Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0010200 (cough)
 23,843 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This report describes an infant with clinical features consistent with the yellow nail syndrome (YNS), a rare autosomal dominant disorder. He presented at birth with congenital lymphoedema and was referred at 6 months of age for investigation of recurrent cough and wheeze. He had clinical and radiological evidence of bilateral pleural effusions and a pericardial effusion. Following a lung biopsy and pericardial window these were shown to be manifestations of his lymphatic abnormality. He also had persisting middle ear effusions causing conductive deafness requiring hearing aids and secondary immunodeficiency requiring regular immunoglobulin infusions.
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PMID:Yellow nail syndrome in infancy. 940 96

We report a case of nasopharyngeal carcinoma with Chest Metastasis in a 38-year-old man. The patient presented with nasal obstruction, epistaxis, a huge neck mass and conductive hearing loss in the right ear. Examination under anaesthesia revealed a mass in the nasopharynx, which was confirmed on histology to be squamous carcinoma. He responded remarkably well to external radiotherapy with disappearance of primary tumor and neck metastasis. One year later he presented with thoraco-lumbar spine pain and cough. The nasopharynx and neck remained free of tumor while radiographs demonstrated multiple metastasis to the lungs and vertebrae.
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PMID:Nasopharyngeal carcinoma with distant metastasis. 1192 69

Although the triad of bronchiectasis, sinusitis and situs inversus was first described by Kartagener in 1933, the clinical spectrum of primary ciliary dyskinesia is still under investigation. Heterotaxy defects as well as upper and lower respiratory tract symptoms are the main manifestations in childhood. It is now recognized that situs inversus is encountered in only half of patients. The first lower respiratory symptoms may be present from infancy as neonatal respiratory distress. The most common lower airway manifestations are chronic wet cough, recurrent pneumonia and therapy resistant wheezing. Patients are at risk of developing bronchiectasis which may even be the presenting finding due to delayed diagnosis. Upper respiratory tract infections such as nasal congestion, nasal drainage and recurrent sinusitis as well as otologic manifestations such as otitis media or otorrhea with conductive hearing loss are also often encountered. It seems that the type of ciliary ultrastructure defects and the involved mutated genes are associated to some extent to the clinical profile. The disease, even in nowadays, is not recognized at an early age and the primary care clinician should have knowledge of its clinical spectrum in order to select appropriately the children who need further investigation for the diagnosis of this disorder.
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PMID:Clinical spectrum of primary ciliary dyskinesia in childhood. 2686 2

Primary ciliary dyskinesia (PCD) is a rare inherited autosomal recessive or X-linked disorder that mainly affects lungs. Dysfunction of respiratory cilia causes symptoms such as chronic rhinosinusitis, coughing, rhinitis, conductive hearing loss and recurrent lung infections with bronchiectasis. It is now well known that pathogenic genetic changes lead to ciliary dysfunction. Here we report usage of clinical-exome based NGS approach in order to reveal underlying genetic causes in cohort of 21 patient with diagnosis of PCD. By detecting 18 (12 novel) potentially pathogenic genetic variants, we established the genetic cause of 11 (9 unrelated) patients. Genetic variants were detected in six PCD disease-causing genes, as well as in SPAG16 and SPAG17 genes, that were not detected in PCD patients so far, but were related to some symptoms of PCD. The most frequently mutated gene in our cohort was DNAH5 (27.77%). Identified variants were in homozygous, compound heterozygous and trans-heterozygous state. For detailed characterization of one novel homozygous genetic variant in DNAI1 gene (c. 947_948insG, p. Thr318TyrfsTer11), RT-qPCR and Western Blot analysis were performed. Molecular diagnostic approach applied in this study enables analysis of 29 PCD disease-causing and related genes. It resulted in mutation detection rate of 50% and enabled discovery of twelve novel mutations and pointed two possible novel PCD candidate genes.
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PMID:Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants. 3030 Apr 19