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PubMed1998

Role of electron microscopy of sperm in the evaluation of male infertility during the era of assisted reproduction.

OBJECTIVES: To determine whether there are indications for and benefits from electron microscopy (EM) of sperm during the era of assisted reproductive technology. METHODS: The medical history, semen analyses, and EM findings of 55 patients with pure male-factor infertility were reviewed to determine: (1) which semen characteristics (seminal volume, sperm concentration, percent motility, and percent normal morphology) were associated with normal or abnormal ultrastructure as determined by EM, (2) whether EM findings correlated with success or failure of in vitro fertilization (IVF), and (3) whether EM could screen for potentially inheritable genetic disorders. RESULTS: Principal EM diagnoses were normal sperm ultrastructure (11 of 55; 20%), tail abnormalities (21 of 55; 38%), necrospermia (12 of 55; 22%), acrosomal defects (9 of 55; 16%), neck abnormalities (1 of 55; 2%), and incomplete maturation (1 of 55; 2%). Every patient with an abnormal EM study had impaired motility (33% or below) and abnormal morphology (13% or lower normal forms by World Health Organization criteria). The percentage of normal sperm morphology differed significantly across EM diagnoses (P < 0.0001). Differences in motility across the groups could not be detected because EM was only performed on patients with impaired motility. Although the partner of 1 patient with a normal EM study who underwent IVF achieved pregnancy, 11 with abnormal EM studies failed to establish a pregnancy by IVF. Finally, 5 (11%) of 44 patients with abnormal EM findings were diagnosed with primary ciliary dyskinesia directly as a result of EM. In addition, 3 (6.8%) of the 44 patients with abnormal EM findings were diagnosed with complete acrosomal loss. CONCLUSIONS: Patients with severely abnormal motility and morphology on routine semen analysis may benefit from EM study of sperm. Our data indicate that EM findings correlate with success or failure of IVF, and that EM can screen for potentially inheritable genetic disorders.

Humans↗
PubMed1978

On the function of cilia in the female reproductive tract.

A recently discovered syndrome is characterized by congenital immotility of the cilia. It consists of chronic infections in the respiratory system, male infertility, and, in about one-half of the cases, situs inversus. The syndrome thus includes Kartagener's syndrome. The syndrome provides a unique opportunity to gain insight into the role of the cilia in the human body. Five women evidently suffering from this syndrome were examined. They had no gynecologic disorders. Three of the five women had tried to become pregnant and two have suceeded. A review of the literature indicates that men with Kartagener's syndrome are usually infertile, whereas the women are not. This fact and the data presented herein constitute strong evidence that ciliary motility is not essential for female fertility. More conclusive proof could be obtained if any of the affected women would consent to ultrastructural investigation of the oviductal cilia.

Adolescent↗
PubMedDate not supplied

Acute sensorimotor polyneuropathy with tonic pupils and an abduction deficit: an unusual presentation of polyarteritis nodosa.

A tonic pupil may occur in isolation or as part of a systemic disorder. We report a patient who developed tonic pupils and an abduction deficit in the setting of polyarteritis nodosa. The combination of a tonic pupil and an abduction deficit should suggest the possibility of a vasculopathic disorder, because the ciliary ganglion and lateral rectus muscle are both supplied by the lateral muscular artery. Widespread small artery and arteriolar narrowing and occlusion are the hallmarks of polyarteritis nodosa. Unusual ischemic syndromes may occur, such as this rare combination of neuro-ophthalmic signs, by involvement of both the nutrient artery and its collaterals. We are unaware of other reports of neuropathic tonic pupils in association with polyarteritis nodosa.

Acute Disease↗
PubMed1987

Theophylline and mucociliary clearance.

Abnormal mucociliary transport is improvement by the action of theophylline, and this effect can be attributed to several mechanisms. The drug may directly and indirectly mediate the increase in the secretory output of bronchial glands, and this effect is enhanced by the vagal gastropulmonary reflex which is stimulated by the irritant action of theophylline on the stomach. Theophylline can increase the transepithelial secretion of fluid into the respiratory tract lumen by stimulating the chloride pump which is controlled by cyclic AMP. Ciliary motility is stimulated by theophylline; most of this effect is confined to the proximal part of the respiratory tree. However, much of the improvement in mucociliary clearance may be a consequence of the bronchodilation induced by theophylline, since the improved airway patency is generally a prerequisite for enhanced mucokinesis. Nevertheless, the multiple sites of action of theophylline in the respiratory tract suggests that this drug should be considered to be of significant value in any disorder characterized by mucostasis.

