Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0034067 (emphysema)
 11,506 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 28-year-old man with Noonan syndrome associated with unilateral hyperlucent lung is reported. He had the typical craniofacial appearance and short stature of Noonan syndrome; he had mild mental retardation, atrophic testis, mild funnel chest and kyphosis. cardiovascular abnormalities included asymmetric hypertrophic cardiomyopathy and a significantly different caliber of the left and right pulmonary arteries. The unilateral hyperlucent lung was shown to result from acquired nondestructive emphysema caused by nonvalvular obstruction of the bronchi (Swyer-James syndrome or Macleod's syndrome). To the authors' knowledge, this is the first reported case of Noonan syndrome associated with Swyer-James syndrome.
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PMID:Swyer-James syndrome associated with Noonan syndrome: report of a case. 854 36

Feline polycystic kidney disease (PKD) is an inherited disorder caused by the mutation of PKD1 gene that eventually lead to the development of chronic kidney disease. The latter condition causes hypertension and eventually progress into congestive heart failure. Feline parvovirus (FPV) is a highly contagious and often fatal disease infecting cats and other members of Felidae. An 8-month-old female domestic shorthair cat was presented with complaint of wound dehiscence a day after ovarian hysterectomy procedure. The wound at the suture site appeared necrotic, purulent with foul smell. The cat was found to have diarrhoea during the fixation of suture breakdown and, later, was tested positive with parvovirus infection. Complete blood count revealed anaemia, neutrophilia, lymphopenia and thrombocytosis. Biochemistry profiles showed hypoproteinaemia and elevated of urea and creatinine. The cat was hospitalised, and symptomatic treatments were given. During hospitalisation, the cat showed symptoms of polydipsia and polyuria and found dead 2 days later. Post-mortem findings demonstrated the cat had oral ulceration, thoracic effusion, fibrinopleuropneumonia, pericardial effusion, left ventricular hypertrophy and right ventricular dilation, chronic passive liver congestion, mesenteric lymphadenomegaly, intestinal haemorrhage, adrenomegaly and polycystic kidney. Histopathological evaluation revealed fibrinous pleuropneumonia, pulmonary atelectasis, emphysema and oedema, hypertrophic cardiomyopathy, hepatic necrosis, splenic necrosis, intestinal necrosis, renal necrosis and renal polycystic. Staphylococcus aureus and Escherichia coli were isolated from bronchus swab and intestinal segment, respectively. Polymerase chain reaction (PCR) revealed parvovirus infection. The cat was definitely diagnosed with polycystic kidney disease concurrent with parvoviral and secondary bacterial infections.
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PMID:Polycystic kidney disease concurrent with feline parvovirus and bacterial infections in domestic shorthair cat: a case report. 3301 78