Primary ciliary dyskinesia (PCD) is an inherited disorder characterized by recurrent infections of the upper and lower respiratory tract, reduced fertility in males and situs inversus in about 50% of affected individuals (Kartagener syndrome). It is caused by motility defects in the respiratory cilia that are responsible for airway clearance, the flagella that propel sperm cells and the nodal monocilia that determine left-right asymmetry1. Recessive mutations that cause PCD have been identified in genes encoding components of the outer dynein arms, radial spokes and cytoplasmic pre-assembly factors of axonemal dyneins, but these mutations account for only about 50% of cases of PCD. We exploited the unique properties of dog populations to positionally clone a new PCD gene, CCDC39. We found that loss-of-function mutations in the human ortholog underlie a substantial fraction of PCD cases with axonemal disorganization and abnormal ciliary beating. Functional analyses indicated that CCDC39 localizes to ciliary axonemes and is essential for assembly of inner dynein arms and the dynein regulatory complex.
BackgroundThe use of quantitative PCR (qPCR) for detection of Bordetella bronchiseptica in bronchoalveolar lavage fluid (BALF) and demonstration of bacteria adhering to ciliated epithelial cells in BALF or bronchial brushing fluid (BBF) has not been assessed in a series of affected dogs. Coinfections can worsen the clinical severity in bordetellosis, but the specific association with Mycoplasma cynos has not been evaluated.ObjectivesTo assess the utility of culture, qPCR and cytologic examination of cytospin preparations in the diagnosis of bordetellosis in dogs and the influence of coinfection by M. cynos on disease severity.AnimalsTwenty‐four referred dogs with B. bronchiseptica infection and 10 healthy dogs.MethodsRetrospective case series. qPCR (B. bronchiseptica and M. cynos) and culture results from BALF were recorded. Cytospin preparations from BALF and BBF were reviewed. qPCR on BALF from 10 healthy dogs were used as negative control.ResultsThe BALF culture and qPCR detected B. bronchiseptica in 14/24 and 18/18 dogs, respectively. Coccobacilli were found adhering to ciliated epithelial cells in 20 of the 21 BALF cytologic preparations where epithelial cells were found, and 2/3 BBF cytologic preparations. Quantitative PCR detected a low level of B. bronchiseptica in one healthy dog. The frequency of detection of M. cynos was not significantly different in B. bronchiseptica (9/17 dogs) compared with healthy dogs (2/10 dogs) (P = .09).Conclusion and Clinical ImportanceQuantitative PCR detection of B. bronchiseptica in BALF appears to be a useful diagnostic tool. Cytologic examination of BALF or BBF, when positive, allows a rapid and reliable diagnosis.
Fluticasone monotherapy allows initial improvement or remission in the majority of dogs but long-term treatment fails to resolve the cough in some individuals. In addition, such therapy may induce pituitary-adrenal axis inhibition. Prospective larger and randomised studies including both fluticasone and orally-treated dogs are needed to define the optimal treatment.
Manipulations aimed at increasing the transdiaphragmatic pressure gradient during endoscopy in BAOS dogs allowed the detection of GEJ abnormalities and SHH that were not detected under standard conditions. Although MP allowed detection of SHH in more dogs than ETO, scores under MP did not correlate with digestive clinical signs. Therefore, ETO may be more accurate manipulation for the detection of GEJ abnormalities in BAOS dogs.
Pharyngeal disorders are more frequently localised in the nasopharyngeal area and include essentially choanal masses. The use of a flexible endoscope for retrograde rhinoscopy is essential for adequate investigation of the proximal nasopharyngeal area. Clinical signs do not allow differentiation of the pharyngeal disorder within the different pharyngeal areas.
The urinary bladder of four dogs with emphysematous cystitis was assessed radiographically. Ultrasonography was also performed using a 7.5-MHz microconvex probe in dorsal recumbency and in a standing position. Ultrasonographically there were bright echoes and reverberations typical of gas in all dogs. This was entrapped in the bladder wall as it appeared in the same location in recumbent and standing positions. Bladder size was reduced and bladder content was echogenic in all dogs. In only one out of the four dogs was a gas stripe seen in the bladder on radiographs. Proteus mirabilis was isolated from the urine of all patients. Diabetes was ruled out on the basis of urine and blood analysis. A small amount of gas can be difficult to detect on radiographs. Ultrasonography appears to be a more sensitive technique for detection of gas within the bladder at an early stage of emphysematous cystitis. Prevalence of emphysematous cystitis may be underestimated if only radiographs are made.
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