Aminophylline↗
PubMed1992

Ultrastructure and movement of the ependymal and tracheal cilia in congenitally hydrocephalic WIC-Hyd rats.

The aim of the present investigation is to determine whether or not hydrocephalus occurring in hydrocephalic Wistar-Imamichi strain rats (WIC-Hyd) is caused by functional and structural disorders of ependymal cilia. Ultrastructures and movement of cilia in the ependyma of the lateral, III and IV ventricles and aqueduct of Sylvius and in the trachea walls of the animals were examined by means of scanning electron microscopy (SEM), transmission electron microscopy (TEM), and light microscopy using a phase-contrast microscope equipped with a high-speed video recording system. SEM revealed that a marked decrease in the length and number of cilia in the ependymal and tracheal walls occurred in affected male WIC-Hyd. This finding was noted even before the development of ventricular dilatation and was not related to the degree of ventricular enlargement after development of hydrocephalus. A moderate decrease in length and number of cilia was also seen among the normal ciliary tufts in affected female rats which developed a mild degree of hydrocephalus. TEM cilia findings included abnormal axonemal structures such as a lack of dynein arms and displacement of microtubules. The incidence of these ultrastructural abnormalities was found to be greater in affected male rats than in affected female rats. All cilia in affected male rats before and after development of hydrocephalus were immotile. A variety of movement disorders such as immobile, rotatory, and vibratory cilia were observed beside normally beating cilia (motile cilia) in affected female rats which never developed hydrocephalus as severe as that seen in affected male rats.(ABSTRACT TRUNCATED AT 250 WORDS)

Age Factors↗
PubMed2005

Cilia and disease.

Cilia are classified according to their microtubule components as 9+2 (motile) and 9+0 (primary) cilia. Disruption of 9+2 cilia, which move mucus across respiratory epithelia, leads to rhinitis, sinusitis and bronchiectasis. Approximately half of the patients with primary ciliary dyskinesia (PCD) have situs inversus, providing a link between left-right asymmetry and cilia. 9+0 cilia at the embryonic node are also motile and involved in establishing left-right asymmetry. Most 9+0 cilia, however, act as antennae, sensing the external environment. Defective 9+0 cilia of principal cells of the nephron cause cystic diseases of the kidney. In the rods and cones of the retina, photoreceptor discs and visual pigments are synthesized in the inner segment and transported to the distal outer segment through a narrow 9+0 connecting cilium; defects in this process lead to retinitis pigmentosa. Although the function of primary cilia in some organs is being elucidated, in many other organs they have not been studied at all. It is probable that many more cilia-related disorders remain to be discovered.

Animals↗
PubMed2004

[Kartagener's syndrome and infertility: observation, diagnosis and treatment].

Primary ciliary dyskinesia is a rare etiology of sterility in man (prevalence between 1/6000 and 1/40000). Kartagener's syndrome is an autosomal recessive disorder, characterized by total or partial dysfunction of the ciliary or flagellated cells. This syndrome associates situs inversus, sinusitis, bronchiectasis and occasionally sterility in males. We report a case of immotile cilia syndrome with male infertility and compare the data with four other couples reported in the literature (two couples in Germany, two in the United States). The difficulty is to select an alive sperm cell for ICSI.

Adult↗
PubMedDate not supplied

Bilateral tonic pupils with evidence of anti-hu antibodies as a paraneoplastic manifestation of small cell lung cancer.

INTRODUCTION: Ophthalmological manifestations of systemic malignancies can be either direct, metastatic or paraneoplastic. The latter are remote effects of carcinoma, often caused by autoantibodies. Ophthalmological manifestations include cancer-associated retinopathy, melanoma-associated retinopathy, opsoclonus-myoclonus syndrome or motility disorders due to effects on the neurological system. A unilateral tonic pupil is usually a benign finding but has also been described in the context of paraneoplastic syndromes, in some cases associated with anti-Hu antibodies. CASE REPORTS: The authors describe 2 patients with bilateral symptomatic tonic pupils due to a paraneoplastic syndrome. Both patients had been treated for small cell lung cancer and had evidence of anti-Hu antibodies (autoantibodies against nuclei of neural cells) in serum and cerebrospinal fluid. Both had typical pupillary findings and hypersensitivity to diluted pilocarpine. The first patient also had sensory neuronopathy, the second affection of several cranial nerves. DISCUSSION: To the best of our knowledge, to date no case of bilateral tonic pupils has been published due to a paraneoplastic disorder with evidence of autoantibodies. This is surprising, as it is probable that autoantibodies in paraneoplastic disorders affect both ciliary ganglions in a similar way.

