Ciliated cells are found lining various body cavities,
|
|
- Ethelbert Hall
- 5 years ago
- Views:
Transcription
1 Ultrastructural Abnormalities of Respiratory Cilia A 25-Year Experience Thomas P. Plesec, MD; Angela Ruiz, MD; James T. McMahon, PhD; Richard A. Prayson, MD Context. Ciliary dyskinesia is a rare, but significant, cause of chronic respiratory infections, and transmission electron microscopy is a critical adjunct to making the diagnosis. Objective. To investigate a single institution s experience with patients demonstrating abnormal ciliary ultrastructure. Design. Retrospective clinicopathologic review of 278 bronchial or nasal turbinate brushings or biopsies from 1983 through Results. There were 12 women and 9 men (mean age, 19.6 years; range, 1 54 years) with abnormal ciliary ultrastructure. Clinical history was unavailable in 3 patients, 15 (83%) of 18 patients presented with chronic or recurrent upper respiratory infections, and 3 (17%) presented with infertility. Seven (39%) of 18 patients had findings of Kartagener syndrome with situs inversus, dextrocardia, and bronchiectasis. Truncation or absence of inner or outer dynein arms occurred in 15 (71%) of 21 cases, and 5 (24%) revealed transposition defects with displacement of the central microtubules and peripheral doublets in 9 0 and 8 1 patterns. Radial spoke defects with microtubular disarray occurred in 4 (19%) of 21 cases. Compound cilia with multiple axonemes within a single outer sheath and supernumerary microtubules each occurred in 2 (10%) of the cases. Random ciliary orientation was also found in 2 (10%) of the cases, and dense granular basal body inclusions occurred in 1 case (5%). Multiple abnormalities occurred in 6 (29%) of the 21 cases. Conclusions. Most patients presented with chronic respiratory tract infections or infertility. Dynein arm defects, transposition defects, and radial spoke defects were the most commonly encountered abnormal findings. Less-frequent abnormal findings included compound cilia, supernumerary microtubules, and dense granular basal body inclusions. (Arch Pathol Lab Med. 2008;132: ) Ciliated cells are found lining various body cavities, such as the respiratory tract, the ventricles in the central nervous system, the ductuli efferentes, the fallopian tubes, and the retina. Defects in ciliary anatomy can, therefore, lead to an array of diseases, such as chronic respiratory infections, hydrocephalus, infertility, and blindness. Normal ciliary ultrastructure was initially described by Afzelius in 1959 and consists of 9 peripheral microtubule doublets surrounding a central pair of microtubule singlets (Figure 1). 1 Each doublet has inner and outer dynein arms, which are able to walk along the adjacent microtubular doublet, bending the cilium. Radial spokes between the doublets and a central sheath provide structural support. 2 Similar microtubular structures are also present in spermatozoal flagella, and the absence of one or both dynein arms in patients with immotile spermatozoa was first reported in These patients were also diagnosed with Kartagener syndrome, characterized by the classic triad of sinusitis, bronchiectasis, and situs inversus. Since then, numerous other ciliary structural de- Accepted for publication April 23, From the Department of Anatomic Pathology, Cleveland Clinic Foundation, Cleveland, Ohio. The authors have no relevant financial interest in the products or companies described in this article. Reprints: Richard A. Prayson, MD, Department of Anatomic Pathology (L25), Cleveland Clinic Foundation, 9500 Euclid Ave, Cleveland OH ( praysor@ccf.org). fects have been described and implicated as causes of ciliarelated disease. These include absence of radial spokes with microtubular disarray, absence of the central pair of microtubules (with or without transposition of one of the outer pairs of microtubules to the center position, socalled 9 0 or 8 1 defects), absence of the central sheath, supernumerary doublets, absence of the axoneme, elongated cilia, and random ciliary orientation, among others. 1,2 Several series 3 6 since 2000 have reported on patients with ciliary dyskinesia, often focusing on clinical presentations and outcomes. This study sought to add to the literature by reviewing one institution s experience with ciliary biopsy and brushing specimens, specifically focusing on the clinicopathologic features of cases with ultrastructurally abnormal cilia. MATERIALS AND METHODS After receiving institutional review board approval, results of transmission electron microscopy (TEM) performed on respiratory cilia of patients from 1983 through 2007 were retrospectively reviewed. The study group consisted of those cases with ultrastructurally abnormal cilia. Specimens consisted of bronchial or nasal turbinate brushings. Motility was assessed by evaluation of saline wet-mount preparations for assessment of wave patterns. In specimens demonstrating absent ciliary motility, cell viability was assessed by trypan blue dye exclusion. Tissue submitted for ultrastructural evaluation was fixed in 3.75% glutaraldehyde, 6% sucrose, and buffered with 0.1M cacodylate at ph 7.2 to 7.4. Postfixation used 1% osmium tetroxide and 0.1M cacodylate at ph 1786 Arch Pathol Lab Med Vol 132, November 2008 Ultrastructural Abnormalities of Respiratory Cilia Plesec et al
2 Figure 1. Electron photomicrograph revealing normal ciliary ultrastructural findings, consisting of a 9 2 microtubular array, inner and outer dynein arms, and intact radial spoke (original magnification ). 7.2 to 7.4. Tannic acid was not used. Forty- to sixty-nanometer sections were cut and stained in uranyl acetate and lead citrate. Surgical pathology reports were reviewed to classify the ultrastructural ciliary defects. At the time of diagnosis, at least 50 cross sections were examined, similar to other reports in the literature The retrospective nature of this series precluded precise quantification of the ciliary defects, given the possibility of selection bias in the preserved photomicrographs. However, upon review of the TEM photomicrographs, a semiquantitative analysis was performed. Those defects that occurred in a minority of ciliary cross sections (approximately 20%) were ruled out as an etiology of primary ciliary dyskinesia (PCD) because these defect frequencies are often seen in healthy patients or in secondary processes. 