Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe a spot test for detecting deficiency of uroporphyrinogen I synthase (EC 4.3.1.8), which is characteristic of intermittent acute porphyria. The specimens used for enzyme assay are 6.5-mm filter paper discs saturated with dried blood (less than 15 mul) that was collected by direct application from a fingerstick or from venipuncture, with or without anticoagulant. The enzyme in such specimens is stable for at least nine days at -20 or c degrees C or for two days at room temperature. The discs are incubated with porphobilinogen (0.11 mmol/liter) in tris(hydroxymethyl)aminomethane HCl buffer, pH 8.2, in the dark at 37 degrees C for 3.5 h. Trichloroacetic acid is added and, after centrifugation, the supernate is examined visually with a long-wavelength ultraviolet lamp. Samples from normal and porphyric subjects are readily differentiated, both by color and intensity of the resulting porphyrin fluorescence. Anemia is a potential source of falsely positive tests, but one may accurately determine the concentration of hemoglobin in the whole blood on the filter paper discs. Moreover, the fluorescence of normal but anemic samples clearly differs qualitatively from that of porphyric specimens. Another source of falsely positive tests, variation in enzyme activity creating an overlap zone of normal and porphyric results, has not been a confounding problem. The method thus seems to offer promise for screening populations for this disorder.
 ...
PMID:A spot test for uroporphyrinogen I synthase, the enzyme that is deficient in intermittent acute porphyria. 100 Jul 96

Acute non-suppurative tubulointerstitial nephritis was recorded within a five-month interval in 1988 in one girl and two boys aged 15, 16 and 12 years. The common feature was non-selective proteinuria, slight glycosuria, anaemia, a sedimentation rate of more than 100 mm/2 hrs hyperatotaemia not calling for dialyzation treatment (268, 354 and 266 mumol/l plasma creatinine resp.), a markedly impaired concentrating capacity (540, 593 and 520 mOsm/kg urine resp.). In all patients circulating serum immunocomplexes were elevated (PEG-IKEM). One patient developed acute uveitis at the onset of the disease, the remainder after 5 and 6 months resp. and in all there was a tendency of a protracted course and relapses resp. In two patients uveitis was diagnosed by an aimed examination by means of a slit lamp at a time when there were not yet any clear signs of affection of the eyes. All patients were subjected to percutaneous renal biopsy which revealed an interstitium with uneven lymphoplasmacytic cellulization with infrequent eosinophil and neutrophil polynuclear cells. Electron microscopy revealed sections of varying size with fibrotization of the tubular basal membrane; the glomerular changes were not typical. All patients had prednisone treatment and their renal functions were gradually restored. Despite extensive serological examinations, the aetiology was not cleared, however before the onset of the disease the patients had penicillin, cotrimoxazol and erythromycin resp.
 ...
PMID:[Acute interstitial nephritis with uveitis in children and adolescents]. 239 34

Congenital erythropoietic porphyria is a rare form of porphyria, presenting during the neonatal period or during infancy. Clinical features include photosensitive blistering and severe anemia. Wood's lamp fluorescence of the diaper is a useful screening test. We describe a severely affected neonate with systemic involvement due to a homozygous mutation. Because of ongoing severe hemolytic anemia and severe photosensitivity, bone-marrow transplantation was performed, but the patient ultimately succumbed to chemotherapy-induced lung damage, as well as severe pulmonary hypertension, likely due to his chronic hemolytic anemia.
 ...
PMID:Severe neonatal congenital erythropoietic porphyria. 2136 30

The purpose of this study is to report a case of methicillin-resistant Staphylococcus aureus (MRSA) keratitis in a dog. A 7-year-old intact male American cocker spaniel that had undergone removal of a nictitating gland was referred for severe ulcerative keratitis. Slit-lamp examination showed swelling of the eyelid, mucopurulent discharge, conjunctival injection and chemosis, diffuse corneal edema and opacity, and a deep ulcer in central cornea. Gram staining of discharge from the eye demonstrated Gram-positive cocci. Despite topical ofloxacin, oxytetracycline and polymyxin B ophthalmic solution and intravenous cefazolin, there was no improvement. Cultures revealed MRSA that was sensitive only to chloramphenicol, vancomycin, lincomycin, and clindamycin. The antibiotic regimen was changed to topical and systemic chloramphenicol. After 9 days of treatment, although inflammation started to be resolved, the dog developed nonregenerative anemia. The antimicrobial regimen was changed again to topical and systemic vancomycin. Inflammation continued to improve over the next week. MRSA should be considered a potential organism in infectious keratitis, especially when general antibiotics are not effective. Although topical and systemic chloramphenicol and/or vancomycin are effective for treating MRSA keratitis, vancomycin should only be used when culture and susceptibility results indicate it is appropriate and no other options are available. To our knowledge, this is the first detailed case report of MRSA keratitis in a dog.
 ...
PMID:Methicillin-resistant Staphylococcus aureus keratitis in a dog. 2312 59

