Browsing by Author "Cattani, A"

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    Bone metabolism in children with epidermolysis bullosa
    (MOSBY-ELSEVIER, 2002) Reyes, ML; Cattani, A; Gajardo, H; Garcia, C; McGrath, JA; Palisson, F
    We evaluated bone mineral density, vitamin D status, and biochemical markers of bone turnover in seven children with epidermolysis bullosa (EB). Four had osteopenia (Z score, -1.5) and four 25(OH) vitamin D <34 nmol/L (14 ng/mL), two of which had hyperparathyroidism. Children with severe EB should have evaluation of bone metabolism.
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    Bone turnover in lactating teenagers: Assessment at the end of pregnancy, during and after the breast feeding period
    (2000) Cattani, A; Zubarew, T; Maddaleno, M; Mosso, L; Lopez, JM; NCD Risk Factor Collaboration (NCD-RisC)
    Background: There is paucity of information about bone metabolism during pregnancy or breast feeding in teenagers. Aim: To study bone turnover at the end of pregnancy and during breast feeding in teenagers and correlate it with environmental, hormonal or nutritional variables. Subjects and methods: Thirty teenagers during their breast feeding period after a first pregnancy and 30 nulliparous girls matched for age, age of menarche and body mass index were assessed three weeks after delivery (period 1), at six months of breast feeding (period 2) and one year after the lactating period (period 3). Calcium intake and plasma calcium, phosphorus, alkaline phosphatases, parathormone, estradiol and prolactin were measured. Calcium, creatinine and hydroxypyroline were also measured in a morning urine samples. Results: Lactating and control girls were aged 16.3+/-0.8 and 16.1+/-0.7 years old respectively. Calcium intake in lactating and control girls was 798+/-421 and 640+/-346 g/day respectively in period 1, 612+/-352 and 592+/-309 mg/day in period 2 and 495+/-180 and 456+/-157 g/day in period 3. During periods 1 and 2, lactating girls had higher alkaline phosphatases (161+/-37 compared to 119+/-28 U/l and 149+/-37 compared to 106+/-23 U/l), parathormone (4.3+/-2.6 compared to 2/8+/-0.8 ng/dl and 3.6+/-1.6 compared to 3.0+/-0.9 ng/dl) and urinary hydroxyproline (95+/-16 compared to 63+/-15 mg/g creatinine and 84+/-19 compared to 59+/-15 mg/g creatinine). No differences were observed in period 3. No correlation between bone turnover variables, body mass index or hormonal parameters, was observed. Conclusions: In teenagers, there is an increase in bone turnover at the end of pregnancy, that persists during the lactating period. These changes are not relaxed to nutritional or hormonal variables.
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    Salt-wasting congenital adrenal hyperplasia: Detection of mutations in CYP21B gene in a Chilean population
    (ENDOCRINE SOC, 1998) Fardella, CE; Poggi, H; Pineda, P; Soto, J; Torrealba, I; Cattani, A; Oestreicher, E; Foradori, A
    The steroid 21-hydroxylase deficiency (21OHD) is the most frequent cause of congenital adrenal hyperplasia. We have characterized the disease-causing mutations in the 21-hydroxylase genes of 63 patients with salt-wasting congenital adrenal hyperplasia from a Chilean population of Hispanic origin, a group that has been scarcely evaluated. Using allele-specific PCR, lesions were identified in 97 chromosomes out of 126 tested (77%). The most frequent findings were the gene deletion or large gene conversion (LGC) = 22.9%, I2 splice = 19%, R357W = 12.7%, and Q319X = 10.5%. We did not find alleles with the mutation F308insT and we found three alleles with the cluster E6. The frequency of the point mutation R357W was at least two times more frequent than the one found in Caucasians populations, but similar to that communicated in Asian populations; this finding may be explained by the Asian ancestry of our South-Amerindian population. The frequency of Q319X was also high, similar only to those patients studied in Italy and in a neighboring Argentinian population. In summary, this is a genetic characterization of 21OHD made in an almost pure Hispanic population in Latin America. The high frequency of deletion of CYP21B gene, I2 splice, R357W, and Q319X mutations probably reflects the European-Caucasian-Spanish influence of the conquerors, mixed with Amerindians of Asian ancestry and modulated by other European immigrations.
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    Y chromosome sequences in Turner's syndrome: Association with virilization and gonadoblastoma
    (FREUND PUBLISHING HOUSE LTD, 2003) Mancilla, EE; Poggi, H; Repetto, G; Rumie, H; Garcia, H; Ugarte, F; Hidalgo, S; Jara, A; Muzzo, S; Panteon, E; Torrealba, I; Foradori, A; Cattani, A
    The presence of Y chromosome fragments in patients with Turner's syndrome is known to increase the risk of gonadoblastoma and virilization. Y chromosome material is detected in up to 6% of patients with Turner's syndrome by karyotype. By DNA analysis, Y chromosome sequences have been reported in 0-60% of patients. The putative gonadoblastoma gene has been mapped to the pericentromeric region of the Y chromosome increasing the interest in studying these sequences.