8,11 15 Clinical presentation and demographic information were obtained for those patients with abnormal TEM findings via medical record review. The diagnosis of PCD requires assimilation of clinical, radiologic, laboratory, and pathologic data. 3,16,17 Therefore, the determination of the presence or absence of PCD was based on that chart review and the clinical teams final determination. RESULTS Ciliary brushing results from 278 patients were reviewed. Of those, 128 (46%) were excluded because they lacked TEM studies after the motility study findings were normal or, rarely, because the specimens were inadequate. The remaining 150 (54%) of 278 specimens underwent electron microscopic examination, with or without motility studies, and 14% (21/150) were found to have abnormal ciliary structure. The clinicopathologic features of the 21 patients with abnormal TEM findings are summarized in Table 1. The group consisted of 12 women and 9 men (mean age, 19.6 years; range 1 54 years). In 3 (14%) of the 21 patients, clinical information was unavailable. Of the remaining 18 patients, 15 (83%) presented with chronic or recurrent upper respiratory infections. Three (17%) of the 18 patients presented with infertility, 1 of whom had infertility as the sole complaint. Seven (39%) of the 18 patients had findings consistent with Kartagener syndrome, with situs inversus, dextrocardia, and bronchiectasis. Fourteen (78%) of the 18 patients with available clinical history were found to have PCD, whereas only 1 (6%) of the 18 patients was documented to have acquired or secondary ciliary dyskinesia (SCD). Fresh tissue studies demonstrated absent or weak ciliary motility in viable epithelial cells in 14 (67%) of 21 cases. Two additional cases had viable epithelial cells that demonstrated abnormal motility: one with rapid ciliary activity and metachronous wave patterns with focal immotility and premature ending of the wave motion, and the other with demonstrated activity but no identifiable metachronicity. Three cases (14%) showed normal ciliary motility with metachronic wave patterns. Ciliary motility studies were not performed in 2 patients. Table 2 lists the various cilia ultrastructural abnormalities and correlates those abnormalities with the presence or absence of documented PCD. Most cases of PCD involved dynein arm defects (10/14; 71%). Other defects associated with documented PCD included transposition defects (2/14; 14%), abnormal ciliary orientation (1/14; 7%), and radial spoke defects (1/14; 7%). When abnormalities were encountered only rarely or infrequently ( 20%), they were excluded as an etiology for the PCD. Cases with only rare or infrequent ultrastructural abnormalities included transposition defects (n 2), supernumerary microtubules (n 2), radial spoke defects (n 1), compound cilia (n 1), and basal body inclusions (n 1). Truncation or absence of inner or outer dynein arms was the most frequently encountered ultrastructural abnormality, occurring in 71% (15/21; Figure 2, A) of the cases. The abnormality was the sole defect in all but 1 case, which showed radial spoke defects and compound cilia. Follow-up evaluation in that case, 4 months later, revealed normal ciliary motility and completely normal cilia ultrastructure, findings consistent with acquired defects. Cilia in 5 (24%) of the 21 cases revealed displacement of the central microtubules and peripheral doublets in 9 0and8 1 patterns (Figure 2, B). The resultant axoneme was seen in an 8 1 pattern, if a doublet was displaced to the center the so-called transposition defect and in a 9 0 arrangement, if no displacement occurred. Three cases with transposition defects also revealed other abnormalities, including supernumerary microtubules and radial spoke defects in one case, radial spoke defects and compound cilia in another, and random ciliary orientation in the third. Radial spoke defects were evidenced by microtubule disarray or displacement (not absence) of the central singlet pair, and these defects involved 4 (19%) of the 21 cases (Figure 2, C). Three contained additional abnormalities of cilia. Two cases showed transposition defects, and 2 cases revealed compound cilia. A single case with radial spoke defects demonstrated supernumerary microtubules, whereas another showed absent dynein arms. Random ciliary orientation was seen in 2 (10%) of the 21 cases (Figure 2, D): one had transposition defects, and the other had dense granular basal body inclusions along with supernumerary microtubules. Compound cilia (Figure 3, A), which consisted of multiple axonemes within a single outer sheath, occurred in 2 (10%) of the cases. The TEM showed each had multiple other abnormalities of the cilia, including radial spoke defects in both, as well as transposition defects and absent dynein arms in 1 each. Arch Pathol Lab Med Vol 132, November 2008 Ultrastructural Abnormalities of Respiratory Cilia Plesec et al 1787
3 Case No. Table 1. Clinicopathologic Summary of 21 Patients With Abnormal Cilia Ultrastructure* Age, y/sex Clinical Presentation PCD Ciliary Motility Ultrastructure 1 7/F Recurrent sinusitis, otitis media, Yes None Absent/truncated dynein arms situs inversus, dextrocardia 2 8/M Recurrent sinusitis, otitis media, Yes Mostly none; rare jerky movement Absent/truncated dynein arms pneumonia, situs inversus, mesocardia, multiple congenital cardiac malformations 3 25/F Recurrent upper respiratory tract infections, infertility Yes Metachronic wave pattern with focally absent, sluggish motility Transposition defect; abnormal orientation 4 8/M Chronic otitis media, recurrent cough, situs inversus, dextrocardia Yes Rare twitchy movement; absent motility Radial spoke defect; rare supernumerary microtubules; rare transposition defect 5 4/M Recurrent sinusitis, pneumonia No f/u Normal Rare supernumerary microtubules; rare dense granular basal body inclusions 6 10/F Chronic sinusitis, recurrent pneumonia, Yes None Absent/truncated dynein arms otitis media, bronchiecta- sis, situs inversus, dextrocardia 7 54/M Data unavailable No f/u None Transposition defect 8 13/F Chronic productive cough, bronchiectasis, Yes None Absent/truncated dynein arms situs inversus, dextrocar- dia 9 53/F Chronic sinusitis, bronchiectasis No f/u None Radial spoke defect 10 6/M Data unavailable No f/u Normal Absent/truncated dynein arms 11 5/F Chronic sinusitis, asthma, bronchiectasis Yes Focal metachronic wave pattern Transposition defect; rare radial spoke defect; rare compound cilia 12 33/M Infertility No f/u None Absent/truncated dynein arms 13 7/M Data unavailable No f/u None Absent/truncated dynein arms 14 49/F Chronic sinusitis, bronchiectasis, Yes Immotile and sluggish Absent/truncated dynein arms and infertility 15 40/F Chronic sinusitis and diffuse bronchiectasis Yes None Absent/truncated dynein arms 16 7/F Chronic sinusitis and productive cough, bronchiectasis Yes Present; no metachronicity Abnormal orientation; rare transposition defect 17 2/F Chronic otitis media, sinusitis, and Yes Absent/sluggish Absent/truncated dynein arms cough 18 1/M Recurrent otitis media, asthma Yes Quivering/sluggish Absent/truncated dynein arms 19 7/F Chronic otitis media, asthma, situs Yes None Absent/truncated dynein arms inversus, dextrocardia, seizures 20 46/F Laryngeal dysfunction No Not performed Absent/truncated dynein arms, radial spoke defect, compound cilia 21 26/M Situs inversus Yes Not performed Absent/truncated dynein arms * PCD indicates primary ciliary dyskinesia; f/u, follow-up. Table 2. Frequency of Specific Cilia Ultrastructure Abnormalities and Associations With Primary Ciliary Dyskinesia (PCD)* Cilia Defect No. (%) PCD (n 14) Rare/ Infrequent Defects Dynein arm 15 (71) Yes (10) 0/15 Transposition 5 (24) Yes (2) 2/5 Radial spoke 4 (19) Yes (1) 1/4 Abnormal orientation 2 (10) Yes (1) 0/2 Compound cilia 2 (10) No 1/2 Supernumerary microtubules 2 (10) No 2/2 Basal body inclusions 1 (5) No 1/1 Multiple defects 6 (29) NA NA * Cases with rare/infrequent defects occurred in 20% of cilia cross sections. NA indicates not applicable. Supernumerary microtubules (Figure 3, B) occurred in 2 (10%) of the cases, each with defects, including transposition defects and radial spoke defects in 1 and dense granular basal body inclusions in another (Figure 3, C). Multiple abnormalities were observed in 6 (29%) of the 21 cases. COMMENT Abnormal cilia are a common occurrence in human bronchial epithelium; 4% to 10% of cilia in healthy patients can reveal ultrastructural abnormalities. 8,13,14 In chronic respiratory disease, the percentage of abnormal cilia can increase to 20%. 8,11 15 McDowell et al 11 reported that 97% (30/31) of the patients with various neoplastic and nonneoplastic diseases had abnormal ciliary ultrastructure. However, the abnormalities were rare in all specimens, with most of the cilia examined revealing normal ultrastructure. Al-Rawi et al 15 found that 87% (20/23) of the patients with severe chronic sinusitis had ultrastructural defects, including compound cilia, microtubule defects, and dynein arm defects. Although not precisely quanti Arch Pathol Lab Med Vol 132, November 2008 Ultrastructural Abnormalities of Respiratory Cilia Plesec et al