Aged↗
PubMed1995

Situs inversus and ciliary abnormalities. What is the connection?

The finding of men with living but immotile sperm tails has initiated a search for the cause of the disorder. The sperm tails were found to lack dynein arms or to have some other ultrastructurally visible defect and the cilia were found to have the same defects. The disorder was hence named the immotile-cilia syndrome. Two more groups with the same clinical symptoms were later found, characterized by ciliary dysmotility or ciliary aplasia. In each group there are several subgroups. Many of the affected persons have situs inversus totalis; in some subgroups the incidence of situs inversus is probably 50%; there is, thus, a random determination of visceral asymmetry. Five hypotheses have been forwarded that attempt to explain the connection between ciliary defects and loss of laterality control. Support for, or evidence against, these five hypotheses have been sought in some animal models of the syndrome. Whereas immotile-cilia syndrome in dogs and pigs is very similar to the human one, an animal model in the rat differs from the human syndrome in that mainly the males are affected. Two animal models in the mouse differ in that one has ciliary defects but no increased incidence of situs inversus and the other has a random determination of visceral laterality and no ciliary defects. The connection between ciliary defects and random determination of laterality remains enigmatic.

Animals↗
PubMed2005

Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia.

RATIONALE: Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by recurrent infections of the airways and situs inversus in half of the affected offspring. The most frequent genetic defects comprise recessive mutations of DNAH5 and DNAI1, which encode outer dynein arm (ODA) components. Diagnosis of PCD usually relies on electron microscopy, which is technically demanding and sometimes difficult to interpret. METHODS: Using specific antibodies, we determined the subcellular localization of the ODA heavy chains DNAH5 and DNAH9 in human respiratory epithelial and sperm cells of patients with PCD and control subjects by high-resolution immunofluorescence imaging. We also assessed cilia and sperm tail function by high-speed video microscopy. RESULTS: In normal ciliated airway epithelium, DNAH5 and DNAH9 show a specific regional distribution along the ciliary axoneme, indicating the existence of at least two distinct ODA types. DNAH5 was completely or only distally absent from the respiratory ciliary axoneme in patients with PCD with DNAH5- (n = 3) or DNAI1- (n = 1) mutations, respectively, and instead accumulated at the microtubule-organizing centers. In contrast to respiratory cilia, sperm tails from a patient with DNAH5 mutations had normal ODA heavy chain distribution, suggesting different modes of ODA generation in these cell types. Blinded investigation of a large cohort of patients with PCD and control subjects identified DNAH5 mislocalization in all patients diagnosed with ODA defects by electron microscopy (n = 16). Cilia with complete axonemal DNAH5 deficiency were immotile, whereas cilia with distal DNAH5 deficiency showed residual motility. CONCLUSIONS: Immunofluorescence staining can detect ODA defects, which will possibly aid PCD diagnosis.

Axonemal Dyneins↗
PubMed1979

Cilia with defective radial spokes: a cause of human respiratory disease.

We studied the fine structure of respiratory-tract cilia in three siblings with chronic respiratory disease, comparing them with those from a patient with Kartagener's syndrome who had dynein-deficient cilia and with control patients who had chronic bronchitis or chronic sinusitis. Electron microscopy of the siblings revealed a new abnormality in the ciliary axoneme--namely, lack of the radial spokes. Their cilia showed an eccentric central pair of tubules but otherwise had a normal central sheath, outer-doublet microtubules, nexin links and dynein arms. The cilia were immotile. Mucociliary clearance was completely lacking in the three siblings and in the patient with Kartagener's syndrome, but was normal in their parents and unaffected siblings. Sperm from the male sibling showed identical structural abnormalities and were immotile. We consider the radial spoke defect to be the congenital anomaly responsible for dysfunction of the mucociliary clearance mechanism in these three patients and of the immotile sperm in one of the them. This defect is apparently another cause of the "immotilecilia syndrome."

