ABSTRACT
Primary ciliary dyskinesia (PCD) is a rare genetic disease characterized by dyskinetic cilia. Respiratory symptoms usually start at birth. The lack of diagnostic gold standard tests is challenging, as PCD diagnostics requires different methods with high expertise. We founded PCD-UNIBE as the first comprehensive PCD diagnostic center in Switzerland. Our diagnostic approach includes nasal brushing and cell culture with analysis of ciliary motility via high-speed-videomicroscopy (HSVM) and immunofluorescence labeling (IF) of structural proteins. Selected patients undergo electron microscopy (TEM) of ciliary ultrastructure and genetics. We report here on the first 100 patients assessed by PCD-UNIBE. All patients received HSVM fresh, IF, and cell culture (success rate of 90%). We repeated the HSVM with cell cultures and conducted TEM in 30 patients and genetics in 31 patients. Results from cell cultures were much clearer compared to fresh samples. For 80 patients, we found no evidence of PCD, 17 were diagnosed with PCD, two remained inconclusive, and one case is ongoing. HSVM was diagnostic in 12, IF in 14, TEM in five and genetics in 11 cases. None of the methods was able to diagnose all 17 PCD cases, highlighting that a comprehensive approach is essential for an accurate diagnosis of PCD.
ABSTRACT
Hookworms infection is a soil-transmitted helminthic disease particularly endemic in developing counties of tropical regions. It is attributed mainly to two human pathogens nematodes namely Necator americanus and Ancylostoma duodenale. Although the disease has been characterized as "neglected" is very diffi cult to be eliminated and the economic consequences are great. Worms are fed with blood of hosts in small intestine and cause typically iron deficiency anemia with relevant symptoms as well as eosinophilia. Patients admitted in emergency department claim often diffuse general symptoms, whereas cases with obscure gastrointestinal bleeding can be seen. Within this brief review, after introducing some basic elements of hookworms' epidemiology, taxonomy and socioeconomic problem is emphasized, pathogenesis, and life cycle of parasite are concisely explained. Furthermore, clinical manifestations often or rarely seen in emergency department are described. Therapeutic options are also enclosed. Awareness of the problem and critical thinking of patients coming from endemic regions could result to identifying more hookworm cases and their therapy will efficiently alleviate not only the patients per se but health system and societies as well.
