Disease relevance of ICS1

• The diagnosis is based on the occurrence of chronic sinopulmonary infections, persistent azoospermia, normal spermatogenesis, and characteristic epididymal findings, as well as exclusion of cystic fibrosis and the immotile-cilia syndrome [1].
• Bronchiectasis in the immotile-cilia syndrome [2].
• The immotile-cilia syndrome. A congenital ciliary abnormality as an etiologic factor in chronic airway infections and male sterility [3].
• The results support the hypothesis that a congenital defect in the cilia and sperm tails will cause chronic respiratory-tract infections and male sterility--the immotile-cilia syndrome [3].
• Recurrent respiratory disease, azoospermia, and nasal polyposis. A syndrome that mimics cystic fibrosis and immotile cilia syndrome [4].

High impact information on ICS1

• The function of members of the dynein superfamily whose existence has previously only been confirmed through genome databases, has been revealed by studies of immotile cilia syndrome [5].
• The immotile-cilia syndrome is an autosomal recessive disease of the microtubules of ciliated cells and spermatozoa, and possibly also of neutrophil leukocytes; it affects approximately 1 in 20,000 people [6].
• A genetic error of the respiratory cilia (9 + 2) is the cause of the airways disease named immotile-cilia syndrome (or PCD), whereas defective ependymal cilia (9 + 2) carries an increased risk of hydrocephalus [7].
• The chimpanzee is a potential animal model for nasal polyposis that could provide basic information concerning the relationship of polyps to type I hypersensitivity and to three severe respiratory tract disorders in humans: cystic fibrosis, bronchial asthma, and the immotile cilia syndrome [8].
• Abnormal movement of polymorphonuclear neutrophils in the Immotile Cilia Syndrome. Cinemicrographic analysis [9].

Biological context of ICS1

• HLA haplotype segregation and ultrastructural study in familial immotile-cilia syndrome [10].
• Genetics and pulmonary medicine. 6. Immotile cilia syndrome: past, present, and prospects for the future [11].
• Twenty-one patients with immotile cilia syndrome have been evaluated from the standpoint of history, clinical presentation, radiologic changes, pulmonary function tests, and mucociliary clearance [12].
• Moreover, impaired neutrophil chemotaxis was found in some patients with selective IgA deficiency (five cases) or immotile cilia syndrome (seven cases) [13].
• The genetics of the immotile cilia syndrome has been analyzed in a series of 46 affected individuals from 38 families [14].

Anatomical context of ICS1

• A case of infertility secondary to necrospermia was reinvestigated and reclassified as the "immotile cilia syndrome". The immotile spermatozoa were viable but motionless owing to an ultrastructural defect of the tail characterized by absence of microtubular dynein sidearms [15].
• Aplasia of nasal cilia with situs inversus, azoospermia and normal sperm flagella: a unique variant of the immotile cilia syndrome [16].
• This location suggests that a mutation at the TUBB locus could be the cause for certain forms of HLA-linked microtubule dysfunction, including immotile cilia syndrome [17].
• 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 [18].
• Four of five dogs with ICS had dilated lateral ventricles [19].

Associations of ICS1 with chemical compounds

• Concomitant asthma/allergy medication use was similar in children adding montelukast or 'other' controllers (hICS, LABA, ICS + LABA), while children with allergic rhinitis on montelukast used less AB [20].
• Human respiratory cilia, including those in seven cases of immotile cilia syndrome, were examined by transmission electron microscopy after tannic acid-containing fixation [21].
• Measurement of transit time of a droplet of Tc-99m phytate on the nasal mucosa appears to differentiate patients with immotile cilia syndrome from normal controls [22].

Other interactions of ICS1

• The motilin gene: subregional localisation, tissue expression, DNA polymorphisms and exclusion as a candidate gene for the HLA-associated immotile cilia syndrome [23].
• Genomic organization of the HSET locus and the possible association of HLA-linked genes with immotile cilia syndrome (ICS) [24].
• In four patients with immotile cilia syndrome without Kartagener's triad, immotile respiratory cilia generally lacked the inner dynein arms [25].
• Neutrophil migration and orientation under agarose: findings in patients with the immotile cilia syndrome and effects of cytochalasin B and vinblastine [26].

Analytical, diagnostic and therapeutic context of ICS1

• Ultrastructure of respiratory cilia of WIC-Hyd male rats. An animal model for human immotile cilia syndrome [27].
• ICS should be considered in the differential diagnosis of slowly progressive chronic lung disease, sinusitis, and otitis [28].
• The immotile cilia syndrome: phase contrast light microscopy, scanning and transmission electron microscopy [29].
• Therapeutic approach of immotile cilia syndrome by intracytoplasmic sperm injection: a case report [30].
• The importance of early diagnosis and management is stressed; the ultrastructural abnormalities are present at birth in newborns with the immotile cilia syndrome [31].

References