4 Figure 2. Electron photomicrographs demonstrating the ultrastructural abnormalities findings associated with primary ciliary dyskinesia. A, Case 2. Absence of dynein arms (original magnification ). B, Case 7. Transposition defects with characteristic 9 0 and 8 1 microtubular configurations (original magnification ). C, Case 4. Radial spoke defects with displacement of the central pair of microtubules (original magnification ). D, Case 16. Abnormal ciliary orientation (original magnification ). Lines drawn through the central microtubule pair aid in recognition of this defect. Arch Pathol Lab Med Vol 132, November 2008 Ultrastructural Abnormalities of Respiratory Cilia Plesec et al 1789
5 Figure 3. Electron photomicrographs demonstrating the ultrastructural abnormalities not definitively associated with primary ciliary dyskinesia. A, Case 11. Rare compound cilium showing 5 axonemes within 1 cell membrane (arrows highlight single ciliary membrane) (original magnification ). B, Case 4. Supernumerary microtubules in patient with radial spoke defect (original magnification ). C, Case 5. Electron-dense, granular basal body inclusions (original magnification ). fied, the abnormalities were typically found in a minority of the cilia. Therefore, authorities have concluded that patients with acquired ciliary abnormalities have only a minority of cilia with ultrastructural defects, whereas patients with PCD have defects in most, or all, cilia. 13,15,18,19 Secondary ciliary dyskinesia refers to ciliary abnormalities caused by environmental factors, such as viral or bacterial infections or other sources of chronic mucosal inflammation. Distinguishing PCD from SCD by light microscopy or electron microscopy can be quite difficult but is important because SCD is potentially reversible. 2 Perhaps the most definitive laboratory method for distinguishing PCD from SCD was described by Jorissen et al. 20 Ciliated cells were biopsied and stimulated to undergo ciliogenesis in culture. After ciliogenesis, the cultured cilia from all patients with SCD had coordinated ciliary activity, whereas none of the cilia from patients with PCD did. The major drawbacks are that the test takes up to 6 weeks and is performed by only a few centers. In truth, few ultrastructural defects are specific for either PCD or SCD. Possible exceptions include the absence of dynein arms and the high percentage of eccentric or absent central pairs, defects generally thought to be specific for PCD. 2,20 However, not all patients with PCD have disease characterized by the absence of dynein arms or by absent central pairs, and numerous other defects have been described. Even normal ultrastructural findings have been reported, 20 and 25% of patients with PCD may have nonclassic findings. 20,21 Although groups have attempted to standardize criteria for the diagnosis of PCD by TEM, 7,14,22 none have been universally accepted. The causes of this lack of standardization are multifaceted. Primary ciliary dyskinesia is quite rare, with an estimated incidence of 1:15 000; it has many clinical manifestations and mimics; and it lacks a universally agreed upon, sensitive, and specific diagnostic test. 17 Transmission electron microscopy has been heralded as the gold standard, but again, standard diagnostic criteria for the diagnosis are lacking. The multitude of ultrastructural defects reportedly associated with PCD (12 according to Afzelius) 2 and the rarity of the disease make standardization of TEM interpretation difficult, if not impossible. Even false-positive and false-negative rates have never been reported for TEM. 16 In the absence of ciliary culture, documenting the persistence of the ultrastructural defects over time may provide added specificity to the diagnosis of PCD. 12,14 Dynein arm defects are considered the most frequent ultrastructural abnormality of cilia, comprising from 50% to greater than 80% of all abnormalities. 6,14,22 25 Of the patients studied in this series, 71% (15/21) demonstrated absent or truncated dynein arms, 10 of whom had documented PCD. The inner and outer dynein arms serve as the motor apparatus for the bending of cilia. 26 Peripheral microtubule doublets contain both the inner and outer dynein arms, and dynein arm defects are characterized by complete absence or shortening of one or both of the arms. The defects are considered by most to be congenital in nature and inherited in an autosomal recessive manner. 25 Two genes have been documented to cause dynein arm defects, accounting for up to 38% of PCD cases. 25 The DNAI1 gene, located on bands 9p13 to 9p21, encodes a component protein of the outer dynein arm. These patients often present with PCD, randomization of right/left body symmetry, and infertility. 23,25 The second gene, DNAH5, is located on chromosome arm 5p, and mutations have been associated with outer dynein arm absence or shortening and right/left asymmetry. 23,25,27 A mutation to DNAH11 on band 7p21 was initially described in one patient with PCD, and situs inversus and has been validated in a kindred of 6, interestingly, with normal ciliary ultrastructural findings. 21,28 Twenty-four percent of the patients demonstrated transposition defects, 2 of whom had documented PCD. These defects are thought to comprise roughly 10% of ciliary abnormalities. 23 The normal ciliary axoneme arrangement consists of a pair of central microtubule singlets surrounded by 9 microtubule doublets, the 9 2 arrangement. The transposition defect results from absence of the central singlet pair, causing a 9 0 arrangement to the axoneme. Often, 1 of the 9 peripheral doublets is translocated to the center of the axoneme, causing an 8 1 arrangement. 29 To 1790 Arch Pathol Lab Med Vol 132, November 2008 Ultrastructural Abnormalities of Respiratory Cilia Plesec et al
