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Secondary Ciliary Dyskinesia

SCD


Presentation

  • Presents important “take home concepts within each chapter to help you recall clinical pearls. Includes the most need-to-know basic science, focusing on providing clear implications for patient care.[books.google.de]
  • In 1/8 of the samples severe SCD ( 25%) was present. The most frequently encountered SCD abnormality was the membrane bleb, followed by the various peripheral microtubular abnormalities.[ncbi.nlm.nih.gov]
  • The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
Inflammation
  • Alterations encountered in secondary ciliary dyskinesia (SCD) caused by inflammation often complicate the diagnostic workup.[ncbi.nlm.nih.gov]
  • Cilia infection inflammation ultrastructure Cite this Apa BIBTEX Harvard Standard RIS Vancouver @article{57a3e6a20c284ddb8c7d4cf6ff96605e, title "Secondary defects detected by transmission electron microscopy in primary ciliary dyskinesia diagnostics"[discovery.dundee.ac.uk]
  • In these 37 subjects, TEM evaluation clearly showed non-specific abnormalities compatible with chronic inflammation (prevalence of swollen cilia and compound cilia).[thorax.bmj.com]
  • Additionally the exhaled gas nitric oxide (NO), a non-invasive marker of some types of airway inflammation, has been suggested as a useful screening test for PCD. The aims of this thesis were to: 1.[researchspace.auckland.ac.nz]
  • ., infection, inflammation). Cilia are typically found in the sinuses, ears, and lung and on sperm.[unboundmedicine.com]
Physician
  • […] coverage of normal childhood growth and development, as well as the diagnosis, management, and prevention of common pediatric diseases and disorders, make this an ideal medical reference book for students, pediatric residents, nurse practitioners, and physician[books.google.com]
  • This book will be an invaluable resource for physicians, dentists, and other health professionals and for basic scientists interested in developmental processes and genetic perturbations that affect them.[books.google.de]
  • Whereas some parents, and even some physicians, dismiss this as just a “snotty-nosed kid,” this is not normal . It can simply be a viral URI or “cold”. But a “cold” that lasts for more than 2 weeks is a sign of rhinosinusitis.[boogordoctor.com]
  • This includes assessment by a PCD respiratory physician, ear, nose and throat physician with an interest in PCD, PCD physiotherapist, PCD nurse and audiologist. A personalised management plan is revised in discussion with the family.[journals.rcni.com]
  • Psychological Issues Physicians who take care of children with PCD should take into valuable account the psychosocial impact of the disease.[frontiersin.org]
Recurrent Infection
  • Immunodeficiency states with recurrent infections - IgG, IgA deficiencies, abnormalities of leukocyte function, conditions affecting primary antibody production.[patient.info]
  • Primary ciliary dyskinesia ( PCD, MIM 242650) is characterized by recurrent infections of the respiratory tract due to reduced mucociliary clearance and by sperm immobility [1].[wikigenes.org]
  • The orientation of cilia in the patients with recurrent infection was almost parallel; ciliary deviation in this micrograph is 8.7 degrees.[nejm.org]
  • It is a rare and difficult to diagnose disease, 1 2 with morbidity related to recurrent infections of the respiratory tract.[thorax.bmj.com]
  • infections, and, consequently, bronchiectasis.[ncbi.nlm.nih.gov]
Recurrent Sinusitis
  • Studying 27 such patients, we have found daily nose blowings since birth, chronic-recurrent sinusitis, and chronic secretory otitis media highly characteristic features.[ncbi.nlm.nih.gov]
  • Diagnosis of recurrent otitis was established in 4 patients (28, 6%), recurrent sinusitis in 9 (64, 3%), chronic productive cough in 9 (64, 3%), and bronchitis in 8 (57%).[bib.irb.hr]
  • The clinical consequences of the immotile cilia syndrome include chronic cough and expectoration, bronchiectasis, chronic rhinitis and nasal polyposis, chronic or recurrent sinusitis, and often an agenesis of the frontal sinuses.[ommbid.mhmedical.com]
  • Many children experience recurrent sinusitis. In the ears, mucociliary clearance in the eustachian tubes is responsible for clearing the middle ear. Children experience recurrent otitis media, glue ear and hearing loss.[journals.rcni.com]
Fever
  • […] influences on, the respiratory system during childhood, as well as the diagnosis and management of both common (ie, wheezing infant, cystic fibrosis, tuberculosis) and less common (ie, SARS, chest tumors, collagen vascular diseases, Familial Mediterranean Fever[books.google.de]
