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1.
Familial achalasia associated with adrenocortical insufficiency, alacrima, and neurological abnormalities 总被引:1,自引:0,他引:1
We report on two brothers with achalasia, adrenocortical insufficiency, alacrima, short stature, microcephaly, ataxia, optic atrophy, and developmental delay. The parents and three sibs are unaffected. Achalasia, adrenocortical insufficiency, and alacrima comprise a recently characterized familial multisystem disorder of unknown cause. Achalasia has also been described in association with microcephaly and mental retardation in one family and ataxia, optic atrophy, and mental retardation in another. The above reports and these sibs may represent variants of a single pleiotropic recessive gene. We suggest that abnormalities of the central nervous system are a manifestation of the achalasia, adrenocortical insufficiency, alacrima syndrome. 相似文献
2.
G Tufveson W Geelings M Broyer F P Brunner H Brynger S R Dykes J H Ehrich W Fassbinder G Rizzoni N H Selwood 《Nephrology, dialysis, transplantation》1989,4(3):161-171
This paper summarises the information given on the 1986 EDTA Registry centre questionnaire which was returned by 82% of the 2,065 known dialysis and transplant centres in 33 European countries. Information is given on the number of patients alive on haemodialysis according to the type of dialysis facilities available where the patient was receiving dialysis and the number of patients receiving special types of dialysis. The centre questionnaire also included questions on testing for HIV infection, serological evidence or symptoms of AIDS and the diagnosis of hepatitis B in patients and staff. The data given in response to these questions are presented together with data on the involvement of dietitians and social workers in the treatment of patients with end stage renal failure. Finally, information on transplant activity in Europe and the treatment policies of transplanting centres is provided. 相似文献
3.
An association of renal and cardiac manifestations can be observed in a variety of diseases. The pathogenetic factors may include, firstly, a disturbance of organ development due to chromosomal aberration or an underlying syndrome or, secondly, infectious, immunologic and metabolic factors. In addition, primarily isolated diseases of the heart or the kidney may lead to damage of the previously unaffected organ. The present article gives a review on renal diseases associated with heart diseases in children and adults. 相似文献
4.
A single injection of mipafox was administered to both Long-Evans hooded rats and White Leghorn hens in dosages which inhibited the activity of brain neurotoxic esterase 30-50%, 60-80%, or greater than 80% four hr after intoxication. All animals were monitored for clinical evidence of organophosphorus induced delayed neuropathy for 21 days, euthanatized, and regions of the nervous system were histologically evaluated. Only hens manifested clinical signs of neuropathy; however, light and electron microscopic lesions were present in the nervous systems of both species. In rats, these lesions were well developed in only the highest dosage group and confined to the rostral level of the fasciculus gracilis in the medulla oblongata. Swollen axons containing a single vacuole filled with flocculent material were the most prominent lesion in rats. Hens manifested more extensive and varied fiber breakdown in multiple spinal cord tracts, with the intensity of degeneration increasing with increasing dosages of mipafox. Both marked Wallerian-like degeneration and swollen axons filled with aggregates of cellular debris were observed in the nervous systems of hens. This study indicates that both rats and hens are susceptible to OPIDN. However, there are qualitative and quantitative differences in both clinical manifestations and histologic appearances between the two species. 相似文献
5.
6.
Pape Lars; Mengel Michael; Offner Gisela; Ehrich Jochen H.H. 《Nephrology, dialysis, transplantation》2004,19(12):3207
Sir, A 4-year-old boy presented with oedema and weight gain of 5kg. There had been no preceding infections, vaccinations ormedication. The family history includes the mothers mesangioproliferativeglomerulonephritis. Laboratory results showed decreased albumin (13 g/l) concentration.Calculated glomerular filtration rate was 125 ml/min/1.73 m2and the 相似文献
7.
Intestinal schistosomiasis japonica: CT-pathologic correlation 总被引:1,自引:0,他引:1
Lee RC; Chiang JH; Chou YH; Rubesin SE; Wu HP; Jeng WC; Hsu CC; Tiu CM; Chang T 《Radiology》1994,193(2):539
8.
Pharmacokinetics of tacrolimus (FK 506) in children and adolescents with renal transplants 总被引:3,自引:0,他引:3
Filler G; Grygas R; Mai I; Stolpe H; Greiner C; Bauer S; Ehrich J 《Nephrology, dialysis, transplantation》1997,12(8):1668-1671
Background: Only few data exist on pharmacokinetics of
tacrolimus in children. Patients: In 1995 and 1996, 14
children (mean age 13 years, range 5-23 years) received tacrolimus after
renal transplantation; 10 of these after biopsy-proven steroid-resistant
rejection (2 with vascular rejection), two for cyclosporin A (CsA)-induced
severe nephrotoxicity, one for untreatable gingival hyperplasia on CsA, and
one child was treated primarily after transplantation because of severe
liver involvement in nephronophthisis. Pharmacokinetic investigations were
performed after establishing a stable maintenance dose with trough levels
in the desired window of 5-12 ng/ml. Results: Mean
follow-up time was 6 months (range 3-25 months). Eleven patients were still
on tacrolimus. Two were discontinued because of severe aggravation of
chronic persistent hepatitis C (one of them also developed diabetes
mellitus),and one patient was subsequently switched to conventional
immunosuppression because of tacrolimus-associated nephrotoxicity. All
tacrolimus levels were measured by a modified assay (MEIA, Tacrolimus,
Abbott) with improved sensitivity. At the time of switch, median serum
creatinine was 234±82 7mgr;mol;l and 6 months after switch
201±99 &mgr;mol/l. All grafts are still functioning. Mean
FK-506 dose was 0.16 mg/kg body weight/day (range 0.036-0.30 mg/kg). Mean
trough level was 7.1±2.6 ng/ml in the morning and
6.5±2.0 ng/ml in the evening. Median time of maximum
concentration (tmax) was 120 min after application, and the mean maximum
concentration (Cmax) was 15.2±6.7 ng/ml. Mean area under the
curve (AUC) was 104±33 ng * h/ml, with a range from 65 to 169 ng
* h/ml. No patient had unsatisfactorily low trough levels during the study.
There was only a weak but significant (P<0.05) correlation between
dose per kg body weight and AUC and, as expected, an excellent correlation
(r2=0.73, P<0.001) between AUC and trough
level. Conclusion: Because of interindividual
variation between patients, therapeutic drug monitoring of tacrolimus is
mandatory. In this study, a daily dose of 0.15 mg/kg was sufficient in most
patients. We recommend the performance of at least one pharmacokinetic
study after establishing stable FK 506 trough levels to ascertain a safe
profile. 相似文献
9.
10.