6 date, there are no genes known to cause the transposition defect. Nineteen percent of patients with ultrastructural ciliary abnormalities exhibited radial spoke defects, 1 of whom had documented PCD. According to reports, radial spoke defects are thought to account for about 6% of defects. 23 Radial spokes are proteins that provide structural support and tethering to the central pair through connections between each microtubule pair and the central sheath. Absence of the radial spokes causes displacement without loss of the central pair and is readily recognized by TEM. 30 Again, no specific genetic causes have been found so far. A variety of other abnormalities were seen less frequently in this series. Compound cilia were seen in 2 cases and are thought to be secondary defects. 26 They are evidenced by multiple axonemes within one outer sheath. Supernumerary microtubules also occurred in 2 patients and have been reported as a cause of PCD. 31 Supernumerary microtubules consist of extra microtubules, beyond the normal 9 2 arrangement. Abnormal or random ciliary orientation with normal individual ciliary ultrastructural findings were also identified in 2 patients, 1 of whom had documented PCD. To effectively clear mucus via coordinated movement, cilia need to be oriented in a similar plane. Random ciliary orientation as a cause of PCD was first reported in and has since been challenged by Jorissen and Willems 24 who found that ciliary disorientation as the sole ultrastructural abnormality was eliminated after ciliogenesis in culture. Our series provides further evidence that absent dynein arms are the most common ciliary abnormality in patients with PCD. Other less-frequent defects associated with PCD include transposition, radial spokes, and abnormal cilia orientation. The other abnormalities encountered in this series were rare and were never the sole defect in patients with documented PCD. Although standardized pathologic criteria for the diagnosis of PCD are lacking, this series provides further evidence that frequent dynein arm, transposition, radial spoke, and orientation defects are associated with the disease. References 1. Cowan MJ, Gladwin MT, Shelhammer JH. Disorders of ciliary motility. Am J Med Sci. 2001;321: Afzelius BA. Cilia-related diseases. J Pathol. 2004;204: Holzmann D, Ott PM, Felix H. Diagnostic approach to primary ciliary dyskinesia: a review. Eur J Pediatr. 2000;159: Coren ME, Meeks M, Morrison I, Buchdahl RM, Bush A. Primary ciliary dyskinesia: age at diagnosis and symptom history. Acta Paediatr. 2002;91: Pizzi S, Cazzato S, Bernardi F, Mantovani W, Cenacchi G. Clinico-pathological evaluation of ciliary dyskinesia: diagnostic role of electron microscopy. Ultrastruct Pathol. 2003;27: Noone PG, Leigh MW, Sannuti A, et al. Primary ciliary dyskinesia: diagnostic and phenotypic features. Am J Respir Crit Care Med. 2004;169: Teknos TN, Metson R, Chasse T, Balercia G, Dickersin GR. New developments in the diagnosis of Kartagener s syndrome. Otolaryngol Head Neck Surg. 1997;116: Bush A, Cole P, Hariri M, et al. Primary ciliary dyskinesia: diagnosis and standards of care. Eur Respir J. 1998;12: Carlén B, Stenram U. Primary ciliary dyskinesia: a review. Ultrastruct Pathol. 2005;29: Roomans GM, Ivanovs A, Shebani EB, Johannesson M. Transmission electron microscopy in the diagnosis of primary ciliary dyskinesia. Ups J Med Sci. 2006;111: McDowell EM, Barrett LA, Harris CC, Trump BF. Abnormal cilia in human bronchial epithelium. Arch Pathol Lab Med. 1976;100: Carson JL, Collier AM, Hu SS. Acquired ciliary defects in nasal epithelium of children with acute viral upper respiratory infections. New Engl J Med. 1985; 312: Smallman LA, Gregory J. Ultrastructural abnormalities of cilia in the human respiratory tract. Hum Pathol. 1986;17: de Iongh RU, Rutland J. Ciliary defects in healthy subjects, bronchiectasis, and primary ciliary dyskinesia. Am J Respir Crit Care Med. 1995;151: Al-Rawi MM, Edelstein DR, Erlandson RA. Changes in nasal epithelium in patients with severe chronic sinusitis: a clinicopathologic and electron microscopic study. Laryngoscope. 1998;108: Bush A, Chodhari R, Collins N, et al. Primary ciliary dyskinesia: current state of the art. Arch Dis Child. 2007;92: O Callaghan C, Chilvers M, Hogg C, Bush A, Lucas J. Diagnosing primary ciliary dyskinesia. Thorax. 2007;62: Ehouman A, Pinchon MC, Escudier E, Bernaudin JF. Ultrastructural abnormalities of respiratory cilia: descriptive and quantitative study of respiratory mucosa in a series of 33 patients. Virchows Arch B Cell Pathol Incl Mol Pathol. 1985; 48: Bertrand B, Collet S, Eloy P, Rombaux P. Secondary ciliary dyskinesia in upper respiratory tract. Acta Otorhinolaryngol Belg. 2000;54: Jorissen M, Willems T, Van Der Schueren B. Ciliary function analysis for the diagnosis of primary ciliary dyskinesia: advantages of ciliogenesis in culture. Acta Otolaryngol. 2000;120: Schwabe GC, Hoffmann K, Loges NT, et al. Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. Hum Mutat. 2008;29: Van der Baan S, Veerman AJP, Bezemer PD, Feenstra L. Primary ciliary dyskinesia: quantitative investigation of the ciliary ultrastructure with statistical analysis. Ann Otol Rhinol Laryngol. 1987;96: Storm van s Gravesande K, Omran H. Primary ciliary dyskinesia: clinical presentation, diagnosis and genetics. Ann Med. 2005;37: Jorissen M, Willems T. The secondary nature of ciliary (dis)orientation in secondary and primary ciliary dyskinesia. Acta Otolaryngol. 2004;124: Zariwala MA, Knowles MR, Omran H. Genetic defects in ciliary structure and function. Annu Rev Physiol. 2007;69: Meeks M, Bush A. Primary ciliary dyskinesia (PCD). Pediatr Pulmonol. 2000;29: Olbrich H, Häffner K, Kispert A, et al. Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat Genet. 2002; 30: Bartoloni L, Blouin JL, Pan Y, et al. Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. Proc Natl Acad Sci U S A. 2002;99: Sturgess JM, Chao J, Turner JAP. Transposition of ciliary microtubules: another cause of impaired ciliary motility. N Engl J Med. 1980;303: Sturgess JM, Chao J, Wong J, Aspin N, Turner JA. Cilia with defective radial spokes: a cause of human respiratory disease. N Engl J Med. 1979;300: Antonelli M, Modesti A, Quattrucci S, de Angelis M. Supernumerary microtubules in the cilia of two siblings causing immotile cilia syndrome. Eur J Respir Dis. 1983;64: Rutland J, de Iongh RU. Random ciliary orientation: a cause of respiratory tract disease. New Engl J Med. 1990;323: Arch Pathol Lab Med Vol 132, November 2008 Ultrastructural Abnormalities of Respiratory Cilia Plesec et al 1791
DIAGNOSIS OF PRIMARY CILIARY DYSKINESIA
DIAGNOSIS OF PRIMARY CILIARY DYSKINESIA Kris De Boeck, MD PHD Pediatric Pulmonology, University of Leuven, Belgium Introduction Cause Congenital dysfunction of motile cilia Absence/dysfunction of one of
More informationCASE REPORT. 1. Assistant Professor. Department of Paediatrics, Vinayaka Missions Medical College, Karaikal
A CASE OF KARTAGENER SYNDROME Pagadpally Srinivas 1. Assistant Professor. Department of Paediatrics, Vinayaka Missions Medical College, Karaikal CORRESPONDING AUTHOR: Pagadpally Srinivas, 72, Vellai Pillaiyar
More informationR espiratory cilia beat in a coordinated manner with a specific
333 AIRWAY BIOLOGY Functional analysis of cilia and ciliated epithelial ultrastructure in healthy children and young adults M A Chilvers, A Rutman, C O Callaghan... See end of article for authors affiliations...
More informationSWISS SOCIETY OF NEONATOLOGY. Kartagener s syndrome: Neonatal respiratory distress as initial symptom of primary ciliary dyskinesia
SWISS SOCIETY OF NEONATOLOGY Kartagener s syndrome: Neonatal respiratory distress as initial symptom of primary ciliary dyskinesia MAY 2005 2 Christen M, and Berger TM, Neonatal and Pediatric Intensive
More informationHigh prevalence of Primary Ciliary Dyskinesia in a British Asian population
High prevalence of Primary Ciliary Dyskinesia in a British Asian population Chris O Callaghan 1, Phil Chetcuti 2, Eduardo Moya 3 1. University of Leicester, Leicester, United Kingdom 2. Leeds General Infirmary,
More informationPrimary Ciliary Dyskinesia Pathogenesis, diagnosis and treatment DR CLAIRE HOGG DEPT. RESPIRATORY PAEDIATRICS ROYAL BROMPTON HOSPITAL LONDON.
