Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0032285 (pneumonia)
 54,520 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A previously unrecognized autosomal dominant syndrome affecting oral, nasal, vaginal, urethral, anal, bladder, and conjunctival mucosa with cataracts, follicular keratosis, nonscarring alopecia, and terminal lung disease is described in a four-generation kindred of German extraction. Severe photophobia, tearing, and nystagmus in infancy heralds the development of keratitis, corneal vascularization, and lens cataracts. Repeated corneal transplants have failed. Red, periorificial mucosal lesions involving the above structures are noted by 1 year of age and may persist throughout life. Chronic rhinorrhea and repeated upper respiratory infections frequently progress to bilateral pneumonia accompanied by loss of hair, diarrhea, occasional melena, enuresis, pyuria, and hematuria. Spontaneous pneumothorax is frequent, terminating in fibrocystic-type lung disease and cor pulmonale. Women have had repeated abnormal vaginal PAP smears. Histologically the mucosal epithelium shows dyshesion, thinning of the epithelial layer, and dyskeratosis. Mucosal PAP smears show lack of epithelial maturation, cytoplasmic vacuoles and inclusions, and individual cell dyskeratosis. Histochemically there is a lack of cornification and keratinization. Ultrastructural studies show lack of keratohyalin granules, a paucity of desmosomes, intercellular accumulations, cytoplasmic vacuolization, and formation of bands and aggregates of filamentous fibers and structures in the cytoplasm resembling desmosomes and gap junctions. The condition is probably a panepithelial cell defect of desmosomal and gap junction structure most prominently affecting mucosal epithelia associated with an increased susceptibility to a variety of adventitious organisms.
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PMID:Hereditary mucoepithelial dysplasia: a disease apparently of desmosome and gap junction formation. 48 50

Cryptococcus neoformans is an important opportunist pathogen in human immunodeficiency virus (HIV) infection. Cryptococcal meningitis (CM) 3rd after primary HIV neuropathy an Toxoplasma gondii among infectious neurological diseases in AIDS patients. Extrapulmonary infection due to C. neoformans has occurred in up to 13% of patients. 86% of the Cryptococcus spp isolates in the US, Canada, and Japan are serotype A. Thousands of infection due to var neoformans have been reported in AIDS patients but only 3 cases of var gattii. Cryptococcal pneumonia meningitis appears in 63-84% of AIDS patients with symptoms of fever, headache, meningism, and photophobia. 17-37% of AIDS patients with Cm die during therapy, and only 18-30% live over 12 months. Treatment in patients without immunodeficiency deficit is with a combination of .3 mg/kg/day of amphotericin B and 150 mg/kg/day of flucytosine for 4 weeks. A dose of .5-.8 mg/kg/day amphotericin was most effective although renal toxicity occurred in 80% of patients. Fluconazole has been used since 1987: cerebrospinal fluid concentrations reached 60-80% in serum. Treatment in 8 of 14 patients receiving 400 mg/day fluconazole failed while it did not in 6 patients treated with .7 mg/kg/day of amphotericin for 7 days and flucytosine 100 mg/kg/day. 200 mg/bid itraconazole was given to 32 patients with cryptococcosis (24 CM cases and 26 AIDS victims) and 65% of CM patients improved clinically with negative cultures. The relapse of 2 of 106 patients taking 200 mg/day fluconazole and 13 of 77 patients taking 1 mg/kg/week amphotericin B occurred in maintenance therapy. CM was suppressed in 10 of 15 patients with 400 mg/kg itrazonazole. Prophylactic use of azole drugs in AIDS does not protect completely from CM although it reduced systemic fungal infections such as cryptococcosis.
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PMID:Cryptococcal infection in AIDS. 161 62

Chediak-Higashi (C.H.S.) syndrome is a rare immunodeficiency, due to defective granulocyte activity. The syndrome is characterized by large inclusion bodies in the leukocytes, albinism, photophobia, nystagmus, and recurrent infections. Some patients develop hepatosplenomegaly, lymphadenopathy, pancytopenia and widespread organ infiltrates with mononucleated cells. This phase is called "accelerated (or lymphoma-like syndrome) phase". A 5 years old girl with C.H.S. in accelerated phase received initially medical treatment without improvement. A splenectomy was performed to remove the hypersplenism and the mechanical compression of the spleen on the gut. Few days after the splenectomy the fever and the pancytopenia disappeared. The pathological examination of the spleen showed multiple intraparenchymal abscesses. Unfortunately, six months after the operation, she died after an acute episode of pneumonia, with normal hematological pattern. The splenectomy may play a role in the "accelerated phase" of C.H.S., but new treatments (bone marrow transplantation) are necessary to remove the basic disease.
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PMID:[Role of splenectomy in Chediak-Higashi syndrome in its accelerated phase]. 383 24

Another family manifesting an X-linked, reticulate, pigmentary dermatosis, previously familial cutaneous amyloidosis, has been observed. The disorder is characterized in males in this family by onset in the first year of recurrent episodes of respiratory illness including pneumonia, a progressive reticulate pigmentation of the skin, hypohidrosis, and photophobia. The absence of amyloid deposits in the skin in both the mother and sons confirms that less emphasis should be given to the word "amyloidosis" in naming the disorder.
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PMID:An X-linked reticulate pigmentary disorder with systemic manifestations: report of a second family. 830 37

A normal component of the flora of the oropharynx, Neisseria sicca was first isolated in 1906 and has since been reported as a rare cause of various human infections including endocarditis, pneumonia, sinusitis, sepsis, and urethritis. We report the case of a 44-year-old African-American female with a history of hypertension who presented with complaints of right frontal headache, nausea, photophobia, and vomiting. A computed tomography scan of the patient's brain showed a large subarachnoid hemorrhage, and an arteriogram confirmed a large posterior communicating artery aneurysm. A ventriculostomy tube was placed, and the patient subsequently developed an elevated temperature and elevated white blood cell count. Cerebrospinal fluid studies showed elevated protein and glucose levels and cultures positive for N. sicca. This is only the seventh reported case of culture-proven meningitis related to N. sicca, and the first reported case associated with intracranial hemorrhage and ventriculostomy tube placement.
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PMID:Neisseria sicca meningitis following intracranial hemorrhage and ventriculostomy tube placement. 1790 82

This is a case of anterior uveitis in a 50 year-old man caused by lung adenocarcinoma metastasis to the iris. The patient was initially worked up for pneumonia and was discovered to have multiple lung lesions on computed tomography scan. Prior to discharge, the patient began complaining of ocular redness, pain, photophobia and decreased visual acuity. The patient was given an initial diagnosis of anterior uveitis with uveitic glaucoma, which was later confirmed to be secondary to lung adenocarcinoma metastasis to the iris. Metastasis to the iris is a particularly rare cause of anterior uveitis and may inadvertently be left out of a physician's differential diagnosis. This case illustrates a rare, but clinically important cause of anterior uveitis with intraocular hypertension, which should be considered in all cases of ocular redness and pain.
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PMID:A case study of unusual etiology of anterior uveitis with ocular hypertension-iris metastasis of primary lung adenocarcinoma. 2466 Jan 26