Search results for "Kartagener Syndrome"
showing 7 items of 7 documents
An international registry for primary ciliary dyskinesia
2016
Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder leading to chronic upper and lower airway disease. Fundamental data on epidemiology, clinical presentation, course and treatment strategies are lacking in PCD. We have established an international PCD registry to realise an unmet need for an international platform to systematically collect data on incidence, clinical presentation, treatment and disease course.The registry was launched in January 2014. We used internet technology to ensure easy online access using a web browser under www.pcdregistry.eu. Data from 201 patients have been collected so far. The database is comprised of a basic data form including demographic…
Acute appendicitis and situs viscerum inversus: radiological and surgical approach—a systematic review
2023
Abstract Introduction Acute appendicitis is one of the most frequent intra-abdominal diseases requiring emergency surgical consult and treatment. The diagnosis of this condition is based on clinical features and radiologic findings. One-third of patients with acute appendicitis present unusual symptoms. There are several circumstances that may cause misdiagnosis and unclear prognostic prediction. Among these, situs viscerum inversus totalis and midgut malrotation can be challenging scenarios, leading to a delay in treatment, especially when these conditions are unknown. We decided to carry on a systematic review of published cases of acute appendicitis in the context of anatomical anomalies…
Development and validation of a method of cilia motility analysis for the early diagnosis of primary ciliary dyskinesia.
2011
Background: Primary ciliary dyskinesia (PCD) is a clinically uniform entity, but cilia motility and structure can vary between patients, making the diagnosis difficult. The aim of this study was to evaluate the sensitivity and specificity in diagnosing PCD of a system of high-resolution digital high-speed video analysis with proprietary software that we developed for analysis of ciliary motility (Desinsoft-Bio 200). The secondary aim was to correlate nasal ciliary activity with clinical and structural abnormalities in PCD. Material and methods: We analysed nasal mucociliary transport, cilia ultrastructure, nasal ciliary beat frequency and beat pattern studied by high-resolution digital high…
Ultrastructural patterns of primary ciliar dyskinesia syndrome.
2005
Clinical presentation, ciliary ultrastructure, and nasal mucociliary transport by a radioisotopic technique were analyzed in 14 Kartagener syndrome patients. In this study the most common pattern was the absence of outer and inner dynein arms in 57% of cases. Also reported are 14% patients with short inner dynein arms. A total of 29% of the patients showed normal dynein arms. Mucociliary stasis was observed in 13 cases. Primary ciliary dyskinesia syndrome and Kartagener syndrome are clinically homogeneous and morphologically heterogeneous. The authors conclude that a typical clinical presentation with an altered mucociliary transport obtained by radioisotopic technique is diagnostic althoug…
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia.
2012
Background Primary ciliary dyskinesia (PCD) is a congenital hereditary disease affecting 1/20,000–60,000 people that causes chronic sinusitis, bronchiectasis, sinus hypoplasia, secretory otitis media, and low fertility. The complexity and heterogeneity of the disease make diagnosis difficult. Although the genetic origin of PCD is clear, mutations in only five genes have been associated with the disease, and, to date, no disease-causing gene has been identified. Recently, low levels of AK7 gene expression have been linked to PCD. This study was designed to determine the mutational status of the AK7 gene in 31 PCD (17 PCD and 14 Kartagener syndrome diagnosed) patients compared with 40 healthy…
Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia.
2010
Background Adenylate kinase 7 (AK7) mediates the reaction 2ADP ↔ ATP + AMP, providing energy for the beating of cilia. A study recently showed that AK7 expression may be correlated with the primary ciliary dyskinesia (PCD) phenotype in mice. In this study, we characterized AK7 expression in vitro in an air–liquid interface (ALI) model and in middle nasal turbinate biopsy specimens from a cohort of patients with PCD to elucidate whether AK7 expression is correlated with ciliary malfunction. Methods AK7 expression was measured by real-time reverse-transcription polymerase chain reaction and Western blotting. In vitro differentiated nasal human epithelial cell siRNA experiments were performed …
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
2017
By moving essential body fluids and molecules, motile cilia and flagella govern respiratory mucociliary clearance, laterality determination and the transport of gametes and cerebrospinal fluid. Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder frequently caused by non-assembly of dynein arm motors into cilia and flagella axonemes. Before their import into cilia and flagella, multi-subunit axonemal dynein arms are thought to be stabilized and pre-assembled in the cytoplasm through a DNAAF2–DNAAF4–HSP90 complex akin to the HSP90 co-chaperone R2TP complex. Here, we demonstrate that large genomic deletions as well as point mutations involving PIH1D3 are responsible for an X-li…