A 55-year-old man presented with multiple gradually progressing asymptomatic swellings on his body for the preceding 6 months. He had no personal or family history of any skin disease. There was no systemic symptom apart from occasional constipation. Examination revealed multiple discrete, firm, nontender, skin-colored nodules of varying sizes, fixed to the skin but free from the underlying structures on his chest, abdomen, and back. The overlying skin of the nodules was erythematous at places (Figure 1). A solitary depigmented, nonanesthetic patch (measuring 3 cm x 3 cm) was noted around a central gray macule (4 mm x 4 mm) on his left shin (Figure 2). The surface of this lesion was otherwise normal. Wood's lamp examination of this area showed attenuation of pigmentation in the central area and total depigmentation surrounding it. No dyspigmented area was noted on Wood's lamp examination of the other areas. There was no abnormality of the orogenital mucosae. General examination revealed mild pallor and multiple discrete, nontender, firm lymph nodes, measuring 3 cm x 3 cm, attached to the skin in the left inguinal region. The overlying skin was normal. Ocular examination (including direct and indirect ophthalmoscopy) and otolaryngologic evaluation were normal. Proctoscopic examination revealed a reddish-black indurated mass at the right lateral wall of the lower third of the rectum. Examination of the other system was noncontributory. Complete hemogram showed mild anemia (hemoglobin % = 10 gm%) and raised ESR, (80 mm in the first hour; Westergren's method). Biochemistry panel was normal apart from raised levels of aspertate transaminase (78 U/L), alanine transaminase (68 U/L), alkaline phosphatase (386 U/L), and lactate dehydrogenase (692 U/L). Chest x-ray showed a rounded opacity in the left apical area suggestive of cannon-ball metastasis (Figure 3). Ultrasonography and computed tomography of the abdomen revealed multiple liver nodules suggestive of hepatic metastasis. Findings from omputed tomography of the brain and upper gastrointestinal endoscopy were normal. Colonoscopic examination did not reveal any colonic lesion. Fine needle aspiration cytology of the enlarged inguinal lymph node was suggestive of malignant melanoma (MM). Histopathologic examination of the excision biopsy specimen of a skin nodule showed a tumor mass in the dermis composed of nests of oval to polygonal cells with vesicular nuclei and large prominent nucleoli (Figure 4). Extensive areas of necrosis were also seen. The tumor cells contained brownish pigment that stained positively with Masson Fontana stain. Pearl's stain was negative. Excision biopsy of the depigmented patch on the left shin showed mild hyperkeratosis, proliferation of capillary-sized blood vessels in the dermis, and thick-walled blood vessels in the subcutaneous tissue (Figure 5). No cellular atypia or any other evidence of malignancy was noted in this specimen. Biopsy from the rectal growth was suggestive of MM. Tumor cells were positive for S100 and human melanin black 45. Based on the clinical presentation, histopathology, and laboratory investigations, a diagnosis of metastatic MM (stage IV: T(x)N(3)M(1c)) with unknown primary site was made. Treatment was started with injection dacarbazine 250 mg/m2 intravenous infusion daily for 5 days intended to be given every 3 weeks for palliation. The patient died 2 week after the first treatment with chemotherapy.
 ...
PMID:Metastatic melanoma from an unknown primary site presenting as skin-colored nodules and multiple visceral involvement. 2334 71

The Scottish physiologist John Scott Haldane (1860-1936) spent most of his professional career in Oxford after graduating from the medical school in Edinburgh. He was deeply involved in applying basic science on problems in society but also making these problems guide his choice of projects in his experimental work. Thus, he has demonstrated that the increased contents of carbon dioxide in dwellings, schools, and factories was of less importance than the high contents of bacteria and fungal spores, and that even the foul air in the sewers was less harmful than that in crowded dwellings. He demonstrated that most miners did not die of lack of oxygen or trauma after colliery accidents but of carbon monoxide poisoning. The miners had relied on the ability of their candle or lamp to burn, but this would not be influenced by the presence of carbon monoxide. Thus, he introduced the canaries, which due to their small size and correspondingly relatively higher metabolism would faint about 20 minutes prior to humans. Haldane was called to investigate the ventilation and quality of the air in Cornish tin mines, since the miners suffered from fatigue or even fainted. The air and ventilation was sufficient, but the miners suffered from anaemia due to ankylostomiasis. After improving the hygienic conditions in the mines this became a minor problem although not completely eradicated. During World War I, Haldane became involved in protection of the allied soldiers when the German troops started using poison gas. In all cases he made rather drastic experiments on himself, his coworkers and even his son by exposing them to low oxygen, high carbon dioxide, carbon monoxide, or chlorine. He improved the gasmasks and introduced oxygen as a therapeutic agent. His big scientific mistake was that he insisted on the presence of an active oxygen secretion in the alveoli in order to explain the increased oxygen uptake during work and as part of acclimatisation to high altitude. workers and even his son by exposing them to low oxygen, high carbon dioxide, carbon monoxide, or chlorine. He improved the gasmasks and introduced oxygen as a therapeutic agents. His big scientific mistake was that he insisted on the presence of an active oxygen secretion in the alveoli in order to explain the increased oxygen uptake during work and as part of acclimatisation to high altitude.
 ...
PMID:[Canaries, germs, and poison gas. The physiologist J.S. Haldane's contributions to public health and hygiene]. 2708 47