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Kartagener's syndrome is a rare genetic disorder of primary ciliary dyskinesia characterized by the triad of bronchiectasis, sinusitis, and situs inversus. There is limited data on the role of Kartagener's syndrome leading to psychotic manifestations. We would like to discuss the case of a 26-year-old male, who presented to us with psychotic symptoms of 4-year duration. Upon detailed physical examination and pertinent investigations, he was diagnosed to be having Kartagener's syndrome. He was treated with antipsychotics and benzodiazepines. This case highlights the importance of a thorough physical examination and eliciting medical history, as it may lead to the finding of various syndromes that have been said to be associated with schizophrenia, thereby contributing to its genetic hypothesis. The neurological, biochemical, and structural malformations seen in Kartagener's syndrome may also lead to psychotic manifestations. They could be genetically linked to loci contributing to an increased risk of psychosis.

Kartagener’s syndrome is a rare genetic disorder of primary ciliary dyskinesia characterized by the triad of bronchiectasis, sinusitis, and situs inversus. There is limited data on the role of Kartagener’s syndrome leading to psychotic manifestations. We would like to discuss the case of a 26-year-old male, who presented to us with psychotic symptoms of 4-year duration. Upon detailed physical examination and pertinent investigations, he was diagnosed to be having Kartagener’s syndrome. He was treated with antipsychotics and benzodiazepines. This case highlights the importance of a thorough physical examination and eliciting medical history, as it may lead to the finding of various syndromes that have been said to be associated with schizophrenia, thereby contributing to its genetic hypothesis. The neurological, biochemical, and structural malformations seen in Kartagener’s syndrome may also lead to psychotic manifestations. They could be genetically linked to loci contributing to an increased risk of psychosis. [ABSTRACT FROM AUTHOR]

Aim: Primary ciliary dyskinesia (PCD) is a rare (1:15 000) condition resulting in recurrent suppurative respiratory tract infections, progressive lung damage and hearing impairment. As the diagnosis is often delayed for years, the purpose of this studywas to reviewthe presenting features of children with PCD attending Australia's initial diagnostic PCD service over a 30-year period. Method: A retrospective review of the symptoms of children diagnosed with PCD at Concord Hospital between 1982 and 2012 was undertaken. Results: One thousand thirty-seven paediatric patients were referred for assessment and underwent nasal ciliary brushing. Eighty-four (8.1%) had PCD based on microscopic analysis of nasal cilia. This included 81 with ciliary ultrastructural abnormalities demonstrated on electron microscopy and 3 with a suggestive phenotype, reduced ciliary beat frequency and a family history of PCD. The median age at diagnosis was 6.4 years (range 0.1 to 18.2 years). Forty-six per cent had situs abnormalities and 31% had a family member with PCD. Recurrent cough (81%), rhinosinusitis (71%), recurrent otitis media (49%) and neonatal respiratory distress (57%) were reported. Bronchiectasis at presentation was documented in 32%. Situs abnormalities and neonatal respiratory distress were present together in 26%. Conclusion: PCD remains under-recognised by health-care workers. The combination of neonatal respiratory distress, chronic suppurative cough and rhinosinusitis was the most common documented symptom cluster at presentation in cases of PCD. A heightened awareness of the clinical features of the disease may help to lower the age at diagnosis, facilitate appropriate treatment and improve long-term outcomes. [ABSTRACT FROM AUTHOR]

Objective/Hypothesis: Ciliary wave disorder (CWD) is essential for effective mucociliary transport. The purpose of this study was to investigate morphologic and functional restoration in recovered sinus mucosa after 12 weeks of experimentally induced rhinosinusitis and regenerated sinus mucosa after mechanical injury. Study Design: Prospective study with animal models. Methods: Ten New Zealand white rabbits weighing between 2.5 and 3 kg were used for this experiment. In the recovered mucosa group (n = 5), the natural ostium of the maxillary sinus was closed with a synthetic sponge and removed 2 weeks later. In the regenerated sinus mucosa group (n = 5), maxillary sinus mucosa was stripped off through the anterior wall. Left sinus mucosae were used as controls. Twelve weeks postoperatively, ciliary beat frequency (CBF) and CWD were measured using an image analysis system. Morphologic changes in cilia were also observed using a scanning electron microscope (SEM). Results: The average CBFs in control, recovered, and regenerated mucosa were 13.21 ± 3.66 Hz, 13.20 ± 3.53 Hz, and 14.16 ± 3.87 Hz, respectively. The average CWDs in these groups were 8.46 ± 4.4, 21.04 ± 14.73, and 24.43 ± 19.2, respectively. SEM showed that loss of cilia and irregularities of ciliary arrangements were prominent in regenerated sinus mucosa. Conclusion: Although 12 weeks is enough for morphologic regeneration of the ciliated epithelium after experimental sinusitis in rabbit maxillary sinuses, it does not appear long enough for full functional recovery. Restoration of CBFs does not equate to concurrent CWD restoration. [ABSTRACT FROM AUTHOR]

Objective: To review children's primary ciliary dyskinesia (PCD) in the pathogenesis, clinical manifestation, diagnosis and treatment. Method: To summarize and analyze the clinical data of a patient who was admitted to the first affiliated hospital of Xiamen University with primary ciliary dyskinesia in April 2014 while referring to related literature. Result: An 11 years old boy, weighting about 22 kg, had a course of more than 10 years with repeated cough, stuffy and runny nose shortly after the birth. Examinations after admission to hospital showed that he presented with visible clubbing, bilateral paranasal sinus area tenderness, pharynx posterior wall with visible yellow pussy stuff drip and bilateral lung had scattered wet rales. Auxiliary examination revealed bilateral maxillary sinus, ethmoid sinus inflammation and bronchitis with left lower lung bronchiectasis. Fiberoptic bronchoscopy discovered congestion and a lot of sputum; ciliary biopsy pathology displayed that cilia were sparse and partial cilia 9+ 2 microtubules structural abnormalities. Full sequence of exon gene sequencing revealed two mutations located at chromosome 16 chr16: 71061369 (non-coding regions) and chr16: 70993591 (coding). Two novel mutations m. 3362A>G(E20) and c. 6101G>A(E39) in exon 16 of the HYDIN gene were identified. With the" ciliary motility disorder, gene" as keywords , the CNKI, Wanfang digital knowledge service platform and PubMed were searched for relevant articles from the establishment to July 2016. The studies retrieved included 9 cases and these cases were summarized. Comprehensive analysis showed that HYDIN gene mutations related PCD patients had the typical PCD performance such as repeatedly wet cough, sinusitis, bronchiectasis, and otitis media. The majority of patients have a history of acute respiratory distress syndrome in infancy and no visceral dislocation was not found. Most of the patients had no obvious structural abnormalities in cilia electron microscopic examination. Conclusion: The PCD patients with HYDIN genes mutations have clinical manifestations such as sinusitis, otitis media, bronchiectasis but without transposition of viscera. Cilia structure can be normal under the electron microscopic examination in some of patients.