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PubMed2002

Primary ciliary dyskinesia: age at diagnosis and symptom history.

UNLABELLED: Age at diagnosis and the symptom history of children with primary ciliary dyskinesia (PCD) are described by reviewing the case notes in the paediatric PCD clinic. Mean age at diagnosis was 4.4 y despite a history of neonatal respiratory distress in 37/55 cases, situs inversus in 38/55 cases and early onset troublesome rhinitis in 42/55. CONCLUSION: Diagnosis of PCD is often delayed despite the presence of typical symptoms early in life. The key clinical features of unexplained neonatal respiratory distress, early onset rhinitis, situs inversus and a productive cough are highlighted, which, especially when occurring in combination, makes early referral for specific testing for PCD mandatory.

Adolescent↗
PubMed1999

Ciliary motility at light microscopy: a screening technique for ciliary defects.

To verify whether or not ciliary motility can be reliably assessed by light microscopy alone, we examined the nasal brushings of 53 patients with suspected ciliary dyskinesia and 10 healthy controls. The results of light microscopy were compared with cilia ultrastructure assessed with electron microscopy. Ciliary motility was significantly related with cilia ultrastructure. However, eight cases of lung disease due to bronchiectasis of unknown origin had immotile cilia on light microscopy, but normal ciliary ultrastructure on electron microscopy. Instances of normal and abnormal ultrastructure were detected in one case with motile cilia. There was an 83% agreement between electron microscopy and light microscopy. Sensitivity and specificity of light microscopy were 92% and 80%, respectively. In conclusion, light microscopy evaluation of ciliary motility does not appear to be a reliable screening test for ciliary dyskinesia because it does not quantify ciliary beat activity, which is a criterion for deranged ciliary motion. A complete evaluation of ciliary ultrastructure together with in vivo, if applicable, or in vitro function test (namely, the analysis of ciliary beat frequencies and/or waveform) is required for a definite diagnosis of ciliary dyskinesia.

Adolescent↗
PubMed2001

Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome).

Kartagener syndrome (KS) is a trilogy of symptoms (nasal polyps, bronchiectasis, and situs inversus totalis) that is associated with ultrastructural anomalies of cilia of epithelial cells covering the upper and lower respiratory tracts and spermatozoa flagellae. The axonemal dynein intermediate-chain gene 1 (DNAI1), which has been demonstrated to be responsible for a case of primary ciliary dyskinesia (PCD) without situs inversus, was screened for mutation in a series of 34 patients with KS. We identified compound heterozygous DNAI1 gene defects in three independent patients and in two of their siblings who presented with PCD and situs solitus (i.e., normal position of inner organs). Strikingly, these five patients share one mutant allele (splice defect), which is identical to one of the mutant DNAI1 alleles found in the patient with PCD, reported elsewhere. Finally, this study demonstrates a link between ciliary function and situs determination, since compound mutation heterozygosity in DNAI1 results in PCD with situs solitus or situs inversus (KS).

Alleles↗
PubMed2000

Impairment of airway mucociliary transport in patients with sinobronchial syndrome: role of nitric oxide.

Nitric oxide (NO) produced within the respiratory tract can stimulate ciliary motility of airway epithelial cells and hence mucociliary transport. In this study, to determine the role of NO in mucociliary dysfunction in sinobronchial syndrome (SBS), we measured NO concentrations in the exhaled air by chemiluminescence analyzer and nasal clearance time (NCT) by saccharin test. Exhaled NO concentrations in patients with SBS were 39% of those in healthy nonsmokers and 55% of those in healthy smokers. The patients also showed prolonged NCT compared with healthy subjects, and there was a significant negative correlation between exhaled NO concentrations and NCT. Furthermore, concentrations of chloride (Cl) in the sputum supernatant were higher in SBS patients than in healthy subjects, and there was a significant negative correlation between sputum Cl concentrations and exhaled NO concentrations. These results suggest that airway mucociliary clearance is impaired in patients with SBS and that this impairment might result from the reduced production of NO and the impaired availability of the molecule in the mucociliary apparatus.

Adult↗
PubMed2006

Ciliary function and the role of cilia in clearance.

The lungs and the nasal passages are continually exposed to respiratory pathogens, toxins, and particulate matter, and have evolved a very effective defense system to protect themselves. Mucociliary clearance is an essential part of this defence and relies on appropriate interactions between the ciliated epithelium, the height of the periciliary fluid, and mucus. Mucus acts as a physical barrier, trapping inhaled particles and pathogens, whilst cilia move both the mucus layer and fluid in the underlying periciliary layer. These defenses may be disrupted by viral and bacterial infections, by inhaled toxins, and by inherited diseases such as primary ciliary dyskinesia and cystic fibrosis.

