranarayanan, Kumar, Sathish   +1 more
core   +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

Treatment timing and multidisciplinary approach in Apert syndrome [PDF]

, 2015
Apert syndrome is a rare congenital disorder characterized by craniosynostosis, midface hypoplasia and symmetric syndactyly of hands and feet. Abnormalities associated with Apert syndrome include premature fusion of coronal sutures system (coronal ...
CAPORLINGUA, ALESSANDRO, DI GIORGIO, GIANNI, FADDA, Maria Teresa, IERARDO, GAETANO, LADNIAK, BARBARA, RAPONI, INGRID, SILVESTRI, ALESSANDRO   +6 more
core   +2 more sources

Efficacy of Local Bupivacaine Injection of Postoperative Pain in Endoscopic Sinus Surgery

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Regional anesthesia is effective in alleviating postoperative pain and reducing the requirement for systemic pain medications. However, optimal postoperative pain management in endoscopic sinus surgery (ESS) remains challenging.
Wiracha Leewannapasai, Navarat Tangbumrungtham, Kanokporn Sarsitthithum, Kangsadarn Tanjararak, Boonsam Roongpuvapaht   +4 more
wiley   +1 more source

Correlation between Subjective Nasal Patency and Intranasal Airflow Distribution [PDF]

, 2017
Objectives (1) Analyze the relationship between intranasal airflow distribution and subjective nasal patency in healthy and nasal airway obstruction (NAO) cohorts using computational fluid dynamics (CFD).
Borojeni, Azadeh A.T,, Casey, Kevin P., Garcia, Guilherme J.M., Koenig, Lisa J., Rhee, John S.   +4 more
core   +1 more source