Primary ciliary dyskinesia (PCD) is a hereditary disease characterized by airway mucociliary clearance dysfunction. The estimated prevalence of PCD is 1꞉10 000 to 1꞉20 000. The main respiratory manifestations in children are cough, expectoration, chronic rhinitis, sinusitis, and chronic otitis media, while the most common symptoms in adults are chronic sinusitis, bronchiectasis, and infertility. About 50% of patients with certain PCD-related gene variants are combined with situs inversus, and the incidence of congenital heart disease is also high. The pathogenesis behind PCD is that gene variants cause structural or functional disorders of respiratory cilia and motile cilia of other organs, leading to a series of heterogeneous clinical manifestations, which makes it difficult to identify and diagnose PCD. Combining different disease screening tools and understanding the relationship between genotypes and phenotypes may facilitate early diagnosis and treatment for PCD.
Chronic Disease ; Cilia/pathology* ; Humans ; Kartagener Syndrome/genetics* ; Phenotype ; Sinusitis

OBJECTIVE: To characterize explore the feature of nasal mucosa ultrastructure changes after prolonged allergen challenge and to examine the relationships between nasal airway hyperresponsivity and ultrastructure ciliates changing. METHOD: We prepared rat allergic rhinitis for ovalbumin. Rats were subsequently challenged two times a week with ovalbumin from day 16 to day 42, 56, 112 and 140. We examined allergen-induced nasal symptoms and objective nasal symptoms using evaluation of symptoms and EOS. Moreover, the pathologic changes were investigated after allergen challenge. RESULT: The extended allergen challenge protocol caused significant nasal ultrastructure changing. Specifically, ultrastructure changing were characterized by disordered Ciliated cells and some sticky integrated, dumping of epithelium ciliates, even some loss. Allergen-induced nasal symptoms were first increased but gradually decreased in nasal symptoms after prolonged allergen challenge. CONCLUSION We have demonstrated that ultrastructure changes of nasal mucosa ciliates in a rat allergic rhinitis model prolonged allergen exposure. Moreover, prolonged allergen exposure induced a reduction of nasal symptoms together with a progression of nasal mucosa ciliates damaging.
Animals ; Cilia ; ultrastructure ; Female ; Male ; Nasal Mucosa ; pathology ; ultrastructure ; Rats ; Rats, Sprague-Dawley ; Rhinitis, Allergic, Perennial ; pathology

Cilia ; pathology ; Endometrial Hyperplasia ; complications ; pathology ; Endometrial Neoplasms ; complications ; pathology ; Endometrium ; pathology ; Fallopian Tubes ; pathology ; Female ; Humans ; Metaplasia ; classification ; complications ; pathology

Duplication is a rare congenital abnormality and may occur in any region of the gastrointestinal tract. A 19-year-old woman was admitted due to lower abdominal pain. Abdomino-pelvic CT scan showed a cystic mass interpreted as mesenteric cyst or duplication cyst. On the operation finding, it seemed to be arised from mesentery but attached to the ileum. Microscopically, the cystic wall was lined by non-keratinizing squamous, ciliated pseudostratified columnar epithelium, and ectopic gastric mucosa with two distinct muscular layers and a serosa. We report the first case of ileal duplication cyst lined by squamous and ciliated columnar epithelium in Korea.
Cilia/pathology ; Cysts/*congenital/pathology/radiography ; Epithelium/pathology ; Female ; Humans ; Ileal Diseases/*diagnosis/pathology/radiography ; Ileum/*abnormalities/pathology ; Tomography, X-Ray Computed ; Young Adult

Epiblepharon is a commonly encountered congenital anomaly in Asian infants and children. It causes symptoms of ocular irritation and inferior punctate corneal epithelial erosion. Surgical correction may be needed if ocular irritation symptom and corneal pathology persist with age. A series of 185 lower eyelid epiblepharon in 98 Korean children underwent lower eyelid crease reforming technique. Surgical treatment included excision of redundant skin and pretarsal orbicularis muscle with lid everting suture by anastomosis of the subcutaneous tissue and inferior tarsal border including capsulopalpebral fascia. With a minimum follow-up of 12 months, a total of 37 [20%]eyelids developed recurrence of cilia touch, and then 9 [4.8%]eye-lids needed further surgery.
Asian Continental Ancestry Group ; Child ; Cilia ; Eyelids* ; Fascia ; Follow-Up Studies ; Humans ; Infant ; Pathology ; Recurrence ; Skin ; Subcutaneous Tissue ; Sutures