Cilia↗
PubMed1986

Primary ciliary dyskinesia with transverse colon carcinoma.

Primary ciliary dyskinesia, characterized by chronic airway infection, impaired fertility, and situs inversus in half the number of cases, was detected in a 58-year-old Japanese woman, along with carcinoma of the transverse colon. She was of complete situs inversus and subfertile and had chronic bronchitis and nasal polyposis. Ultrastructurally, the cilia of the nasal mucosa lacked dynein arms. This is the first documentation of this disease coupled with cancer.

Adenocarcinoma↗
PubMed1998

Effects of normobaric oxygen on ciliary beat frequency of human respiratory epithelium.

Respiratory infection is a major cause of morbidity after general anaesthesia. Impairment of respiratory ciliary beat frequency (CBF) by different stress factors causes a decrease in mucus transport rate (MTR). We have tested the effect of different concentrations of oxygen on CBF of human respiratory epithelium in a prospective, randomized, in vitro study. Samples of superficial mucosa of the inferior nasal turbinates of 20 non-smoking healthy volunteers were harvested and exposed to three different oxygen environments (group I = 21% oxygen, group II = 60% oxygen and group III = 95% oxygen) for 2 h. In 50% of the samples, exposure time was prolonged. At 30, 60, 90, 120 and 240 min, light microscopic images of cilia activity were videotaped and CBF was later assessed in slow motion. Compared with baseline, group I showed no difference in CBF throughout the study. CBF was increased in group II from mean 9.7 (SD 0.4) to 11.2 (0.4) Hz (16%, P < 0.001) and in group III from 9.5 (0.6) to 12.1 (0.5) Hz (28%, P < 0.001) at 120 min. After 240 min of exposure to 95% oxygen, the CBF trend in group III was reduced to 11.8 (0.6) Hz but still remained above baseline. We conclude that oxygen appeared to have a dose- and time-dependent accelerating effect on CBF. Prolonged exposure to high oxygen concentrations reversed this trend. Direct oxygen toxicity ("oxygen stress") is a possible explanation for this effect. These changes may result in impaired MTR.

Cilia↗
PubMed2001

Disruption of an inner arm dynein heavy chain gene results in asthenozoospermia and reduced ciliary beat frequency.

Impaired ciliary and flagellar functions resulting in male infertility and recurrent respiratory tract infections are found in patients suffering from primary ciliary dyskinesia (PCD). In most cases, axonemal defects are present, i.e. PCD patients often lack inner and/or outer dynein arms in their sperm tails and cilia, supporting the hypothesis that mutations in dynein genes may cause PCD. However, to date it is unclear whether mutations in dynein heavy chain genes are responsible for impaired flagellar and ciliary motility in mammals. To elucidate the role of the mouse dynein heavy chain 7 (MDHC7) gene, which encodes a component of the inner dynein arm, we have generated mice lacking this dynein heavy chain isoform. Both MDHC7(+/-) and MDHC7(-/-) mice are viable and show no malformations; however, homozygous males produce no offspring. In comparison to MDHC7(+/-) and wild-type mice the spermatozoa of MDHC7(-/-) mice revealed a dramatic reduced straight line velocity and progressive movement, resulting in the inability of MDHC7-deficient sperm to move from the uterus into the oviduct. Additionally, we measured the beat frequency of tracheal cilia and observed a decrease in the beat frequency of approximately 50% in MDHC7(-/-) mice. The reduction in both ciliary and flagellar motility is not correlated with any gross defects in the axonemal structure. The phenotype of MDHC7(-/-) mice is similar to that observed in some patients suffering from PCD, and our data strongly suggest that in some patients this disease could be due to mutations in the homologous human gene DNAH1 (HDHC7).

Animals↗
PubMed1998

Two rights make a wrong: human left-right malformations.

Like all vertebrates, humans establish anatomical left-right asymmetry during embryogenesis. Variation from this normal arrangement (situs solitus) results in heterotaxy, expressed either as randomization (situs ambiguus) or complete reversal (situs inversus) of normal organ position. Familial heterotaxy occurs with autosomal dominant, recessive and X-linked inheritance. All possible situs variants, solitus, ambiguus and inversus, can appear among some heterotaxy families. Positional cloning has led to the identification of a gene on the X chromosome responsible for some cases of human heterotaxy. Additional candidate genes have emerged from recent studies of left-right axis development in chick, frog and mouse, which have begun to elucidate a tightly regulated genetic cascade that differentiates the left and right sides prior to the appearance of morphological asymmetry.

Animals↗
PubMed1998

Indications for intracytoplasmic sperm injection.