Primary Ciliary Dyskinesia Pathogenesis, diagnosis and treatment DR CLAIRE HOGG DEPT. RESPIRATORY PAEDIATRICS ROYAL BROMPTON HOSPITAL LONDON. Pathogenesis of PCD Autosomal recessive Heterogeneous Defect
More informationDiagnosis of primary ciliary dyskinesia: searching for a gold standard
EDITORIAL PRIMARY CILIARY DYSKINESIA Diagnosis of primary ciliary dyskinesia: searching for a gold standard Jane S. Lucas 1,2 and Margaret W. Leigh 3,4 Affiliations: 1 Primary Ciliary Dyskinesia Centre,
More informationA 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia
Eur Respir J 2010; 35: 1057 1063 DOI: 10.1183/09031936.00046209 CopyrightßERS Journals Ltd 2010 A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia J.F. Papon*,#,",+,1,
More informationPrimary Ciliary Dyskinesia Clinical Presentation and Diagnosis. Douglas Conrad California Thoracic Society January, 2018
Primary Ciliary Dyskinesia Clinical Presentation and Diagnosis Douglas Conrad California Thoracic Society January, 2018 Disclosures Current Funding: NIH RO1 National CF Foundation Gilead Sciences Potential
More informationUltrastructural Aspect in the Immotile Cilia Syndrome*)
Hiroshima Journal of Medical Sciences Vol. 33, No. 2, 239~245, June, 1984 HIJM 33-31 239 Ultrastructural Aspect in the Immotile Cilia Syndrome*) Toru KAMADA, Ryo SUMIMOTO and Erika SHIGETO National Sanatorium
More informationPrimary ciliary dyskinesia syndrome associated with abnormal ciliary orientation in infants
Eur Respir J 2001; 17: 444 448 Printed in UK all rights reserved Copyright #ERS Journals Ltd 2001 European Respiratory Journal ISSN 0903-1936 Primary ciliary dyskinesia syndrome associated with abnormal
More informationOrientation of respiratory tract cilia in patients with primary ciliary dyskinesia, bronchiectasis, and in normal
J Clin Pathol 1989;42:613-619 Orientation of respiratory tract cilia in patients with primary ciliary dyskinesia, bronchiectasis, and in normal subjects R DE IONGH, J RUTLAND From the Respiratory Unit,
More informationSimplified cell culture method for the diagnosis of atypical primary ciliary dyskinesia
c Additional methods and video clips are published online only at http://thorax.bmj.com/content/ vol64/issue12 1 Department of Pediatrics, University of Pisa, Italy; 2 Interdepartmental Research Center
More informationPrimary Ciliary Dyskinesia (PCD) Angelo Barbato Department of Pediatrics Padova University/General Hospital Padova-Italy
Primary Ciliary Dyskinesia (PCD) Angelo Barbato Department of Pediatrics Padova University/General Hospital Padova-Italy barbato@pediatria.unipd.it PCD IS A RARE DISEASE THAT BEGINS IN CHILDHOOD AND CONTINUES
More informationDiagnostic Testing of Patients Suspected of Primary Ciliary Dyskinesia
Diagnostic Testing of Patients Suspected of Primary Ciliary Dyskinesia Wendy A. Stannard 1, Mark A. Chilvers 1 *, Andrew R. Rutman 1, Chris D. Williams 1, and Chris O Callaghan 1 1 Division of Child Health,
More informationKartagener s Syndrome: Presenting in Fourth Decade
August, 2017 2017; Vol1; Issue7 http://iamresearcher.online Kartagener s Syndrome: Presenting in Fourth Decade Sejal Sejwani, Pramod Jha, Krunal Tamakuwala, Garvit Garg, Smit Shah SBKS & MIRC Vadodara,
More informationCiliary central microtubular orientation is of no clinical significance in bronchiectasis
Title Ciliary central microtubular orientation is of no clinical significance in bronchiectasis Author(s) Tsang, KW; Tipoe, GL; Mak, JC; Sun, J; Wong, M; Leung, R; Tan, KC; MedStat, CKM; Ho, JC; Ho, PL;
More informationKARTAGENER S SYNDROME: A CLASSICAL CASE
Kartagener s Syndrome Arunabha D.C et al 363 CASE REPORT KARTAGENER S SYNDROME: A CLASSICAL CASE Arunabha DC 1, Sumit RT 1, Sourin B 2, Sabyasachi C 3, Subhasis M 4 ABSTRACT BACKGROUND: Recurrent lower
More informationPrimary Ciliary Dyskinesia (PCD) Angelo Barbato Department of Pediatrics Padova University/General Hospital Padova-Italy
Thank you for viewing this presentation. We would like to remind you that this material is the property of the author. It is provided to you by the ERS for your personal use only, as submitted by the author.
More informationKartagener s Syndrome STEFANIE CORRADINI - PMU SALZBURG (AUSTRIA) GILLIAN LIEBERMAN, MD
Kartagener s Syndrome STEFANIE CORRADINI - PMU SALZBURG (AUSTRIA) GILLIAN LIEBERMAN, MD let s meet our patient.. 75 y/o woman presents to the ED complaining of chest pain over the anterior right chest
More informationRapid diagnosis of primary ciliary dyskinesia: cell culture and soft computing analysis
Eur Respir J 2013; 41: 960 965 DOI: 10.1183/09031936.00039412 CopyrightßERS 2013 Rapid diagnosis of primary ciliary dyskinesia: cell culture and soft computing analysis Massimo Pifferi*, Andrew Bush #,
More informationCiliary defects and genetics of primary ciliary dyskinesia.
Ciliary defects and genetics of primary ciliary dyskinesia. Estelle Escudier, Philippe Duquesnoy, Jean-François Papon, Serge Amselem To cite this version: Estelle Escudier, Philippe Duquesnoy, Jean-François
More informationBardet Biedl Syndrome Motile Ciliary Phenotype
[ Original Research Pediatrics ] Bardet Biedl Syndrome Motile Ciliary Phenotype Amelia Shoemark, PhD ; Mellisa Dixon, PhD ; Philip L. Beales, MD ; and Claire L. Hogg, MBChB BACKGROUND: Cilia line the surface
More informationA 20-year experience of electron microscopy in the diagnosis of primary ciliary
ERJ Express. Published on October 19, 2009 as doi: 10.1183/09031936.00046209 A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia Jean F Papon 1,2,3,4,5, Andre Coste
More informationP rimary ciliary dyskinesia (PCD) is usually an
1136 REVIEW Primary ciliary dyskinesia: current state of the art Andrew Bush, Rahul Chodhari, Nicola Collins, Fiona Copeland, Pippa Hall, Jonny Harcourt, Mohamed Hariri, Claire Hogg, Jane Lucas, Hannah
More informationRESPIRATORY CARE Paper in Press. Published on January 29, 2013 as DOI: /respcare.02241
TITLE PRIMARY CILIARY DYSKINESIA SHORT TITLE CILIARY DYSKINESIA AUTHORS Fatma Ciftci 1, MD, Specialist Pergin Atilla 2 MD, PhD, Assoc. Prof Sevda Muftuoglu 2 MD, PhD, Prof Demet Karnak 1, MD, Prof AFFILIATIONS
More informationKARTAGENER'S SYNDROME - VERSATILE PRESENTATIONS
Int. J. Pharm. Med. & Bio. Sc. 2013 Belaldavar B P et al., 2013 Case Study KARTAGENER'S SYNDROME - VERSATILE PRESENTATIONS ISSN 2278 5221 www.ijpmbs.com Vol. 2, No. 1, January 2013 2013 IJPMBS. All Rights
More informationCASE REPORT. KARTAGENER SYNDROME: A TRIAD OF CHRONIC SINUSITIS, BRONCHIECTASIS AND SITUSINVERSUS Arvinder Singh, Sohan Singh, Manjeet Kaur
KARTAGENER SYNDROME: A TRIAD OF CHRONIC SINUSITIS, BRONCHIECTASIS AND SITUSINVERSUS Arvinder Singh, Sohan Singh, Manjeet Kaur 1. Associate Professor, Department of Radiodiagnosis, Government Medical College,
More informationPRIMARY CILIARY DYSKINESIA
