Results 61 to 70 of about 54,359 (360)

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

Impressive Nasal Septum Regeneration after Cord Blood Platelet Gel (CBPG) in Extreme Premature Neonate with Non-Invasive Ventilation: A Case Report

Children, 2022
Background: We evaluated the efficacy of Cord Blood Platelet Gel (CBPG) in the regenerative reconstruction of the nasal septal tissue of a preterm infant undergoing non-invasive ventilation.
Raffaele Falsaperla, Giulia Marialidia Biondi, Milena Motta, Pasquale Gallerano, Giusi Tancredi, Piero Pavone, Martino Ruggieri   +6 more
doaj   +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

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source

Murine nasal septa for respiratory epithelial air-liquid interface cultures

BioTechniques, 2007
Air-liquid interface models using murine tracheal respiratory epithelium have revolutionized the in vitro study of pulmonary diseases. This model is often impractical because of the small number of respiratory epithelial cells that can be isolated from ...
Marcelo B. Antunes, Bradford A. Woodworth, Geeta Bhargave, Guoxiang Xiong, Jorge L. Aguilar, Adam J. Ratner, James L. Kreindler, Ronald C. Rubenstein, Noam A. Cohen   +8 more
doaj   +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

Sulfur dioxide exposure reduces the quantity of CD19+ cells and causes nasal epithelial injury in rats

Journal of Occupational Medicine and Toxicology, 2018
Background Reactive airway dysfunction syndrome (RADS), also called irritant-induced asthma, is a type of occupational asthma that can occur within a very short period of latency.
Ruonan Chai, Hua Xie, Junli Zhang, Zhuang Ma   +3 more
doaj   +1 more source

Malignant Melanoma of Nose and Paranasal Sinuses: 2 Case Reports [PDF]

, 2010
Malignant melanoma is one of the rare and highly aggressive diseases of the sinonasal cavity. High index of suspicion is required for diagnosis as the patient usually presents with non specific signs and symptoms.
Bhagat, S, Bist, SS, Gupta, N, Singh, R, Varshney, S   +4 more
core   +1 more source

Incidental finding of lymphoma after septoplasty. [PDF]

, 2016
IntroductionSeptoplasty, or surgical correction of the deviated septum, is an elective, routinely performed rhinologic procedure to address nasal airway obstruction.
Bhuta, Sunita M, Kedeshian, Paul A, Kuan, Edward C, Palma Diaz, Miguel Fernando, Suh, Jeffrey D, Tajudeen, Bobby A   +5 more
core   +2 more sources

Electrical Stimulation of Trigeminal Nerve at the Anterior Nasal Septum in Healthy Individuals and Patients With Olfactory Dysfunction

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background The intranasal trigeminal system contributes to the sense of smell. Its integrity in olfactory dysfunction (OD) may be crucial for future treatments. This study assessed trigeminal sensitivity in healthy individuals and patients with OD of different etiologies using electrical stimulation of the nasal mucosa.
Konstantinos Garefis, Susanne Weise, Pauline Hanslik, Coralie Mignot, Halina B. Stanley, Maxime Fieux, Camille Ferdenzi, Evangelia Tsakiropoulou, Clémentine Lipp, Arnaud Bertsch, Moustafa Bensafi, Iordanis Konstantinidis, Thomas Hummel   +12 more
wiley   +1 more source