نتایج جستجو برای: alkaptonuria
تعداد نتایج: 375 فیلتر نتایج به سال:
Alkaptonuria is a rare metabolic disorder characterized by the accumulation of homogentisic acid. Its effects on central nervous system are well-recognized; however, cases pathologic acid deposition in peripheral less well-described. We report case 72-year-old man with prior history alkaptonuria presenting bilateral carpal tunnel and left-sided cubital symptoms. This note because patient demons...
Alkaptonuria (AKU) is a very rare autosomal recessive disorder of tyrosine metabolism in the liver due to deficiency of homogentisate 1,2 dioxygenase (HGD) activity, resulting in the accumulation of homogentisic acid (HGA). Circulating HGA pass into various tissues through-out the body, mainly in cartilage and connective tissues, where its oxidation products polymerize and deposit as a melanin-...
The manuscript deals with our studies and experiences in the assessment of cytoskeleton different cellular models situations. immunofluorescent study several cytoskeletal proteins was relevant evaluation a therapy for osteoarthritis, case alkaptonuria testing efficacy docetaxel neuroblastoma cancer cells leading to apoptosis. A part experience focus on seminiferous epithelium spermatozoa, ident...
The post-mortem examination of an unsuspected case of alkaptonuria revealed extensive ochronosis. Histological examination of undecalcified sections of tracheal, costal, femoral and patellar cartilage revealed, in addition to ochronotic pigment, extensive calcium pyrophosphate dihydrate (CPPD) deposition. Similar deposits were present in intervertebral discs and were related to ossification of ...
The mother of a four month old female baby attended in the well baby clinic with the complaint of black staining of the diaper after few minutes of urination. The baby was born of a non consanguineous marriage, healthy and breast fed. Mother noticed that stain first at the age of two and half month. The urine when kept in a test tube for two hours turned black. Laboratory examination of urine r...
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