Intracytoplasmic sperm injection (ICSI) is the latest of several microfertilization techniques that have been utilized predominantly to overcome severe male subfertility, giving fertilization and term pregnancy rates similar to conventional in-vitro fertilization (IVF) (but for other indications). Even though available data on children born after ICSI are very encouraging, the procedure must still be considered as novel and the safety aspect to a great extent unexplored. In our opinion, therefore, ICSI should only be used for specific indications, and in this communication the non-existent, relative and absolute indications for performing ICSI are outlined and discussed. With an apparently normal sperm sample, ICSI should not be used in a first cycle even if only few oocytes are obtained. When there is reason to suspect poor fertilization, ICSI can be used in combination with conventional IVF in a split cycle. This includes cases of 'subnormal' sperm samples, high titres of antisperm antibodies, or following a single cycle of poor fertilization using conventional IVF. Absolute indications for ICSI include two previous fertilization failures with conventional IVF, use of epidiymal or testicular sperm samples, or when only acrosomeless or immotile spermatozoa are available. The fertilization of oocytes prior to preimplantation genetic diagnosis is another absolute indication. It is, however, important to keep in mind that for this novel technique, indications should not be rigid, but remain variable with respect to new findings.

Ciliary Motility Disorders↗
PubMed1989

Human fertilization by micro-injection of immotile spermatozoa.

Microfertilization of human oocytes with spermatozoa from a man with immotile cilia syndrome is reported, confirming a preliminary investigation where a zona-free donor oocyte was fertilized with spermatozoa from the same patient. Oocytes from his spouse were obtained by laparoscopy after routine stimulation with clomiphene citrate, human menopausal and chorionic gonadotrophins, and were cultured for 4-6 h in Whittingham's T6 medium, supplemented with 10% of her serum. The spermatozoa were washed and processed in the same medium and capacitated for 6-8 h before micromanipulation. Three of five mature oocytes were fertilized by micro-injection of a single immotile spermatozoon into the perivitelline space. One oocyte produced a two-pronuclear ovum assessed 19 h after injection, while the other two produced 2-cell embryos with blastomeres of equal size, 22 h after injection. These embryos cleaved to 3-8-cell stages in culture before embryo replacement. No pregnancy resulted from embryo transfer. The results conclusively demonstrate that human oocytes can be fertilized successfully with immotile spermatozoa by micro-injection and the work has profound implications in the treatment of severe male infertility.

Adult↗
PubMed1990

'9 + 0' axoneme in spermatozoa and some nasal cilia of a patient with totally immotile spermatozoa associated with thickened sheath and short midpiece.

A patient is described with 100% immotile spermatozoa. The sperm cells lack the central pair of microtubules or the complete axoneme. This defect is associated with a thickened fibrous sheath and a shortened midpiece containing defective mitochondria. Fifteen per cent of the nasal cilia of this patient lack the central pair of microtubules. Eighteen similar cases have been described in the literature suggesting that this association of ultrastructural defects may be considered a syndrome.

Adult↗
PubMed2005

Bronchiectasis: the consequence of late diagnosis in chronic respiratory symptoms.

Bronchiectasis is still common among some developing countries like Turkey. The aim of this study was to document the number of children with non-cystic fibrosis (CF) bronchiectasis, to evaluate the risk factors and to emphasize early diagnosis and treatment. All children, except those diagnosed with CF, with bronchiectasis established by chest radiogram, bronchography and/or computed tomography or biopsy material, were retrospectively reviewed. They were tested for serum total eosinophil count, nasal smear, serum levels of immunoglobulins A, G, M, E, and serum alpha-1 antitrypsin level. Pulmonary function tests, rigid bronchoscopy, nasal biopsy, lung scintigraphy, and echocardiogram were also performed. There were 204 patients whose most common presenting symptoms were cough, sputum expectoration, and dyspnea. Bronchiectasis was present mostly in the left lower lobe. The cause could not be determined in 49 per cent of patients. Among the identified causes, infection was present in most patients, followed by asthma, primary ciliary dyskinesia, congenital immune deficiency, and foreign body aspiration. It is possible to prevent bronchiectasis in children with vaccinations and improved nutrition in developing countries. Early diagnosis and treatment will increase the quality of life and survival of patients with bronchiectasis, which has irreversible and progressive complications if untreated.

Asthma↗
PubMed2000

Effects of a heat and moisture exchanger and a heated humidifier on respiratory mucus in patients undergoing mechanical ventilation.

