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21.
P. F. J. Koppens T. Hoogenboezem D. J. J. Halley C. A. M. Barendse A. J. Oostenbrink H. J. Degenhart 《European journal of pediatrics》1992,151(12):885-892
Two steroid 21-hydroxylase genes are normally present within the human major histocompatibility complex near the genes encoding the fourth component of complement (C4A and C4B). Steroid 21-hydroxylase is encoded by the CYP21 gene, while the highly homologous CYP21P gene is a pseudogene. We studied steroid 21-hydroxylase and complement C4 haplotypes in 33 Dutch patients (29 families) suffering form classical congenital adrenal hyperplasia (CAH) and in their 80 family members, and also in 55 unrelated healthy controls, using 21-hydroxylase and complement C4 cDNA probes. Eleven different haplotypes, defined in terms of gene deletions, gene duplications, conversions of CYP21 to CYP21P, and long and short C4 genes, were found. In 23% of the patients' haplotypes, the CYP21 gene was deleted; in 12%, it was converted into a CYP21P pseudogene. In the remaining 65%, the defect was apparently caused by a mutation not detectable by this method. The most common haplotype (with one CYP21 and one CYP21P gene) was significantly more often observed in patients with simple virilizing CAH than in those with salt-losing CAH. Comparison of the 21-hydroxylase haplotypes found in CAH patients from several countries shows evidence for considerable genetic variation between the groups studied. 相似文献
22.
B. P. Hauffa J. Sólyom E. Gláz C. H. L. Shackleton G. Wambach P. Vecsei H. Stolecke J. Homoki 《European journal of pediatrics》1991,150(3):149-153
Infection-triggered, life-threatening salt-loss and hyperkalaemia developed in two male infants with wasting, inappropriately low plasma aldosterone concentrations and elevated plasma renin activity. The presumptive diagnosis of a defective terminal step in aldosterone biosynthesis was made by the presence of large amounts of 11-dehydrotetrahydrocorticosterone and its 18-hydroxylated metabolite (18-OH-THA), free 18-hydroxycorticosterone (18-OH-B) and 18-hydroxytetra-hydrocorticosterone in the urine of both patients. The diagnosis of corticosterone methyl oxidase type II (CMO II) deficiency was confirmed by an elevated urinary 18-OH-THA to tetrahydroaldosterone ratio in one boy and by an elevated plasma 18-OH-B to aldosterone ratio in the other boy. Unknown steroids responsible for the salt-loss were not identified. Sodium supplementation but not short-term high dose oral 9-fluorcortisol (FF) normalized the hyponatraemia in one patient, in whom sodium (Na+)/potassium (K+) co-transport was decreased. Both patients eventually received long-term FF treatment to prevent impairment of longitudinal growth caused by chronic salt-loss. The diagnosis of CMO II deficiency should always be confirmed by elevated precursor-product ratios in urine or plasma, using radioimmunoassays with prior chromatographic separation. Metabolic studies as the short-term response of serum Na+ to high dose FF may not be helpful in differentiating aldosterone biosynthetic defects from endorgan resistance to mineralocorticoids.Dedicated to Professor Dr. Walter Teller, on the occasion of his 60th birthdayPresented in part at the 27th Annual Meeting of the European Society for Paediatric Endocrinology, Copenhagen, Denmark, June 1988 相似文献
23.
绝育术后盆腔痛患者血浆、腹腔液中甾体激素与前列腺素相关性研究 总被引:5,自引:1,他引:4
本文测定绝育术后盆腔痛患者44例、输卵管绝育术后行输卵管复通术11例和正常妇女15例血浆与腹腔液中的甾体激素及前列腺素水平。结果发现:血中E_2与PGF_(2α)呈明显正相关,与TXB_2呈负相关,而P则与PGF_(2α)呈明显负相关;腹腔液中E_2与PGF_(2α)、TXB_2呈负相关。盆腔痛患者,包括异位症、无明显病变盆腔痛和盆腔静脉瘀血症3组的某种PG水平高于其他组。结果表明:血与腹腔液中PGs受甾体激素的影响,绝育术后慢性盆腔痛与PGs有关。 相似文献
24.