PRIMARY CILIARY DYSKINESIA 485 Ikezoe J, Johkoh T, Kohno N, et al. (1996) High-resolution CT findings of lung disease in patients with polymyositis and dermatomyositis. Journal of Thoracic Imaging 11:
More informationKartagener s syndrome: review of a case series
Ciancio et al. Multidisciplinary Respiratory Medicine (2015) 10:18 DOI 10.1186/s40248-015-0015-2 REVIEW Open Access Kartagener s syndrome: review of a case series Nicola Ciancio 1*, Maria Margherita de
More informationCase report. A case of Kartagener syndrome with rhinolalia clausa. Open Access
Case report Open Access A case of Kartagener syndrome with rhinolalia clausa Mohammed Raoufi 1, Hicham Sator 2, Jawad Lahma 3, Ali El Ayoubi 3, Sophia Nitassi 3, Abdelilah Oujilal 3, Mohammed Anas Benbouzid
More informationPrimary Ciliary Dyskinesia Diagnostic and Phenotypic Features
Primary Ciliary Dyskinesia Diagnostic and Phenotypic Features Peadar G. Noone, Margaret W. Leigh, Aruna Sannuti, Susan L. Minnix, Johnny L. Carson, Milan Hazucha, Maimoona A. Zariwala, and Michael R. Knowles
More informationImage: Louisa Howard and Michael Binder, Wikimedia Commons
Image: Louisa Howard and Michael Binder, Wikimedia Commons The ERS designates this educational activity for a maximum of 1 CME credit. For information on how to earn CME credits, please visit www.ers-education.org/e-learning/cme-tests
More informationPICADAR: a diagnostic predictive tool for primary ciliary dyskinesia
ORIGINAL ARTICLE PRIMARY CILIARY DYSKINESIA PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia Laura Behan 1,2,3, Borislav D. Dimitrov 4,5, Claudia E. Kuehni 6, Claire Hogg 7, Mary Carroll
More informationLU:research Institutional Repository of Lund University
LU:research Institutional Repository of Lund University This is an author produced version of a paper published in Acta Paediatrica. This paper has been peer-reviewed but does not include the final publisher
More informationEvaluation of Patients with Diffuse Bronchiectasis
Evaluation of Patients with Diffuse Bronchiectasis Dr. Patricia Eshaghian, MD Assistant Clinical Professor of Medicine Director, UCLA Adult Cystic Fibrosis Affiliate Program UCLA Division of Pulmonary
More informationThe oviductal cilia and Kartagener's syndrome*
FERTllJTY AND STERILITY Copyright c 1986 The American Fertility Society Vol. 46, No.3, September 1986 Printed in U.8A. The oviductal cilia and Kartagener's syndrome* Peter McComb, M.B. t Lynn Langley,
More informationKARTAGENER S SYNDROME A RARE CASE SERIES IN FEMALE PATIENTS
KARTAGENER S SYNDROME A RARE CASE SERIES IN FEMALE PATIENTS *Mohamed Rafi K. Department of Radiology, Vinayaka Mission s Medical College and Hospital *Author for Correspondence ABSTRACT Kartagener s syndrome
More informationPrimary ciliary dyskinesia (Kartagener syndrome) in a 38-yearold Egyptian male: A rare case
www.edoriumjournals.com case report open ACCESS Primary ciliary dyskinesia (Kartagener syndrome) in a 38-yearold Egyptian male: A rare case Motaz Badr Abdellatif Ibrahim ABSTRACT Introduction: Kartagener
More informationChronic lung disease in Canadian aboriginal children is not caused by abnormal cilia
ORIGINAL ARTICLE Chronic lung disease in Canadian aboriginal children is not caused by abnormal cilia Bruce K Rubin MD FRCPC FCCP, Vijay Kumar MB FRCPC Department of Paediatrics, Queen s University, Kingston,
More informationW J C P. World Journal of Clinical Pediatrics. Clinical spectrum of primary ciliary dyskinesia in childhood. Abstract MINIREVIEWS
W J C P World Journal of Clinical Pediatrics Submit a Manuscript: http://www.wjgnet.com/esps/ Help Desk: http://www.wjgnet.com/esps/helpdesk.aspx DOI: 10.5409/wjcp.v5.i1.57 World J Clin Pediatr 2016 February
More informationAccuracy of diagnostic testing in primary ciliary dyskinesia
ORIGINAL ARTICLE PRIMARY CILIARY DYSKINESIA Accuracy of diagnostic testing in primary ciliary dyskinesia Claire L. Jackson 1,2,7, Laura Behan 1,2,3,4,7, Samuel A. Collins 1,2,3, Patricia M. Goggin 1,5,
More informationRECONSTITUTION OF METACHRONAL WAVES IN CILIATED CORTICAL SHEETS OF PARAMECIUM
J. exp. Biol. 192, 73 81 (1994) Printed in Great Britain The Company of Biologists Limited 1994 73 RECONSTITUTION OF METACHRONAL WAVES IN CILIATED CORTICAL SHEETS OF PARAMECIUM II. ASYMMETRY OF THE CILIARY
More informationUltrastructural sperm tail defects associated with sperm immotility
FERTILITY AND STERILITY Copyright 1984 The American Fertility Society PrintRd in U.SA. Ultrastructural sperm tail defects associated with sperm immotility Roger A. Williamson, M.D. * James K. Koehler,
More informationClinical Commissioning Policy: Dornase alfa inhaled therapy for primary ciliary dyskinesia (all ages)
Clinical Commissioning Policy: Dornase alfa inhaled therapy for primary ciliary dyskinesia (all ages) Reference: NHS England: 16029/P NHS England INFORMATION READER BOX Directorate Medical Operations and
More informationPRIMARY CILIARY DYSKINESIA: CURRENT STATE OF THE ART
ADC Online First, published on July 30, 2007 as 10.1136/adc.2006.096958 PRIMARY CILIARY DYSKINESIA: CURRENT STATE OF THE ART Andrew Bush MB BS (Hons) MA MD FRCP FRCPCH, Professor of Paediatric Respirology,
More informationSitus inversus. Dr praveena pulmonology- final year post graduate
Situs inversus Dr praveena pulmonology- final year post graduate Definiton History Types Cause Clinical features Diagnosis Treatment Definition The term situs inversus is a short form of the latin phrase
More informationReview from Biology A
Chapter 4 Review from Biology A The Cell Theory All organisms are made of cells Cells come from pre-existing cells The cell is the simplest collection of matter that can live Scientists whose work you
More informationN itric oxide (NO) is generated from L-arginine by
361 SHORT PAPER Caffeine decreases exhaled nitric oxide C Bruce, D H Yates, P S Thomas... See end of article for authors affiliations Correspondence to: Dr P S Thomas, Department of Respiratory Medicine,
More informationR J M E Romanian Journal of Morphology & Embryology
Rom J Morphol Embryol 2014, 55(2 Suppl):697 701 CASE REPORT R J M E Romanian Journal of Morphology & Embryology http://www.rjme.ro/ Primary ciliary dyskinesia diagnosed by electron microscopy in one case
More informationDiagnosis of primary ciliary dyskinesia: potential options for resource-limited countries
REVIEW PRIMARY CILIARY DYSKINESIA Diagnosis of primary ciliary dyskinesia: potential options for resource-limited countries Nisreen Rumman 1,2, Claire Jackson 2,3, Samuel Collins 2,3, Patricia Goggin 3,
More informationPrimary ciliary dyskinesia: diagnosis and standards of care
Eur Respir J 1998; 12: 982 988 DOI: 10.1183/09031936.98.12040982 Printed in UK - all rights reserved Copyright ERS Journals Ltd 1998 European Respiratory Journal ISSN 0903-1936 REVIEW Primary ciliary dyskinesia:
More informationHomozygosity Mapping of a Gene Locus for Primary Ciliary Dyskinesia on Chromosome 5p and Identification of the Heavy Dynein Chain DNAH5