OBJECTIVE: To observe ultrastructure of maxillary sinus mucosa of experimental acute sinusitis in rabbits. METHOD: Twenty-five rabbits were randomly divided into experimental group (20 rabbits) and blank control group (5 rabbits). We established a rhinogenic model of experimental acute sinusitis in experimental group. Five rabbits chosen randomly in experimental group were sacrificed and dissected after 1, 2, 3, and 4 weeks, and the tissue (0.3 cm x 0.3 cm) of sinus mucosa were prepared for visualization by transmission electron microscope (TEM). Animals in blank control group were sacrificed after 1 week. RESULT: Under the transmission electron microscope, in the blank control group, cilia of maxillary sinus mucosa lined up in order without ciliary loss, no stretched endoplasmic reticulum or turgescent mitochondria was observed. However, in the experimental group, inordinate array and loss of cilia was observed, a few compound cilia and cytoplasmic protrusion were also found. Both endoplasmic reticulum and mitochondria were swelling, and the lymphocytes were infiltrating with fibroblast proliferation in the submucosa. There was statistically significant difference between the experimental group and the blank control group (P < 0.05). In the experimental group, the number of compound cilia increased from 1 to 4 weeks, and the amount of compound cilia of the mucosa at 3 and 4 weeks was significantly higher than that at 1 week (P < 0.05). Swelling of mitochondria and endoplasmic reticulum was severe at 2 weeks and abated gradually with time, the results at 2 weeks were different from those of experimental group at 4 weeks (P < 0.05). CONCLUSION The obstruction of nasal sinuses and the bacterial infection might lead to ultrastructural changes of maxillary sinus mucosa, and these ultrastructural changes were believed to the important processes of pathological changes in acute sinusitis.
Acute Disease ; Animals ; Cilia ; ultrastructure ; Maxillary Sinus ; ultrastructure ; Maxillary Sinusitis ; pathology ; Microscopy, Electron, Scanning Transmission ; Mucous Membrane ; ultrastructure ; Rabbits ; Sinusitis ; pathology

OBJECTIVE: To investigate the effects of intranasal steroid on nasal mucosa in rat model of allergic rhinitis (AR). METHOD: Thirty-six SD rats were randomly divided into three groups (each included 12 rats): the intranasal steroid group(group A),the allergic rhinitis group(group B) and the normal control group(group C). AR model was reproduced by ovalbumin in group A and B. The control group was allergized by NS instead of ovalbumin. Group A was used steroid spray in nasal and Group B and C was used normal saline. Then ,after the last provocation,the allergic symptoms were evaluated,the number of eosinophil (EOS) of the rats' nasal mucosa was counted under hematoxylineosin staining and the goblet cells was counted under alcian blue-periodic acid-Schiff staining. The morphological changes of the rats' nasal mucosa were observed by scanning electron microscope. RESULT: Compared with group B,the inhibition of nasal symptoms was found after used of steroid spray in group A. The EOS and the goblet cells in group A was significantly different with that in Group B (P < 0.05), but no significant differences compared with group C (P > 0.05). Observed by scanning electron microscope, the cilia of the epithelium in group B were significantly lodging, disoriented, winding and secreting,while the cilia of the epithelium in Group A and C had similar appearance. CONCLUSION Intranasal steroid spray can relieve symptoms and inflammatory conditions of nasal mucosa in allergic rhinitis, and can repair injured nasal mucosa cilia.
Androstadienes ; pharmacology ; Animals ; Anti-Inflammatory Agents ; pharmacology ; Cilia ; ultrastructure ; Disease Models, Animal ; Inflammation ; Nasal Mucosa ; drug effects ; pathology ; Rats ; Rats, Sprague-Dawley ; Rhinitis, Allergic, Perennial ; drug therapy ; pathology

