Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019079 (hemoptysis)
 6,129 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Primary ciliary dyskinesia (PCD), previously known as immotile cilia syndrome, is an autosomal recessive hereditary disease that includes various patterns of ciliary ultrastructural defects. The most serious form is Kartagener syndrome (KS), which accounts for 50% of all cases of PCD. The incidence of PCD ranges from 1:20,000 to 1:60,000. Since PCD causes deficiency or even stasis of the transport of secretions throughout the respiratory tract, it favors the growth of viruses and bacteria. As a result, patients have lifelong chronic and recurrent infections, typically suffering from bronchitis, pneumonia, hemoptysis, sinusitis, and infertility. Bronchiectasis and other chronic conditions infections can be the end result of the irreversible bronchial alterations, leading to chronic cor pulmonale and its consequences. Only half of the patients affected by PDC present all of the symptoms, a condition designated complete KS, compared with incomplete KS, typically defined as cases in which situs inversus does not occur. The diagnosis is made clinically and confirmed through transmission electron microscopy. Since there is no specific therapy for PCD, it is recommended that, upon diagnosis, secondary infections be treated with potent antibiotics and prophylactic interventions be implemented. In this paper, we report six cases of PCD (five cases of complete KS and one case of KS) and review the related literature, focusing on the diagnostic, therapeutic and clinical aspects of this disease.
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PMID:Primary ciliary dyskinesia: considerations regarding six cases of Kartagener syndrome. 1802 60

Bronchiectasis, or the irreversible dilatation of bronchi, can present with a host of nonspecific clinical symptoms, including hemoptysis, cough, and hypoxia. The radiologist, then, can play an important role in its detection and characterization. Bronchiectasis must be differentiated from motion artifact and transient bronchial dilatation in acute lung disease. When diagnosed, a logical approach may allow for proper triage of the patient to prevent progression of disease. The radiologic approach usually begins with CT, which is fast and accurate. The diagnostic approach should be based on the mechanisms of development of bronchiectasis (bronchial wall damage, endobronchial obstruction, and traction) and the location. Once an endobronchial lesion or adjacent fibrosis is excluded, location of the abnormality can be used to help narrow the differential diagnosis. When the bronchiectasis is upper lobe predominant, CF should first be considered but occasionally MAC infection may present with this finding. When the bronchiectasis is mid-upper lobe, then ABPA or chronic hypersensitivity pneumonitis might lead the list of diagnoses. Lower lobe bronchiectasis is usually the sequela of recurrent infection and conditions that predispose to recurrent infections, including Mounier-Kuhn, hypogammaglobulinemia, PCD, and recurrent infections. By using this approach, the radiologist can remain an integral part of the pulmonary team.
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PMID:Bronchiectasis. 1924 57