Homozygosity Mapping of a Gene Locus for Primary Ciliary Dyskinesia on Chromosome 5p and Identification of the Heavy Dynein Chain DNAH5 as a Candidate Gene Heymut Omran, Karsten Häffner, Alexander Völkel,
More informationQuantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study
Papon et al. Orphanet Journal of Rare Diseases 2012, 7:78 RESEARCH Open Access Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study Jean-François Papon 1,2,3,4,5,13*, Laurence
More informationMislocalization of DNAH5 and DNAH9 in Respiratory Cells from Patients with Primary Ciliary Dyskinesia
Mislocalization of DNAH5 and DNAH9 in Respiratory Cells from Patients with Primary Ciliary Dyskinesia Manfred Fliegauf, Heike Olbrich, Judit Horvath, Johannes H. Wildhaber, Maimoona A. Zariwala, Marcus
More informationAbstract. Introduction
Culture of Primary Ciliary Dyskinesia Epithelial Cells at Air-Liquid Interface Can Alter Ciliary Phenotype but Remains a Robust and Informative Diagnostic Aid Robert A. Hirst 1., Claire L. Jackson 2,3.,
More informationPrimary Ciliary Dyskinesia-Kartagener's Syndrome: A Case Report & Review of the Subject
Proceeding S.Z.P.G.MI. vol: 20(2): pp. 107-112, 2006. Primary Ciliary Dyskinesia-Kartagener's Syndrome: A Case Report & Review of the Subject Talha Mahmud and Syed Nazim Hussain Bokhari Department of Pulmonology,
More informationERS Task Force guideline for the diagnosis of primary ciliary dyskinesia
Page of 0 0 0 0 ERS Task Force guideline for the diagnosis of primary ciliary dyskinesia Lucas JS,, Barbato A, Collins SA,, Goutaki M,, Behan L,, Caudri D,, Dell S, Eber E, Escudier E 0,, Hirst RA, Hogg
More informationIn vitro culturing of ciliary respiratory cells a model for studies of genetic diseases
J Appl Genetics (2011) 52:39 51 DOI 10.1007/s13353-010-0005-1 HUMAN GENETICS REVIEW In vitro culturing of ciliary respiratory cells a model for studies of genetic diseases Zuzanna Bukowy & Ewa Ziętkiewicz
More informationThe coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation Anita Becker-Heck#, Irene Zohn#, Noriko Okabe#, Andrew Pollock#, Kari Baker Lenhart,
More informationevidence & practice / CPD / genetic disorders
evidence & practice / CPD / genetic disorders RARE DISEASES Diagnosis and management of children with primary ciliary dyskinesia Harris A (2017) Diagnosis and management of children with primary ciliary
More informationA n intact ciliated respiratory epithelium is an important
582 RESPIRATORY INFECTION Recovery of the ciliated epithelium following acute bronchiolitis in infancy J Y W Wong, A Rutman, C O Callaghan... Thorax 2005;60:582 587. doi: 10.1136/thx.2004.024638 See end
More informationAsymmetry of the central apparatus defines the location of active microtubule sliding in Chlamydomonas flagella
Asymmetry of the central apparatus defines the location of active microtubule sliding in Chlamydomonas flagella Matthew J. Wargo and Elizabeth F. Smith* Department of Biological Sciences, Dartmouth College,
More informationEuropean Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia
TASK FORCE REPORT ERS GUIDELINES European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia Jane S. Lucas 1,2, Angelo Barbato 3, Samuel A. Collins 1,2, Myrofora Goutaki 4,5,
More informationPhysiology of Parasites (512) Zoo 3(2+1) Ultrastructure of protozoa and its adaption for host cell invasion
Physiology of Parasites (512) Zoo 3(2+1) Ultrastructure of protozoa and its adaption for host cell invasion 1 Introduction protozoa Many are important nutrient cyclers. Many are photoautotrophic & make
More informationEpithelium-1. Hanan Jafar BDS.MSc.PhD
Epithelium-1 Hanan Jafar BDS.MSc.PhD General features Epithelium is an avascular tissue composed of cells that cover the exterior body surfaces and line internal closed cavities and tubes. It also forms
More informationGénétique des DCP. Deciphering the molecular bases of ciliopathies. Estelle Escudier, INSERM U 681 Serge Amselem, INSERM U 654
Génétique des DCP Estelle Escudier, INSERM U 681 Serge Amselem, INSERM U 654 Deciphering the molecular bases of ciliopathies Linkage analyses Candidate gene approaches Chromosome abnormalities Comparative
More informationevidence & practice / CPD / genetic disorders
RARE DISEASES Diagnosis and management of children with primary ciliary dyskinesia Harris A (2017) Diagnosis and management of children with primary ciliary dyskinesia.. Date of submission: 5 April 2017;
More informationASSET Student Laboratory
ASSET Student Laboratory The Effect of Cigarette Smoke and Alcohol on Tetrahymena Background Information While the general effects of smoking and alcohol use on humans are well documented, it is useful
More informationLetters to the Editor
Am. J. Hum. Genet. 64:313 318, 1999 Letters to the Editor Am. J. Hum. Genet. 64:313, 1999 Exclusion of Chromosome 7 for Kartagener Syndrome but Suggestion of Linkage in Families with Other Forms of Primary
More informationPrimary Ciliary Dyskinesia in the Dog
Primary Ciliary Dyskinesia in the Dog Wallace B. Morrison, DVM, Norman J. Wilsman, DVM, PhD, Leslie E. ox, DVM, and Cornelia E. arnum, DVM, PhD Electron microscopy was used to diagnose primary ciliary
More informationPrimary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure
Boon et al. Orphanet Journal of Rare Diseases 2014, 9:11 RESEARCH Open Access Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure
More informationA study of cilia density in sea urchin embryos during gastrulation
A study of cilia density in sea urchin embryos during gastrulation Steve Das Independent Research Project Report Bio 254 Developmental Biology May 3, 2012 Introduction Embryo growth and development is
More informationEuropean Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia
ERJ Express. Published on November 11, 2016 as doi: 10.1183/13993003.01090-2016 TASK FORCE REPORT IN PRESS CORRECTED PROOF European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia
More informationBiology. Dr. Khalida Ibrahim
Dr. Khalida Ibrahim Biology Histology: Histology: is the study of the tissues of the body. Tissue: group of similar cells combined to perform a common function. The human body is composed of only 4 basic
More informationClinical Commissioning Policy Proposition: Dornase alfa inhaled therapy for primary ciliary dyskinesia (all ages)
Clinical Commissioning Policy Proposition: Dornase alfa inhaled therapy for primary ciliary dyskinesia (all ages) Reference: NHS England E03X05/01 Information Reader Box (IRB) to be inserted on inside
More informationSome Observations on the Fine Structure of the Goblet Cells. Special Reference to the Well-Developed Agranular Endoplasmic Reticulum
Okajimas Folia Anat. Jpn., 58(4-6) : 583-594, March 1982 Some Observations on the Fine Structure of the Goblet Cells in the Nasal Respiratory Epithelium of the Rat, with Special Reference to the Well-Developed