OBJECTIVE: To investigate the ultrastructural changes of the mucosa of eustachian tube in mice and to reveals the influence of eustachian tube on middle ear function and its relavence with otitis media. METHOD: 12 wild type and 12 mutant mice were divided into two groups by age to observe the the ultrastructural changes of the mucosa of eustachian tube. RESULT: Wild type mice exhibited a thick lawn of morphologically normal, distributed cilia in the mucosa of the middle ear at both time points. The cilia of mucosa of middle ear in mutant mice were short, impaired and disrupted. The impairment of the cilia progressed to a much great severity at 6 months compared to 3 months. CONCLUSION Otitis media occurs not only the ciliated cells decreased and the goblet cells increased. More importantly, the ciliary structure was damaged, leading to the dysfunction of the mucociliary transport system and causing otitis media.
Animals ; Cilia ; pathology ; ultrastructure ; Disease Models, Animal ; Ear, Middle ; pathology ; Eustachian Tube ; pathology ; ultrastructure ; Goblet Cells ; Mice ; Microscopy, Electron, Scanning ; Mucociliary Clearance ; Mucous Membrane ; pathology ; ultrastructure ; Otitis Media ; pathology

OBJECTIVETo investigate the clinical features, diagnosis and treatment of primary ciliary dyskinesia (PCD).

METHODSThree cases of PCD received endoscopic sinus surgery and were followed up for life quality and recovery. Among these 3 cases, two were twin brothers and the other girl was twin born with a healthy brother. The mucosa of inferior turbinate was extracted prior to the operation without narcotic and decongestant. The ultrastructure of mucosal cilia was detected with electron microscope. Nine exons of gene DNAH5 and chromosome in one case and her fraternal twin were evaluated.

RESULTSNasal and sinus CT imaging of the 3 cases showed chronic pansinusitis (1 case accompanied with situs inversus according with the diagnosis of Kartagener syndrome). The nasal polyp was resected, and the sinuses were opened. The twin brothers received the adenoidectomy. All patients felt nasal ventilation improved while the surgical field still covered with thick discharges during follow-up for 2 - 4 years. Ciliary ultrastructures of the three cases showed lateral dynein absent, the sequence of 9 exons of DNAH5 and chromosome presented no change in the fraternal twins.

CONCLUSIONSSurgery could improve the symptoms of sinusitis in PCD. Change of ciliary ultrastructure was an important indication of its pathological changes and molecular biology evaluation needs further study.

Axonemal Dyneins ; metabolism ; Child ; Cilia ; ultrastructure ; Exons ; Female ; Humans ; Kartagener Syndrome ; diagnosis ; genetics ; pathology ; Male ; Sinusitis ; diagnosis ; etiology ; genetics ; Young Adult

OBJECTIVETo analyze the clinical characteristic of Kartagener syndrome in Chinese and foreign children.

METHODFour cases of Kartagener syndrome diagnosed in our hospital were analyzed with literature review. The differences between Chinese and foreign children in clinical manifestations and diagnosis were compared.

RESULTAll of the cases had the following clinical manifestations: recurrent productive cough, nasosinusitis, dextrocardia, total situs inversus and bronchiectasia. Situs inversus of the airway structure was visible under the bronchoscope, and electron microscopy of the respiratory mucosa showed an abnormal ciliary ultrastructure. By using "Kartagener syndrome" and "child" as the key words, reports on 55 Chinese cases and 61 foreign cases in children were retrieved from CNKI and PubMed databases. The average age of diagnosis was 9.16 ± 3.67 years in China, which was significantly later than 7.07 ± 4.92 years in foreign countries (t=2.642, P<0.01). The main clinical manifestations were recurrent productive cough, nasosinusitis or rhinopolyp, recurrent pulmonary infection, recurrent wheezing and otitis media. Sinus imaging showed maxillary sinusitis. Dextrocardia, total situs inversus and bronchiectasia were found on thoracic and abdominal CT. The ciliary ultrastructural analysis showed shorter and missing dynein arm (6/6 cases in China and 25/27 cases in foreign) .

CONCLUSIONThe clinical manifestations are recurrent upper and lower respiratory tract infection combined with dextrocardia or other situs inversus in both China and other countries. The diagnosis abroad relied more on abnormal ciliary ultrastructure observed under electron microscopy, but in China mainly relied on its typical clinical manifestations.

Asian Continental Ancestry Group ; Child ; China ; Cilia ; ultrastructure ; Humans ; Kartagener Syndrome ; diagnosis ; ethnology ; Lung ; pathology ; ultrastructure ; Microscopy, Electron ; Respiratory Tract Infections ; diagnosis ; Situs Inversus ; diagnosis