  • Pneumonia was defined as the presence of fever and acute respiratory symptoms with crackles on auscultation. Evidence of concomitant parenchymal infiltrates on chest radiography was required on at least two occasions.[thorax.bmj.com]
  • Fever is not a reliable symptom in many PCD individuals. We recommend antibiotics if patients note an increase in sputum quantity or a change in sputum viscosity or color.[ciliajournal.biomedcentral.com]
Cough
  • CHAPTER 57 1163 Orthodontic Problems in Children 1183 Inflammatory Disease of the Mouth 1199 CHAPTER 62 1223 Otolaryngologic Manifestations of 1241 Diseases of the Salivary Glands 1251 Physiology of the Larynx Airways 1251 Congenital Malformations of tho Cough[books.google.com]
  • Situs inversus, respiratory distress, rhinitis, “wet” cough and bronchiectasis were significantly more seen in PCD (p CONCLUSIONS Classical PCD, easy to diagnose by TEM, should be able to be identified in an early, in order to preserve lung function.[erj.ersjournals.com]
  • The important sign is that of a persistent “wet” sounding cough. Especially if such a cough persists for more than 8 weeks or symptoms return when antibiotic treatment is stopped.[czytelniamedyczna.pl]
  • Bronchiectasis “tram tracking” – parallel narrow lines radiating from hilum, cystic spaces, honeycomb like structures chronic cough, purulent sputum (but have dry cough), hemoptysis Chest Radiology Pericardial effusion Features are those of nonspecific[pinterest.co.uk]
Rhinitis
  • No increase in ultrastructural ciliary abnormalities has been found in a variety of respiratory disorders: smoking, asthma and allergic rhinitis, chronic rhinitis and sinusitis, chronic bronchitis, cystic fibrosis, and lung carcinoma.[ncbi.nlm.nih.gov]
  • CHAPTER 42 979 Sylvan E Stool M D Katherine W L Vig 992 Rhinitis and Acute and Chronic Sinusitis 995 Surgical Management of Chronic 1013 Foreign Bodies of the Nose 1032 CHAPTER 48 1054 Anne ChunHui Tsai M D M Sc F A A P 1058 CHAPTER 74 1066 SECTION IV[books.google.com]
  • Situs inversus, respiratory distress, rhinitis, “wet” cough and bronchiectasis were significantly more seen in PCD (p CONCLUSIONS Classical PCD, easy to diagnose by TEM, should be able to be identified in an early, in order to preserve lung function.[erj.ersjournals.com]
Common Cold
  • The frequency of common colds was not increased, and most patients did not suffer from repeated episodes of acute purulent otitis media.[ncbi.nlm.nih.gov]
  • The most common side effects include headache; upper respiratory tract infection (common cold), which includes sore throat, nasal or sinus congestion, and runny nose; stomach (abdominal) pain; diarrhea; rash; nausea; and dizziness.[businesswire.com]
Respiratory Disorders
  • No increase in ultrastructural ciliary abnormalities has been found in a variety of respiratory disorders: smoking, asthma and allergic rhinitis, chronic rhinitis and sinusitis, chronic bronchitis, cystic fibrosis, and lung carcinoma.[ncbi.nlm.nih.gov]
Vascular Disease
Stroke
  • Take advantage of a wealth of images that capture the clinical manifestations and findings associated with Kawasaki disease, lupus, lymphoma, stroke, and many other disorders seen in children.[books.google.com]
  • Ciliary movement involves 2 phases: an effective stroke phase that sweeps forward and a recovery phase during which the cilia bend backward and extend into the starting position for the stroke phase.[emedicine.medscape.com]
  • The direction of the effective ciliary stroke in our patient was random, so that effective mucociliary clearance could not take place.[nejm.org]
  • It allows the visualization of the normal pattern of ciliary beating; that is, a forward power stroke followed by a slow, slightly sideways, backward recovery stroke.[ncbi.nlm.nih.gov]
  • A normal ciliary beat pattern (wt) is characterized by a strong beating stroke (symbolized in grey) followed by a recovery stroke (symbolized in green). In DNAH5 mutant cilia, only a minimal residual ciliary activity is present.[ciliajournal.biomedcentral.com]
Confusion
  • It confirms that post-culture changes in the phenotype of PCD samples clarifies rather than confuse diagnostic status.[journals.plos.org]
  • […] away if they have any of the following symptoms of liver problems: pain or discomfort in the upper right stomach (abdominal) area; yellowing of the skin or the white part of the eyes; loss of appetite; nausea or vomiting; dark, amber-colored urine; or confusion[businesswire.com]