More informationAMELIORATION OF KARTAGENER SYNDROME BY HOMOEOPATHIC THERAPEUTIC AID
Vol, Issue, Research Article AMELIORATION OF KARTAGENER SYNDROME BY HOMOEOPATHIC THERAPEUTIC AID GHOSH SHUBHAMOY*, SAHA SUBHRANIL & SENGUPTA DISHARI * Corresponding author, Head of the Department of Pathology
More informationPrimary ciliary dyskinesia (PCD) is a rare disease of children. Review. Picking up speed: advances in the genetics of primary ciliary dyskinesia
nature publishing group Picking up speed: advances in the genetics of primary ciliary dyskinesia Amjad Horani 1, Steven L. Brody 2 and Thomas W. Ferkol 1,3 Abnormal ciliary axonemal structure and function
More informationPlasma (cell) membrane
Plasma Membrane 1. Chemical composition of the plasmalemma 2. Models of cell membrane structure 3. Structure and functions of membrane proteins carriers (transporters) channels receptors 4. Cell coat (glycocalyx)
More informationUsing the Ch6diak-Higashi Marker
A Study of the Origin of Pulmonary Macrophages Using the Ch6diak-Higashi Marker Kent J. Johnson, MD, Peter A. Ward, MD, Gary Striker, MD, and Robin Kunkel, MS Using bone marrow reconstitution techniques
More informationCardiopulmonary Syndromes: Conditions With Concomitant Cardiac and Pulmonary Abnormalities
Cardiopulmonary Syndromes: Conditions With Concomitant Cardiac and Pulmonary Abnormalities Carlos S. Restrepo M.D. Professor of Radiology The University of Texas HSC at San Antonio Cardiopulmonary Syndromes
More informationSUPPLEMENTARY INFORMATION
Supplementary Information included with Nature MS 2008-02-01484B by Colantonio et al., entitled The dynein regulatory complex is required for ciliary motility and otolith biogenesis in the inner ear. This
More informationGenetic Disorders of Mucociliary Clearance
Genetic Disorders of Mucociliary Clearance Book Chapters 1. Knowles MR, Morillas HN, Leigh M, Zariwala M. Primary ciliary dyskinesia. In: Rounds S, ed. Molecular Basis of Lung Disease, Insights from Rare
More informationOriginal Article. Emergency Department Evaluation of Ventricular Shunt Malfunction. Is the Shunt Series Really Necessary? Raymond Pitetti, MD, MPH
Original Article Emergency Department Evaluation of Ventricular Shunt Malfunction Is the Shunt Series Really Necessary? Raymond Pitetti, MD, MPH Objective: The malfunction of a ventricular shunt is one
More informationThe human nasal mucosa after deprivation of airflow: A study of laryngectomy patients Edward W. Fisher 1, Valerie J. Lund 1, Andrew Rutman 2
Rhinology, 30, 5-10, 1992 The human nasal mucosa after deprivation of airflow: A study of laryngectomy patients Edward W. Fisher 1, Valerie J. Lund 1, Andrew Rutman 2 1 The Royal National Throat, Nose
More informationIdentification of predicted human outer dynein arm genes- candidates for primary ciliary dyskinesia genes
JMG Online First, published on June 3, 2005 as 10.1136/jmg.2005.033001 Identification of predicted human outer dynein arm genes- candidates for primary ciliary dyskinesia genes Gregory J. Pazour 1, Nathan
More informationPICADAR- a screening tool for primary ciliary dyskinesia
Online Supplementary file PICADAR- a screening tool for primary ciliary dyskinesia Laura Behan, Borislav D Dimitrov, Claudia Kuehni, Claire Hogg, Myrofora Goutaki, Mary Carroll, H J Evans, Amanda Harris,
More informationON THE PRESENCE OF A CILIATED COLUMNAR EPITHELIAL CELL TYPE WITHIN THE BOVINE CERVICAL MUCOSA 1
ON THE PRESENCE OF A CILIATED COLUMNAR EPITHELIAL CELL TYPE WITHIN THE BOVINE CERVICAL MUCOSA 1 R. I. Wordinger, 2 J. B. Ramsey, I. F. Dickey and I. R. Hill, Jr. Clemson University, Clemson, South Carolina
More informationBronchiectasis: An Imaging Approach
Bronchiectasis: An Imaging Approach Travis S Henry, MD Associate Professor of Clinical Radiology Cardiac and Pulmonary Imaging Section University of California, San Francisco Large Middle Small 1 Bronchiectasis
More informationDetermination of the ultrastructural pathology of human sperm by atomic force microscopy
FERTILITY AND STERILITY VOL. 75, NO. 5, MAY 2001 Copyright 2001 American Society for Reproductive Medicine Published by Elsevier Science Inc. Printed on acid-free paper in U.S.A. Determination of the ultrastructural
More informationMutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia
Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia Lucia Bartoloni*, Jean-Louis Blouin*, Yanzhen Pan,
More informationANALYSIS OF THE CILIARY GENES GAS8 AND MKS6 REVEAL CONSERVED ROLES IN CILIA MOTILITY AND TRANSITION ZONE FUNCTION. by: WESLEY R.
ANALYSIS OF THE CILIARY GENES GAS8 AND MKS6 REVEAL CONSERVED ROLES IN CILIA MOTILITY AND TRANSITION ZONE FUNCTION by: WESLEY R. LEWIS JAMES F. COLLAWN: COMMITTEE CHAIR BRADLEY K. YODER: MENTOR JOHN M.
More informationThe classical genetic and genomic approach to the pathogenesis of primary ciliary dyskinesia Geremek, Maciej
University of Groningen The classical genetic and genomic approach to the pathogenesis of primary ciliary dyskinesia Geremek, Maciej IMPORTANT NOTE: You are advised to consult the publisher's version (publisher's
More informationRelationship of Ehrlichia canis-infected Mononuclear Cells to Blood Vessels of Lungs1
INFECTION AND IMMUNITY, Sept. 1974, p. 590-596 Copyright 0 1974 American Society for Microbiology Vol. 10, No. 3 Printed in U.S.A. Relationship of Ehrlichia canis-infected Mononuclear Cells to Blood Vessels
More informationElena Moretti, Ph.D., Nicola Antonio Pascarelli, Ph.D., Maria Grazia Federico, Ph.D., Tommaso Renieri, Ph.D., and Giulia Collodel, Ph.D.
CASE REPORT Abnormal elongation of midpiece, absence of axoneme and outer dense fibers at principal piece level, supernumerary microtubules: a sperm defect of possible genetic origin? Elena Moretti, Ph.D.,
More informationAuthor Query Form. No. Query Remarks
Author Query Form Journal Title : JCN Article Number : 429856 Dear Author/Editor, Greetings, and thank you for publishing with SAGE Publications. Your article has been copyedited, and we have a few queries
More informationAxonemal Dynein Intermediate-Chain Gene (DNAI1) Mutations Result in Situs Inversus and Primary Ciliary Dyskinesia (Kartagener Syndrome)
Am. J. Hum. Genet. 68:1030 1035, 2001 Report Axonemal Dynein Intermediate-Chain Gene (DNAI1) Mutations Result in Situs Inversus and Primary Ciliary Dyskinesia (Kartagener Syndrome) Cécile Guichard, 1 Marie-Cécile
More informationLung biopsy (mucosal/transbronchial/open lung)
Lung biopsy (mucosal/transbronchial/open lung) Ernst Eber, MD Respiratory and Allergic Disease Division, Paediatric Department, Medical University of Graz, Austria ERS Task Force. Eur Respir J 2003;22:698-708.
More informationAn international registry for primary ciliary dyskinesia
ERJ Express. Published on December 8, 215 as doi: 1.1183/139933.776-215 ORIGINAL ARTICLE IN PRESS CORRECTED PROOF An international registry for primary ciliary dyskinesia Claudius Werner 1, Martin Lablans
More information