Results 141 to 150 of about 13,880 (330)
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
Transverse nasal line associated with congenital persistent milia [PDF]
, 2000 Altmeyer, Peter +2 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes +3 more
wiley +1 more source
Primary Cutaneous Anaplastic Large Cell Lymphoma of the Nasal Dorsum and Nasal Tip. [PDF]
Cureus, 2022 Michali MC +4 more
europepmc +1 more source
Developmental nasal midline masses in children: neuroradiological evaluation [PDF]
, 2018 Developmental nasal midline masses in children are rare lesions. Neuroimaging is essential to characterise these lesions, to determine the exact location of the lesion and most importantly to exclude a possible intracranial extension or connection.
Holzmann, David +5 more
core
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Objective In the last two decades, transnasal endoscopic surgery (TES) has become pivotal in the management of sinonasal tumors. This approach involves a multiblock tumor resection, adding complexity to the interpretation of surgical margins after pathological examination.
Piergiorgio Gaudioso +14 more
wiley +1 more source
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background Chronic rhinosinusitis with nasal polyps (CRSwNP) is a type 2 inflammatory disease often associated with asthma. The global airway hypothesis suggests bidirectional inflammatory interactions between upper and lower airways. Mepolizumab, an anti–IL‐5 therapy, treats conditions systemically, while functional endoscopic sinus surgery ...
Jens Tidemandsen +9 more
wiley +1 more source
Some Internal and External Parasites of the Redwinged Blackbird, Agelaius Phoeniceus Phoeniceus L., from Central Ohio, Including Descriptions of Three New Feather Mites [PDF]
, 1965 Author Institution: Department of Zoology and Entomology, The Ohio State University, Columbus 10From sixty-one redwinged blackbirds that were collected and examined between 1962 and 1963, eighteen species of parasites were recovered.
Spory, Gerhard R.
core
Porous high-density polyethylene implants (Medpor) for nasal dorsum augmentation [PDF]
, 2000 Julie Karnes +4 more
openalex +1 more source
An in vivo assay for osteoclast activity using mouse calvaria
Animal Models and Experimental Medicine, EarlyView.This study describes a novel method for measuring osteoclast‐mediated bone resorption in vivo using a mouse model. Localized injection of RANKL in a basement membrane matrix above the cranium induced osteoclast‐mediated bone resorption. Utilizing micro‐computed tomography and a semiautomated three‐dimensional analysis program, osteoclast resorption pit
Christopher Grieg +2 more
wiley +1 more source