Results 71 to 80 of about 9,533 (204)

Primary ciliary dyskinesiatwo cases reports

Journal of Mazandaran University of Medical Sciences, 2009
(Received 22 December, 2009 ; Accepted 10 March, 2010)AbstractPrimary ciliary dyskinesia and Kartagener's syndrome are rare genetic disorders. There is a ciliary dysfunction in these disorders that cause recurrent infections in respiratory and sinus ...
Mohammad Sadegh Rezaee1, Iraj Mohammadzadeh2, Mohammadjafar Saffar1, Javad Ghaffari1   +3 more
doaj  

Kartagener syndrome, current data on a classical disease. Case report.

Case Reports, 2018
Introduction: This article addresses the general aspects (pathophysiology, embryology, clinical presentation and prognosis) of the Kartagener syndrome (KS).
Sandra Viviana Gómez-Correa, Iván David Ruiz-Ángel, Luis Carlos Salazar-Díaz   +2 more
doaj   +1 more source

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, Volume 104, Issue 5, Page 510-516, August 2026.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source

Primary Ciliary Dyskinesia in the Dog

Journal of Veterinary Internal Medicine, 1987
Abstarct Electron microscopy was used to diagnose primary ciliary dyskinesia in a litter of English pointer dogs and in a golden retriever dog. A technique of membrane solubilization, fixation, and negative staining with glutaraldehyde tannic acid identified abnormally constructed central and B microtubules in respiratory cilia from ...
W B, Morrison, N J, Wilsman, L E, Fox, C E, Farnum   +3 more
openaire   +2 more sources

Primary Ciliary Dyskinesia : A Case Presentation and A Current Review

Siriraj Medical Journal, 2020
We present a 14 year-old girl with a history of chronic rhinorrhoea and nasal obstruction. Physical findings showed huge nasal polyp with broadening of the nasal bridge, perforation of the left ear drum and a right middle ear effusion.
Weerachai Tantinikorn, Kitirat Ungkanont, Vanneet Khawcharoenporn   +2 more
doaj  

Nitric oxide in primary ciliary dyskinesia. [PDF]

, 2012
Nitric oxide is continually synthesized in the respiratory epithelium and is upregulated in response to infection or inflammation. Primary ciliary dyskinesia is characterized by recurrent sinopulmonary infections due to impaired mucociliary clearance ...
Lackie, Peter M., Jackson, Claire L., Lucas, Jane S., Walker, Woolf T., Hogg, Claire   +4 more
core   +1 more source

Situs Inversus Totalis and Severe Early‐Onset Developmental Epileptic Encephalopathy in a Child With a Homozygous CFAP52 Mutation: A Case Report

Clinical Case Reports, Volume 14, Issue 7, July 2026.
Serial sagittal T1‐weighted MR images demonstrating persistent thinning of the corpus callosum. (A) Initial MRI at 19 months of age shows diffuse thinning of the corpus callosum involving the body and splenium. (B) Follow‐up MRI one year later demonstrates stable appearance without interval progression, consistent with corpus callosal hypoplasia ...
Anwar Abu Hetta, Lina Abughaboosh, Jenan Al‐Qasrawi, Balqees Amro, Mayar Alshaer   +4 more
wiley   +1 more source

Ex Vivo LRRK2 Activation in Asian G2385R and R1628P Variant Carriers and Idiopathic Parkinson's Disease

Movement Disorders, Volume 41, Issue 7, Page 1750-1761, July 2026.
Abstract Background Leucine‐rich repeat kinase 2 (LRRK2) kinase inhibition is a promising therapeutic strategy for Parkinson's disease (PD), but the functional impact of Asian‐prevalent LRRK2 p.G2385R and p.R1628P variants remains unclear. Robust patient stratification and target engagement markers are needed for global LRRK2‐targeted trials ...
Tzi Shin Toh, Lei Cheng Lit, Shen‐Yang Lim, Jia Wei Hor, Choey Yee Lew, Anis Nadhirah Khairul Anuar, Yi Wen Tay, Kirsten Black, Jia Lun Lim, Jannah Zulkefli, Kai Shi Lim, Hans Xing Ding, Shalini Padmanabhan, Azlina Ahmad‐Annuar, Eng King Tan, Dario R. Alessi, Esther Sammler, Ai Huey Tan   +17 more
wiley   +1 more source

Modern Approaches to the Diagnosis and Management of Children With Primary Ciliary Dyskinesia

Педиатрическая фармакология, 2017
The article presents the most modern positions of healthcare delivery for children with primary ciliary dyskinesia. Symptoms of this pathology in clinical practice vary that is conditioned by genetic heterogeneity of the disease.
A. A. Baranov, L. S. Namazova-Baranova, E. A. Vishneva, L. R. Selimzyanova, O. I. Simonova, E. V. Sereda, N. N. Rozinova, E. N. Tzygina, L. K. Katosova, A. V. Lazareva, Yu. V. Gorinova, O. V. Kustova   +11 more
doaj   +1 more source

Body Region Dysmorphology Is Predictive of Genetic Diagnoses in Infants With Congenital Heart Disease

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
This work demonstrates how recognition of body region dysmorphology patterns improves prediction of genetic disorders causing congenital heart disease (CHD). Findings highlight possible abnormal developmental pathways underlying CHD types and craniofacial development.
Benjamin M. Helm, Leah Wetherill, Benjamin J. Landis, Stephanie M. Ware   +3 more
wiley   +1 more source