B. Acar T. Uslu A. Topuz E. Osma T. Ercal C. Posaci Y. Erata A. Mumcu 《Archives of gynecology and obstetrics》1998,261(3):121-128
We studied factors related to bone mass after a natural or surgical menopause in 73 healthy women attending the menopause
clinic of a university hospital. In the natural menopause group we found inverse correlations between bone mineral density
(BMD) vs. menopausal duration; BMD vs. body mass index (BMI) and BMI vs. inorganic phosphate (Pi), borderline correlations
between weight vs. thyroxin (T4) and weight vs. luteinising hormone (LH) and a positive correlation between androstenedione
(D4A) vs. urinary calcium (Uca). In the surgical menopause group we found some negative correlations (BMD vs. menopausal duration,
BMI vs. Pi; BMI vs. dehydroepiandrosterone sulphate (DS), weight vs. DS and cortisol vs. Uca) and some positive correlations
(BMD vs. free testosterone (fT), BMD vs. calcium (Ca), and BMD vs. Uca). We concluded that the serum hormone levels we measured
were not useful markers of current bone mineral status.
Received: 3 January 1997 / Accepted: 3 January 1997 相似文献
25.
After we incidentally found on CT extensive esophageal fat accumulations in a patient with long-term use of steroids, we
prospectively evaluated during a 6-month period all CT studies of the chest for esophageal lipomatosis and related the findings
to the possible use of steroids. The diagnosis of esophageal fat on CT was made by density measurements or if too small for
reliable density measurements by comparison with mediastinal fat. In 21 of 1320 exclusively older male patients the diagnosis
of esophageal lipomatosis was definite in 7 and likely in 14 patients. All fat accumulations were located in the upper third
of the esophagus (mean length 22 ± 6 mm) and presented ring-like (n = 10), irregular (n = 3), or as a horseshoe sparing the posterior border (n = 8). In 20 patients there was an unequivocal history of steroid treatment. Associated centripetal fat infiltration was found
in 11 patients. None of the patients had swallowing problems. Prolonged use of steroids, either orally or inhalationally administered,
is associated with esophageal lipomatosis. The predisposition for the upper esophagus might be related to the presence of
striated muscle cells in this part of the esophagus; moreover, inhalational steroid therapy may adversely affect the upper
esophagus.
Received: 3 April 2000; Accepted: 2 May 2000 相似文献
26.
27.
Yasuhiro Takahashi Emiko Takahashi Yuji Hiromatsu 《Modern rheumatology / the Japan Rheumatism Association》2018,28(5):893-896
We report two cases with immunoglobulin G4 (IgG4)-positive staining of orbital lesions and thyroid eye disease (TED). Case 1 was a 63-year-old male with right upper eyelid swelling due to right lacrimal gland enlargement. Case 2 was a 49-year-old male with bilateral proptosis due to multiple orbital masses. Both the biopsied right lacrimal gland in Case 1 and the orbital masses on both sides in Case 2 showed infiltration of immunoglobulin-G4-positive plasma cells. 相似文献
28.
29.
Sun Jung Rhee Sang Hyun Paik Hwa Kyoon Shin Jai Soung Park Eun Hye Lee 《Korean journal of radiology》2012,13(3):342-344
We report on a 41-year-old woman with a chest wall desmoid tumour who was successfully treated with a computed tomography (CT)-guided steroid injection. She presented with a palpable mass in the right upper chest wall and was treated by surgical excision and postoperative radiation therapy due to recurrence of the mass at the surgical site. At 20 months after the second operation, a recurrent mass was again detected in the anterosuperior portion of the previous surgical site on CT. We performed a CT-guided steroid injection weekly for 4 weeks by applying a mixture of 3 mL of triamcinolone acetonide (40 mg/mL) and 3 mL of 1% Lidocaine, administering 4-6 mL of the mixture, to the lesion. Six months later, CT showed a marked decrease in the size of the mass. 相似文献
30.
Julian R. Northover David Williamson Jemma Rooker Kathryn Kneale 《Foot and Ankle Surgery》2013,19(4):289-292
We report a case of spontaneous peri-talar dislocation after intra-articular steroid injections. We have reviewed the literature on spontaneous peri- and sub-talar dislocations and the effects of intra-articular steroid injections. 相似文献