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131.
132.
H4 acetylation, XIST RNA and replication timing are coincident and define x;autosome boundaries in two abnormal X chromosomes 总被引:2,自引:1,他引:2
The inactive X (Xi) differs from its active homologue (Xa) in a number of
ways, including increased methylation of CpG islands, replication late in S
phase, underacetylation of histone H4 and association with XIST RNA. Global
changes in DNA methylation occur relatively late in development, but the
other properties all change during or shortly after the establishment of Xi
and may play a role in the mechanism by which an inactive chromatin
conformation spreads across most of the chromosome. In the present report,
we use two human X;autosome translocation chromosomes to study the
spreading of inactive X chromatin across X;autosome boundaries. In one of
these chromosomes, t(X;6), Xp distal to p11.2 is replaced by 6p21.1-6pter
and, in the other, ins(X;16), a small fragment derived from 16p13 is
inserted into the distal third of Xq. In lymphoid cells from patients
carrying these translocations in an unbalanced form, Xi was shown by HUMARA
assay to be derived exclusively [t(X:6)] or predominantly [ins (X;16)] from
the derived X chromosome. We used a combination of immunolabelling and
RNA/DNA fluorescence in situ hybridization to define the distribution of
XIST RNA, deacetylated H4 and late-replicating DNA across the two derived X
chromosomes in inactive form. Within the limits of the cytogenetic
techniques employed, the results show complete coincidence of these three
parameters, with all three being excluded from the autosomal component of
the derived X chromosome.
相似文献
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M Altieri R Di Giambattista L Di Clemente D Fagiolo E Tarolla A Mercurio E Vicenzini L Tarsitani GL Lenzi M Biondi & V Di Piero 《Cephalalgia : an international journal of headache》2009,29(3):293-299
We studied the effects of short-term psychodynamic psychotherapy (STPP) and pharmacological therapy in 26 consecutive patients with probable medication overuse headache (pMOH). Patients underwent a standard in-patient detoxification protocol, lasting a mean of 7 days. Eleven patients overused non-steroidal anti-inflammatory drugs (NSAIDs), five a combination of NSAIDs and triptans, four triptans, four a combination of NSAIDs, and three triptans and ergot derivates. Preventive therapy was initiated during detoxification. The STPP protocol comprised the Brief Psychodynamic Investigation (BPI) and psychoanalysis-inspired psychotherapy. All patients (groups A and B) underwent the BPI and pharmacological therapy. Half of the patients (group B) also not randomly underwent psychoanalysis-inspired psychotherapy. We found a significant interaction between time and group for headache frequency and medication intake. At 12-month follow-up, a statistically greater decrease in headache frequency and medication intake was observed in group B than in group A ( P = 0.0108 and P = 0.0097, respectively). The relapse rate was much lower in group B patients at both 6 and 12 months [15.3%, odds ratio (OR) 0.11, P = 0.016, and 23%, OR 0.18, P = 0.047, respectively] than in group A. The risk of developing chronic migraine (CM) during follow-up was higher in group A than in group B at 6 (OR 2.0, P = 0.047) and 12 months (OR 2.75, P = 0.005). Our study suggests that STPP in conjunction with drug withdrawal and prophylactic pharmacotherapy relieves headache symptoms in pMOH, reducing both long-term relapses and the burden of CM. 相似文献
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KA Bergman JF Meis AM Horrevorts L Monnens 《Acta paediatrica (Oslo, Norway : 1992)》1992,81(9):709-711
Systemic candidiasis with renal involvement is a rare but well-recognized complication during intensive care treatment in very-low-birth-weight infants. We report a term neonate who developed anuria associated with bilateral bezoar formation in the renal pelvis and candidemia. The treatment consisted of placement of a nephrostomy tube in the left kidney, short-term irrigation with amphotericin B and iv, and later, oral administration of fluconazole. 相似文献
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AM Boot J Nauta AC Hokken-Koelega HA Pols MA de Ridder SM de Muinck Keizer-Schrama 《Archives of disease in childhood》1995,72(6):502-506
A cross sectional study assessed the bone mineral density (BMD) of 20 young adult patients who received a renal transplantation in childhood. The BMD of the lumbar spine, mainly trabecular bone, and of the total body, mainly cortical bone, were measured and expressed as an SD score. Fourteen patients (70%) had a BMD SD score of the lumbar spine below -1, of whom six patients were below -2. Fifteen patients (75%) had a BMD SD score of the total body below -1, of whom seven patients were below -2, Both trabecular and cortical bone appeared to be involved in the osteopenic process. The cumulative dose of prednisone was inversely correlated to both lumbar spine and total body BMD SD score. In a multiple regression analysis the cumulative dose of prednisone appeared to be the only factor with a significant effect on BMD SD score. Most young adult patients who had received a renal transplantation in childhood had moderate to severe osteopenia. Corticosteroid treatment played a major part in the development of osteopenia in these patients. 相似文献