Adult↗
PubMedDate not supplied

Nitric oxide in the nasal airway: a new dimension in otorhinolaryngology.

The discovery that the gas nitric oxide (NO) is an important signaling molecule in the cardiovascular system earned its Nobel prize in 1998. NO has since been found to play important roles in a variety of physiologic and pathophysiologic processes in the body including vasoregulation, hemostasis, neurotransmission, immune defense, and respiration. The surprisingly high concentrations of NO in the nasal airway and paranasal sinuses has important implications for the field of otorhinolaryngology. NO provides a first-line defense against micro-organisms through its antiviral and antimicrobial activity and by its upregulation of ciliary motility. Nasal treatments such as polypectomy, sinus surgery, removal of hypertrophic adenoids and tonsils, and treatment of allergic rhinitis may alter NO output and, therefore, the microbial colonization of the upper airways. Nasal surgery aimed at relieving nasal obstruction may do the same but would also be expected to improve pulmonary function in patients with asthma and upper airway obstruction. NO output rises in a number of conditions associated with chronic airway inflammation, but not all of them. Concentrations are increased in asthma, allergic rhinitis, and viral respiratory infections, but reduced in sinusitis, cystic fibrosis, primary ciliary dysfunction, chronic cough, and after exposure to tobacco and alcohol. Therefore, NO, similar to several other inflammatory mediators, probably subserves different functions as local conditions dictate. At present, it seems that the measurement of NO in the upper airway may prove valuable as a simple, noninvasive diagnostic marker of airway pathologies. The objective of this review is to highlight some aspects of the origin, physiology, and functions of upper airway NO, and to discuss the particular methodological problems that result from the complex anatomy.

Humans↗
PubMed1981

Genetical and ultrastructural aspects of the immotile-cilia syndrome.

The immotile-cilia syndrome is a congenital disorder characterized by all cilia in the body being either immotile or showing an ineffective beating pattern. Most symptoms, not unexpectedly, come from the ciliated epithelia, but two further symptoms are: (1) male sterility caused by the spermatozoa being unable to swim progressively (the sperm tail has the same structure as a cilium), and (2) situs inversus in 50% of the cases possible caused by an inability of embryonic cilia to shift the heart to the left side. By electron microscopy, one can see directly which of the many ciliary components is the missing one. The molecular basis of this congenital defect can then be detected, and it has been found to be a heterogeneous disease. There are many genes that, when mutated, will cause the cilia to be dysfunctional or totally immotile. The fact that many genes may be responsible for the syndrome will also explain why it has a relatively high prevalence and why previous investigators have been unable to locate the (assumed single) gene by linkage analysis. The trait, situs inversus, is of particular interest as it occurs in only 50% of the assumed homozygotes. I conclude that the wild-type genes code for a control of the proper body asymmetry and the mutated ones for a lack of control, and, hence, to a random situs determination.

Animals↗
PubMed2003

Post-traumatic pseudomyopia.

BACKGROUND: Many clinicians have noted that patients demonstrate a myopic refractive change following Traumatic Brain Injury (TBI). This apparent myopic shift disappears with cycloplegia, yet stubbornly reappears as soon as the pharmaceutical effect wears off. We propose that this shift is secondary to an irritative lesion that affects the parasympathetic innervation, resulting in ciliary body contracture. The dilemma for the clinician is whether to provide the immediate relief of clear distance vision by prescribing additional minus lenses, or to work toward attempting to re-establish the baseline refractive error. CASE REPORTS: The natural history of post-traumatic pseudomyopia in our experience involves one of the following three courses: (1) a transient condition that will occasionally resolve; (2) the typical case, a recalcitrant condition that will resolve under cycloplegic intervention, but immediately return as the cycloplegic wears off; or (3) a less-common subgroup of patients who continue to show an increase in myopia over time. Our description of these cases demonstrates management strategies (including atropinization) to relax accommodative spasm, traditional vision therapy techniques aimed at loosening the accommodative system, and refractive corrections. CONCLUSIONS: Pseudomyopia is one of many ocular and behavioral sequelae following TBI. By understanding the natural course and potential management options for post-traumatic pseudomyopia, the clinician will be better prepared to deal with these challenging cases. Flexibility is required, since options that work with one patient may prove ineffective with another. Counseling the patient as to potential outcomes given the natural history of this condition helps establish more-realistic expectations by the patients being treated.

Accommodation, Ocular↗