1/92. Failure of fertilization after intracytoplasmic sperm injection in a patient with Kartagener's syndrome and totally immotile spermatozoa: case report. patients with Kartagener's syndrome (KS) are invariably infertile with totally immotile spermatozoa. Intracytoplasmic sperm injection (ICSI) is considered to be the treatment of choice for patients with immotile spermatozoa. We report the second KS case in the literature from whom immotile spermatozoa from the ejaculate failed to fertilize mature oocytes after ICSI. The role of micromanipulation in the treatment of KS patients is discussed. ( info) |
2/92. Left middle lobe resection for bronchiectasis in Kartagener's syndrome. We report the case of a young girl with Kartagener's syndrome who suffered from severe bronchiectasis confined to the left middle lobe. Due to chronic abscedation which failed to respond to medical therapy, resection of the left middle lobe was performed. Although there was an initial clinical benefit, afterwards she had to be treated again for recurrent infectious exacerbations. ( info) |
| This paper reports on the successful treatment by in-vitro fertilization (IVF) of a couple in whom the male partner had Kartagener's syndrome. His spermatozoa were severely asthenozoospermic with deficient dynein arms and disordered microtubular configuration. On computer-assisted sperm analysis (CASA) motile spermatozoa displayed straight non-progressive motility with minimal amplitude of lateral head displacement and none were hyperactivated. This is the first case report in which spermatozoa with axonemal disruption in a man with immotile cilia syndrome (ICS) have been shown to be able to penetrate the zona pellucida and fertilize oocytes. IVF may be a suitable treatment for certain variants of ICS. ( info) |
| The association of diffuse bronchiolitis in patients with Kartagener's syndrome (KS) has not been reported previously. The aim of this study was to present the morphological characteristics of bronchiolitis in patients with KS. Eight patients (four males, four females; mean age 37.9 /-18.7 yrs), clinically diagnosed as KS with the classical triad of chronic pansinusitis, bronchiectasis and situs in versus with dextrocardia, were evaluated. Routine chest radiography showed bronchiectasis and dextrocardia in all patients. Chest computed tomography (CT) showed diffuse centrilobular small nodules up to 2 mm in diameter throughout both lungs in six out of eight patients. Pulmonary function tests revealed marked obstructive impairment in all patients (forced expiratory volume in one second 57.0 /-11.3%, residual volume/total lung capacity 45. /-12.7%, maximum midexpiratory flow 0.92 /-0.72 L x s(-1), forced vital capacity 74.1 /-12.2% (all mean /- SD)). The examination of cilial movement of the bronchus revealed immotility in all of the five patients examined. The ultrastructure showed ciliary dynein arm defects in all patients. Histopathological examination of lung specimens obtained at autopsy or by video-assisted thoracoscopic surgery showed obliterative thickening of the walls of the membranous bronchioli with infiltration of lymphocytes, plasma cells and neutrophils, but most of the distal respiratory bronchioli were spared and alveolar spaces were overinflated. Pathologically, the diffuse centrilobular small nodules on the chest CT mainly corresponded to membranous bronchiolitis. This is the first report demonstrating that the association of diffuse bronchiolitis might be one of the characteristic features of the lung in Kartagener's syndrome. ( info) |
5/92. Kartagener's syndrome with corrected transposition. Conducting system studies and coronary arterial occlusion complicating valvular replacement. An 18-year-old man whose sister has classic Kartagener's syndrome was found to have sinusitis, bronchiectasis, and corrected transposition with normal visceral situs. Congenital complete heart block was secondary to absence of conducting-system pathways between a small posterior atrioventricular node and the transposed His bundle and bundle branches. No anterior atrioventricular node was present. Prosthetic valvular replacement of the left-sided (morphologic right) atrioventricular valve was complicated by coronary arterial occlusion by suture, with subsequent myocardial infarction. The case appears to represent an unusual variant of Kartagener's syndrome with the abnormality of laterality being expressed as corrected transposition. ( info) |
6/92. Surgical treatment of bronchiectasis in Kartagener's syndrome. A case of Kartagener's syndrome in which bilateral partial pulmonary resection was performed is reported. The literature concerning the surgical treatment of severe bronchiectasis is reviewed. ( info) |
7/92. Primary ciliary dyskinesia syndrome associated with abnormal ciliary orientation in infants. Primary ciliary dyskinesia (PCD) syndrome associated with abnormal ciliary orientation but with normal ciliary ultrastructure has been described in adults, but there are no normal ranges for orientation in infants, despite the fact that half of all patients with PCD present in the new-born period. Nasal brush biopsies were obtained from eight infants (three males), mean age 13.1 months, range 7-23, in order to determine ciliary orientation. They had no upper or lower airway disease and normal organ arrangement and were undergoing general anaesthesia for other reasons. Two infants with typical PCD syndrome but normal ultrastructure of individual cilia also had orientation studies. In the eight normal subjects, a mean of 254 central pairs was examined, range 82-453. The mean ciliary orientation was 14.9 degrees, range 12.9-17.5. The two infants with PCD syndrome but normal ultrastructure of individual cilia had ciliary orientation of (Case 1) 44.5 degrees (range 10.6-64.5) in 218 central pairs; and on a second occasion, 28.9 degrees, (range 9.0-47.5) in 259 central pairs; for Case 2, 24.4 degrees, (range 13.1-38.4) in 196 central pairs. The normal range for ciliary orientation is similar in infants to that described in other work in adults. The two cases of phenotypic primary ciliary dyskinesia in the presence of normal ciliary ultrastructure but abnormal ciliary orientation in infants supports the contention that measurement of ciliary orientation should be part of the assessment of ciliary structure and function in cases of possible primary ciliary dyskinesia, in particular when the ultrastructure of individual cilia appear to be normal. ( info) |
| We report the case of a 66-year-old caucasian woman affected by Kartagener's syndrome (KS), a genetically transmitted disorder characterised by situs viscerum inversus, bronchiectasis and sinusitis, who also developed rheumatoid arthritis (RA). The impaired mucociliary function typical of KS caused recurrent paranasal sinus and lung infections, as shown by CT scans of the sinuses and chest. The coexistence of KS and RA in our patient was probably accidental. Given the small number of patients in whom an association of the two disorders has been described, it is impossible to establish whether KS might play a role in the pathogenesis of RA. ( info) |
9/92. Birth after intracytoplasmic sperm injection with use of testicular sperm from men with Kartagener/immotile cilia syndrome. OBJECTIVE: To describe two cases of in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) with testicular sperm in men with immotile cilia syndromes. DESIGN: Case report. SETTING: A university-based male infertility clinic and assisted reproduction unit. PATIENT(S): Two couples with male factor infertility due to Kartagener/immotile cilia syndrome. INTERVENTION(S): IVF/ICSI with testicular sperm. MAIN OUTCOME MEASURE(S): semen characteristics, sperm viability, fertilization rate, and pregnancy. RESULT(S): With testicular sperm, the two pronuclear fertilization rates were 63% and 60% in two cases. One case resulted in the birth of normal healthy girl. CONCLUSION(S): With testicular sperm, successful oocyte fertilization after ICSI in couples with male Kartagener/immotile cilia syndrome is possible despite the lack of sperm motility. ( info) |
10/92. Anaesthesia for Kartagener's syndrome. Kartagener's syndrome is a hereditary syndrome involving a combination of dextrocardia (situs inversus), bronchiectasis and sinusitis, transmitted as an autosomal recessive trait. We describe a patient who had three anaesthetics over a period of a few months. Discussion relates to anaesthetic considerations in the syndrome and to recent findings relating to the molecular mechanisms of left-right development. ( info) |