Results 51 to 60 of about 16,014 (252)

LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects. [PDF]

PLoS ONE, 2013
Despite recent progress in defining the ciliome, the genetic basis for many cases of primary ciliary dyskinesia (PCD) remains elusive. We evaluated five children from two unrelated, consanguineous Palestinian families who had PCD with typical clinical ...
Amjad Horani, Thomas W Ferkol, David Shoseyov, Mollie G Wasserman, Yifat S Oren, Batsheva Kerem, Israel Amirav, Malena Cohen-Cymberknoh, Susan K Dutcher, Steven L Brody, Orly Elpeleg, Eitan Kerem   +11 more
doaj   +1 more source

DOCK8 deficiency presenting with sclerosing cholangitis, raised immunoglobulin E, and bronchiectasis: A fatal pediatric case report

JPGN Reports, EarlyView.
Abstract Dedicator of cytokinesis 8 (DOCK8) deficiency is a rare autosomal recessive primary immunodeficiency. Patients with DOCK8 deficiency typically present at early age with allergic manifestations, cutaneous and respiratory infections, raised immunoglobulin E, and they have an increased risk of developing malignancies.
Natalia Nedelkopoulou, Kelechi Ugonna, Stephen Hughes, Sanjay Rajwal, Marumbo Mtegha   +4 more
wiley   +1 more source

Primary Ciliary Dyskinesia in Children

Педиатрическая фармакология, 2018
The article presents current approaches to medical care delivery in children with primary ciliary dyskinesia. The genetic heterogeneity of the disease causes the variability of pathological symptoms in clinical practice.
Alexander A. Baranov, Leyla S. Namazova-Baranova, Elena A. Vishneva, Liliya R. Selimzyanova, Maiya D. Bakradze, Elena N. Tsygina, Anna V. Lazareva, Lyudmila K. Katosova, Yuliya V. Gorinova, Оlga V. Kustova   +9 more
doaj   +1 more source

Primary Ciliary Dyskinesia and Hydrocephalus With Aqueductal Stenosis [PDF]

, 2011
We report 1 female patient with situs inversus, dextrocardia, a complex heart malformation, hydrocephalus due to aqueductal stenosis, and abnormal ultrastructure of the respiratory epithelium cilia.
Lopes, P, Silva, R, Vieira, JP
core  

Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects. [PDF]

, 2013
Primary ciliary dyskinesia (PCD) is an inherited chronic respiratory obstructive disease with randomized body laterality and infertility, resulting from cilia and sperm dysmotility.
Ahmed, Alexandros Onoufriadis, Amelia Shoemark, Andrew Rutman, Antony, Austin-Tse, Barbato, Biju Thomas, Brokaw, Bukowy-Bieryllo, Castleman, Chilvers, Chodhari, Christopher O'Callaghan, Christopher Williams, Claire Hogg, Daniels, Eddie M.K. Chung, Fiedler, Fliegauf, Florence Bolard, Gherman, Gina Jimenez, Hannah M. Mitchison, Heuser, Hirokawa, Horani, Hou, Huang, Hui Liu, Im, Jean-Jacques Lafitte, Jerber, Juliet Scully, Kennedy, King, Knowles, Kohno, Kott, Letunic, Li, Li, McClintock, McKenna, Meeks, Mellisa Dixon, Miriam Schmidts, Mitali Patel, Mitchell, Moore, Nonaka, Olbrich, Papon, Patrice Bouvagnet, Philip L. Beales, Pinfen Yang, Qin, Richard D. Emes, Robert A. Hirst, Roy, Rutland, Sherry, Shetty, Shoemark, Shoemark, Smith, Stannard, Tarkar, Thomas Burgoyne, Tokuhiro, Wallingford, Wang, Wei, Yang, Yang, Zariwala, Zietkiewicz   +76 more
core   +6 more sources

Case series: Joubert syndrome and eosinophilic esophagitis

JPGN Reports, EarlyView.
Abstract Joubert syndrome (JS) is a rare genetic disorder characterized by developmental abnormalities, particularly in the brainstem and cerebellar vermis, alongside multisystem manifestations such as kidney and liver anomalies, polydactyly, cleft lip or palate, and tongue defects.
Jonathon Schening, Stephanie Leon‐Paredes, Eric Chiou, Vibha Szafron, Anthony Olive, Sara Anvari   +5 more
wiley   +1 more source

COVID-19 Vaccinations: Perceptions and Behaviours in People with Primary Ciliary Dyskinesia

Vaccines, 2021
Primary ciliary dyskinesia (PCD) is a rare genetic disease that causes recurrent respiratory infections. People with PCD may be at higher risk of severe coronavirus disease 2019 (COVID-19), and therefore vaccination against severe acute respiratory ...
Eva S. L. Pedersen, Maria Christina Mallet, Yin Ting Lam, Sara Bellu, Isabelle Cizeau, Fiona Copeland, Trini Lopez Fernandez, Michele Manion, Amanda L. Harris, Jane S. Lucas, Francesca Santamaria, Myrofora Goutaki, Claudia E. Kuehni, COVID-PCD Patient Advisory Group   +13 more
doaj   +1 more source

Impact of Obesity on the Structured Histopathology of Chronic Rhinosinusitis Patients

The Laryngoscope, EarlyView.
ABSTRACT Objectives Obesity is an established risk factor for asthma, which shares common inflammatory pathways with chronic rhinosinusitis (CRS). However, the link between obesity and CRS remains poorly understood. By identifying trends in the structured histopathology (SHP) of obese patients with CRS, we aim to better understand how changes in the ...
Daniel X. Ma, Sushanth Neerumalla, Ali Baird, Russell A. Whitehead, Peter Filip, Bobby A. Tajudeen, Pete S. Batra, Peter Papagiannopoulos   +7 more
wiley   +1 more source

Crazy‐paving patterns as rare radiological manifestations of pulmonary cryptococcosis: a case report

BMC Pulmonary Medicine, 2021
Background Crazy-paving patterns are rarely reported as radiological manifestations of pulmonary cryptococcosis. Case presentation Herein, we presented a very rare case of a crazy-paving pattern as a radiological manifestation of pulmonary cryptococcosis
He Yu, Kaige Wang, Dong Huang, Lu Wen, Ying Zhang, Ye Wang, Yongjiang Tang, Jiajia Dong, Zongan Liang   +8 more
doaj   +1 more source

Elexacaftor–Tezacaftor–Ivacaftor Reduces Revision Sinus Surgery in People With Cystic Fibrosis

The Laryngoscope, EarlyView.
Elexacaftor–tezacaftor–ivacaftor (ETI) was associated with a significant decrease in the frequency and rate of endoscopic sinus surgeries in patients with cystic fibrosis. These findings suggest an improvement in CF‐related chronic rhinosinusitis outcomes following ETI and may influence future CF treatment decisions.
Amy Lin, Makanko Komara, Isaac Kistler, Zheng Hong Tan, Meredith Lind, Kavitha Kotha, Tendy Chiang   +6 more
wiley   +1 more source