OBJECTIVE: To evaluate the effects of a heat and moisture exchanger and a heated humidifier on respiratory mucus and transportability by cilia and cough in patients undergoing invasive mechanical ventilation (up to 72 hrs). DESIGN: Prospective, randomized, clinical study. SETTING: General intensive care unit and university research laboratory. PATIENTS: A total of 32 consecutive patients with acute respiratory failure, who were intubated and mechanically ventilated in the intensive care unit setting, were enrolled in the study. INTERVENTIONS: Patients were randomly assigned to receive as a humidifying system a heat and moisture exchanger (HME) or heated humidified water (HHW) at the onset of mechanical ventilation (time 0). Respiratory mucus samples were collected by suction using a sterile technique at time 0, 24, 48, and 72 hrs of mechanical ventilation. MEASUREMENTS AND MAIN RESULTS: Eleven patients were excluded from this study because of either extubation or death before 72 hrs of mechanical ventilation, leaving 12 patients in the HME group and nine patients in the HHW group. Ventilatory variables including minute volume, mean airway pressure, positive end-expiratory pressure, Fio2, as well as Pao2/Fio2 ratio, fluid balance (last 6 hrs), furosemide, and inotrope administration (last 4 hrs) were recorded. In vitro mucus transportability by cilia was evaluated on the mucus-depleted frog palate model, and the results were expressed as the mucus transport rate. Cough clearance (an estimation of the interaction between the flow of air and the mucus lining the bronchial walls) was measured using a simulated cough machine, the results being expressed in millimeters. Mucus wettability was measured by the contact angle between a mucus sample drop and a flat glass surface. Mucus rheologic properties (mechanical impedance [log G*] and the ratio between viscosity and elasticity [tan delta]) were measured using a magnetic microrheometer at 1 and 100 cGy/sec deformation frequency. The two humidification groups were comparable in terms of the Acute Physiology and Chronic Health Evaluation II score, age, gender, ventilatory variables, fluid balance, use of inotropes, and furosemide. CONCLUSION: Ours results indicate that air humidification with either HME or HHW at 32 degrees C (89.6 degrees F) has similar effects on mucus rheologic properties, contact angle, and transportability by cilia in patients undergoing mechanical ventilation, except for transportability by cough, which diminished after 72 hrs of mechanical ventilation in the HME group (p = .0441).

APACHE↗
PubMed1997

Pediatric functional endoscopic sinus surgery: is a second look necessary?

Functional endoscopic sinus surgery (FESS) has become the surgical procedure of choice for the treatment of chronic sinusitis that is refractory to medical treatment. It has become routine to perform endoscopy in children under general anesthesia 2 to 3 weeks after FESS to facilitate examination and cleaning of the operative site. We compared the clinical outcome of 50 children who underwent FESS without a second-look endoscopy with 50 children who underwent a routine second look. Patients with systemic disease (cystic fibrosis, immotile ciliary syndrome, immunoglobulin deficiency) or undergoing a revision procedure were excluded from the study. The results show that the postoperative improvement in nasal obstruction, nasal drainage, and chronic cough was the same for both groups. We conclude that in the vast majority of children without systemic disease and not undergoing a revision procedure, a second endoscopic procedure may not offer any apparent advantage.

Adolescent↗
PubMed1998

Nasal ciliary beat frequency is age independent.

OBJECTIVES: Evaluate the age-dependency of ciliary beat frequency (CBF) in biopsies after ciliogenesis in culture. STUDY DESIGN: Retrospective analysis of CBF and ciliary ultrastructure in biopsies and after ciliogenesis from 203 individuals, aged 3 months to 74 years. METHODS: All patients with successful culture were included. Ciliogenesis was obtained using the sequential monolayer-suspension culture technique for dissociated nasal epithelial cells. CBF was measured using computerized microscope photometry. Secondary ultrastructural abnormalities were evaluated in transmission electron microscopy. RESULTS: There was no correlation between age and CBF, in either the biopsies (7.0 +/- 2.6 Hz; n = 113) or after ciliogenesis in culture (8.1 +/- 1.3 Hz; n = 203). Even in individuals older than 70 years, CBF was normal in bioptic material (6.7 +/- 1.7 Hz) and after ciliogenesis in culture (7.9 +/- 1.0 Hz). Also, in individuals less than 1 year of age CBF was normal in biopsies as well as after ciliogenesis. CBF correlated inversely with the percentage of secondary ultrastructural abnormalities in the biopsies as seen with transmission electron microscopy: 8.1 +/- 1.8 Hz when ciliary ultrastructure was normal and 3.5 +/- 3.3 Hz in cases of severe secondary ciliary dyskinesia. After ciliogenesis in culture, ciliary ultrastructure was always normal, as was CBF. CONCLUSION: CBF is age independent but correlates with secondary ultrastructural abnormalities. CBF after ciliogenesis in culture is the intrinsic one.

Adolescent↗