Figure - available from: International Archives of Otolaryngology
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Images suggestive of: ( ) Left frontal sinus fungal ball. ( ) Left ethmoid sinus osteoma (arrow). ( ) Left maxillary sinus antrochoanal polyp (*) and a right maxillary sinus cyst (arrow). ( ) Left ethmoid sinus mucocele (*).
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Introduction Primary ciliary dyskinesia is a rare inherited disease that results in a malfunction of mucociliary clearance and sinonasal complaints. Aplasia/hypoplasia of the frontal and sphenoid sinuses has been described as more frequent in this population. However, to date, no studies have provided a detailed description of computed tomography f...
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... Bone erosion in AFRS is a well-known condition that frequently affects the orbit and the base of the skull. It occurs anywhere from 20 to 90% of the time depending on the location (13) . Bone remolding and pressure necrosis are the causes of bone degradation. ...
Objective: Bone erosion on a CT scan may be an indication of osteoarthritis, rheumatoid arthritis, or bone infections, among other diseases. Tumors and other bone conditions may also be to blame. A doctor would need to analyze the CT scan and maybe do other tests or imaging investigations to identify the source of bone degradation. The study's goal is to examine the prevalence and locations of bone erosion on computed tomography scans in Pakistani patients with allergic fungus rhinosinusitis. Methods: This retrospective observational study was conducted at The study was conducted in PAC Hospital Kamra, Pakistan, between January 2013 and December 2022. 85 of the patients who had bone erosions on a computed tomography scan out of a total of 230 instances of allergic fungal rhinosinusitis were included in the research. Evaluation of bone erosion in various paranasal sinuses and their sub-sites. Patients were categorized into three groups based on how much bone erosion they had: mild, moderate, and severe. Mild instances were those with erosion at a single site, moderate cases had erosion at two subsites, and severe cases had erosion at more than two subsites. Results: In 85 (36.9%) of the patients, bone erosion was discovered after a thorough analysis of the computed tomography scan of the paranasal sinuses. The average impacted age was 23.96 ± 12.71. There were 33 women and 52 men, or 61.1% of the total. The ethmoid sinus was the sinus that had bone erosions the most often. Frontal sinus 24 (16.6%), maxillary sinus 55 (38.19%), sphenoid sinus 27 (18.75%), and maxillary sinus 38 (26.38%) are listed in that order. Out of 85 patients, 15 (17.6%) had a severe illness, 22 (25.8%) had moderate disease, and 48 (56.1%) had mild disease. Implication: The radiological evaluation of illness, regardless of the method and scoring system employed, is crucial because it allows the otolaryngologist and the radiologist to stratify the severity of the disease in instances of AFRS and aids in clinical evaluation and the avoidance of problems Conclusions: Bone erosion occurs frequently in allergic fungal rhinosinusitis. The ethmoid sinus is the most frequently affected paranasal sinus in terms of bone erosion, and computerized tomography (CT) scan is a crucial and efficient inquiry in detecting these erosions. Keywords: rhinosinusitis, bone erosion, sinusitis, radiological evaluation
Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, motile ciliopathy, characterized by neonatal respiratory distress, recurrent upper and lower respiratory tract infections, subfertility, and laterality defects. Diagnosis relies on a combination of tests for confirmation, including nasal nitric oxide (nNO) measurements, high-speed videomicroscopy analysis (HSVMA), immunofluorescent staining, axonemal ultrastructure analysis via transmission electron microscopy (TEM), and genetic testing. Notably, there is no single gold standard confirmatory or exclusionary test. Currently, 54 causative genes involved in cilia assembly, structure, and function have been linked to PCD; this rare disease has a spectrum of clinical manifestations and emerging genotype–phenotype relationships. In this review, we provide an overview of the structure and function of motile cilia, the emerging genetics and pathophysiology of this rare disease, as well as clinical features associated with motile ciliopathies, novel diagnostic tools, and updates on genotype–phenotype relationships in PCD.
Primary ciliary dyskinesia (PCD) is a rare genetic disorder that leads to chronic inflammatory damage to the airways and auditory organs. This article presents current information and a study aimed at investigating parallels between the course of PCD and clinical and genetic variant of the disease, which contributes to a timely diagnosis and enables personalized treatment approach.
The aim of the study was to identify phenotypic characteristics and chronological patterns of PCD course depending on the genotype.
Methods. The study was conducted at the Veltischev Research Clinical Institute of Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University (Pirogov Medical University), Ministry of Health of Russia. The study included children with PCD who underwent next generation sequencing (NGS) of the exome.
Results. Significant differences were found in the course of PCD based on clinical and genetic characteristics. Children with defects in the genes encoding central pair proteins are characterized by an earlier onset of daily productive cough and recurrent respiratory infections. A similar pattern is typical for patients with defects in the genes encoding the cilia assembly proteins. The first episode of respiratory infection occurs later in patients with defects in the genes encoding dynein handle proteins. Patients who do not have defects in PCD-associated genes are characterized by a late onset of persistent difficulty in nasal breathing, productive cough and respiratory diseases.
Conclusion. Identification of clinical and genetic variants of PCD allows prediction of chronological features of the course of the disease.
Background and objectives:
Primary ciliary dyskinesia (PCD, ORPHA:244) is a group of rare genetic disorders characterized by dysfunction of motile cilia. It is phenotypically and genetically heterogeneous, with more than 50 genes involved. Thanks to genetic, clinical, and functional characterization, immense progress has been made in the understanding and diagnosis of PCD. Nevertheless, it is underdiagnosed due to the heterogeneous phenotype and complexity of diagnosis. This review aims to help clinicians navigate this heterogeneous group of diseases. Here, we describe the broad spectrum of phenotypes associated with PCD and address pitfalls and difficult-to-interpret findings to avoid misinterpretation.
Method:
Review of literature CONCLUSION: PCD diagnosis is complex and requires integration of history, clinical picture, imaging, functional and structural analysis of motile cilia and, if available, genetic analysis to make a definitive diagnosis. It is critical that we continue to expand our knowledge of this group of rare disorders to improve the identification of PCD patients and to develop evidence-based therapeutic approaches.