Workup

  • Alterations encountered in secondary ciliary dyskinesia (SCD) caused by inflammation often complicate the diagnostic workup.[ncbi.nlm.nih.gov]

Treatment

  • Uses extensive color-coded algorithms to facilitate quick diagnosis, management, and treatment decisions. Organizes material to parallel your clinical decision making process.[books.google.de]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Treatment largely consists of physiotherapy, early treatment of chest infection and immunisation against influenza virus 6. As is the case with cystic fibrosis there appears to be higher than expected infection rate with P. aeruginosa 4.[radiopaedia.org]
  • Treatment [ edit ] There no standardized effective treatment strategies for the condition.[en.wikipedia.org]

Prognosis

  • Once bronchiectasis is established, prognosis worsens significantly.[patient.info]
  • With modern care and abstinence from smoking, the prognosis in the immotile cilia syndrome is good. The immotile cilia syndrome clearly is a genetically heterogeneous disease, although its clinical profile is fairly uniform.[ommbid.mhmedical.com]
  • Treatment and prognosis The natural progression of primary ciliary dyskinesia is relatively slow compared to cystic fibrosis for example, but nonetheless, up to 25% of patients eventually develop respiratory failure 4.[radiopaedia.org]
  • […] develop; long-term treatment with macrolides such as clarithromycin, erythromycin and azithromycin has been empirically applied for the treatment of primary ciliary dyskinesia in Japan, though controversial due to the effects of the medications. [16] Prognosis[en.wikipedia.org]
  • To date, there have been no large-scale, long-term studies for a more detailed prognosis of PCD.[ncbi.nlm.nih.gov]

Etiology

  • A consistent chapter format enables you to rapidly and effortlessly locate the most current protocols on manifestations, etiologies, triggers, approaches to treatment, complications, and preventative strategies.[books.google.de]
  • Synonym(s): Kartagener syndrome Epidemiology Prevalence 1 in 15,000 to 60,000 live births, although this is likely an underestimate because PCD is an underdiagnosed disease Etiology and Pathophysiology Most of the deficits seen in PCD can be explained[unboundmedicine.com]
  • The immotile-cilia syndrome: a congenital ciliary abnormality as an etiologic factor in chronic airway infections and male sterility . N Engl J Med 1977 ; 297: 1 –6. 3. Sleigh MA. . Primary ciliary dyskinesia . Lancet 1981 ; 2: 476 . 4. Idem.[nejm.org]
  • Non-cystic fibrosis bronchiectasis in children: clinical profile, etiology and outcome. Indian Pediatr (2015) 52:35–7. doi:10.1007/s13312-015-0563-8 PubMed Abstract CrossRef Full Text Google Scholar 34.[frontiersin.org]

Epidemiology

  • Synonym(s): Kartagener syndrome Epidemiology Prevalence 1 in 15,000 to 60,000 live births, although this is likely an underestimate because PCD is an underdiagnosed disease Etiology and Pathophysiology Most of the deficits seen in PCD can be explained[unboundmedicine.com]
  • Epidemiology The incidence of the genetic disorder is 1 in 32,000 births [ 5 ]. However, higher incidences have been found in communities in which consanguineous marriages are common [ 6 ].[patient.info]
  • Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy.[frontiersin.org]
  • Epidemiology The PCD prevalence is difficult to determine [ 11 ] and is in the range of 1:4,000 to 12 ].[ciliajournal.biomedcentral.com]
Sex distribution
Age distribution

Pathophysiology

  • However, cystic fibrosis and PCD have a different pathophysiological mechanism with a more 'mechanical' disturbance of the mucociliary clearance in PCD, compared to a more 'viscous' disturbance of mucociliary clearance in CF.[clinicaltrials.gov]
  • Synonym(s): Kartagener syndrome Epidemiology Prevalence 1 in 15,000 to 60,000 live births, although this is likely an underestimate because PCD is an underdiagnosed disease Etiology and Pathophysiology Most of the deficits seen in PCD can be explained[unboundmedicine.com]
  • Bush Nitric oxide in chronic airway inflammation in children: diagnostic use and pathophysiological significance Thorax, 57 (2002), pp. 586-589 [31.] B. Karadag, A.J. James, E. Gültekin, N.M. Wilson, A.[apcontinuada.com]
  • At least 32 genes have been implicated in this condition. [8] Another gene associated with this condition is GAS2L2. [9] Pathophysiology [ edit ] CT image showing situs inversus.[en.wikipedia.org]
  • Current issues in the basic mechanisms, pathophysiology, diagnosis and management of primary ciliary dyskinesia. Eur Respir Mon, 37 (2006), pp. 291-313 [8] U.W. Goodenough, J.E. Heuser.[archbronconeumol.org]

Prevention

  • Succinct, targeted coverage of normal childhood growth and development, as well as the diagnosis, management, and prevention of common pediatric diseases and disorders, make this an ideal medical reference book for students, pediatric residents, nurse[books.google.com]
  • A consistent chapter format enables you to rapidly and effortlessly locate the most current protocols on manifestations, etiologies, triggers, approaches to treatment, complications, and preventative strategies.[books.google.de]
  • Primary Ciliary Dyskinesia (PCD): PCD means to be born with an abnormality that prevents cilia from working normally.[boogordoctor.com]
  • A number of measures to prevent respiratory tract infection and irritation should be considered.[slideshare.net]
  • Early diagnosis is important to prevent disease progression. Nasal nitric oxide (nNO) measurement is an established first line test in the work-up for PCD.[bib.irb.hr]

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