ABSTRACT
Uronic acid (UA) content in whole urine showed a characteristic pattern of fluctuations during menstrual cycle (24 cycles) with a distinct peak on the day of ovulation (midcycle peak 1043 + 68 micrograms/ml urine. This peak of maximal UA concentration was validated by ultrasonography (abdominal and/or vaginal scanner and basal body temperature. In hormonal induced menstrual cycle (5 cycles) a significant decrease in Ua concentrations were observed during the follicular phase (20%) and in the midcycle peak (11%) when they were compared with the same values in the normal cycle. Nevertheless, two days after the ovulation peak occurs a second peak can be observed (1344 + 799 micrograms UA/ml urine). On the other hand in the anovulatory cycles (5 cycles) the same diminishing behavior in the UA concentrations were observed in both phases of the cycle (50-60%) with the expected lack of the midcycle peak. Results that clearly show that UA excretion in urine reflect a excellent correlation with the menstrual cycle allowing us to propose this technique as an accurate and reliable method to detect ovulation.
Subject(s)
Ovulation Detection/methods , Uronic Acids/urine , Adult , Body Temperature , Female , Humans , Menstrual Cycle , Ovary/diagnostic imaging , Ovulation Induction , Time Factors , UltrasonographyABSTRACT
We describe two boys, presenting by 1 year of age, with developmental delay from birth, mildly coarse facial features, and hepatomegaly. These clinical features were most suggestive of a mucopolysaccharidosis, particularly MPS II. Biochemical studies, including sulfate incorporation in fibroblasts and lysosomal enzyme analyses in fibroblasts, leukocytes, and serum, showed abnormalities in both sulfatide and mucopolysaccharide metabolism and led to the diagnosis of multiple sulfatase deficiency. With time, both patients developed an ichthyotic rash and profound intellectual deterioration. We conclude that findings in the first year of life in some patients with MSD may closely resemble those in patients with a MPS disorder rather than the late infantile form of metachromatic leukodystrophy, as is classically described. Thus, MSD should be considered in the young patient suspected of having a MPS disorder.
Subject(s)
Sulfatases/deficiency , Cerebroside-Sulfatase/deficiency , Child, Preschool , Chondro-4-Sulfatase/deficiency , Diagnosis, Differential , Fibroblasts/enzymology , Glycosaminoglycans/metabolism , Hexosaminidases/metabolism , Humans , Infant , Leukocytes/enzymology , Leukodystrophy, Metachromatic/diagnosis , Male , Mucopolysaccharidoses/diagnosis , Skin , Sulfoglycosphingolipids/urine , Uronic Acids/urineABSTRACT
The urinary excretion of uronic acid and the hydroxyproline of a urinary fraction of high molecular weight collagen peptides (% of total Hyp) indicate disease activity in generalized scleroderma. A significant decrease in the content of Hyp and Hyl in the skin of sclerodermal patients is not related to activity, but rather to the duration of the disease. Parallel analyses of skin and urine of the same patients are reported.