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1.
J. Savige L. Amos Frank Ierino H. G. Mack R. C. Andrew Symons P. Hughes 《Ophthalmic genetics》2016,37(4):369-376
Background: Dense deposit disease and atypical hemolytic uremic syndrome are often caused by Complement Factor H (CFH) mutations. This study describes the retinal abnormalities in dense deposit disease and, for the first time, atypical haemolytic uremic syndrome. It also reviews our understanding of drusen pathogenesis and their relevance for glomerular disease. Methods: Six individuals with dense deposit disease and one with atypical haemolytic uremic syndrome were studied from 2 to 40 years after presentation. Five had renal transplants. All four who had genetic testing had CFH mutations. Individuals underwent ophthalmological review and retinal photography, and in some cases, optical coherence tomography, and further tests of retinal function. Results: All subjects with dense deposit disease had impaired night vision and retinal drusen or whitish-yellow deposits. Retinal atrophy, pigmentation, and hemorrhage were common. In late disease, peripheral vision was restricted, central vision was distorted, and there were scotoma from sub-retinal choroidal neovascular membranes and atypical serous retinopathy. Drusen were present but less prominent in the young person with atypical uremic syndrome due to a heterozygous CFH mutation. Conclusions: Drusen are common in forms of C3 glomerulopathy caused by compound heterozygous or heterozygous CFH mutations. They are useful diagnostically but also impair vision. Drusen have an identical composition to glomerular deposits. They are also identical to the drusen of age-related macular degeneration, and may respond to the same treatments. Individuals with a C3 glomerulopathy should be assessed ophthalmologically at diagnosis, and monitored regularly for vision-threatening complications. 相似文献
2.
Leonidas JC; Berdon WE; Valderrama E; Neveling U; Schuval S; Weiss SJ; Hilfer C; Godine L 《Radiology》1996,198(2):377
3.
Non-operative management of malignant intestinal obstruction 总被引:1,自引:0,他引:1
W H Isbister P Elder L Symons 《Journal of the Royal College of Surgeons of Edinburgh》1990,35(6):369-372
Intestinal obstruction is a relatively common clinical problem in patients with advanced cancer, particularly those with colorectal and ovarian tumours. A proportion of patients have a non-malignant cause for their obstruction, but in the remaining patients obstruction will be caused by advanced malignancy itself. In the past, most patients were either managed surgically or by nasogastric intestinal decompression and intravenous hydration. Surgery in patients with advanced cancer is associated with high mortality and morbidity. Effective surgical decompression is difficult. We have managed 24 patients with advanced abdominal malignancy and previous operative or radiological evidence of intestinal obstruction without operation. The technique is only appropriate for patients in whom a solitary or correctable obstructing lesion can be excluded. The patient is encouraged to take free fluid and a diet low in fibre. Intestinal colic is managed with morphine, the dose required being titrated for each individual patient against background pain and colic. Vomiting is controlled by the parenteral administration of antiemetic drugs. To simplify drug administration, morphine and metoclopramide are mixed in the same syringe and infused subcutaneously simultaneously. In our 24 patients the mean survival rate after the onset of complete obstruction was 29.2 days. The mean dose of morphine infused was 9.2 mg/h, and the mean dose of metoclopramide was 6.9 mg/h. The case of an 82-year-old male patient is presented. We commend the technique to surgeons contemplating surgery in these very difficult patients. It is simple, relatively non-invasive and saves the patients the pain, discomfort and complications of unproductive surgery. 相似文献
4.
The effect of early visual deprivation on the ability of dark- (DR) and light-reared (LR) rats to learn temporal discriminations involving sounds and lights and to abstract the intersensory correspondence involving duration from initial modality-specific training was examined in this study. While visually inexperienced DR rats were somewhat less successful in acquiring an initial discrimination involving visual events and responding to a rule reversal per se, they were as effective as their visually experienced LR counterparts in demonstrating cross-modal transfer (CMT) to signals in a new modality. The results revealed by the investigation are discussed in terms of the consequences and lack of consequences of the manipulation of early visual experience on the ontogeny of intersensory perceptual development in mammals. 相似文献
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7.
Kaufmann SJ; Sharif K; Sharma V; McVerry BA 《Human reproduction (Oxford, England)》1998,13(2):498-499
The patient was diagnosed in childhood as having severe congenital
neutropenia and had recurrent admissions with severe infections. In 1987,
prior to getting married, she was sterilized. She continued to require i.v.
antibiotics when she contracted a severe infection. On one occasion, she
was treated with growth colony stimulating factor (G- CSF). Her increased
neutrophil count was sustained following this treatment. In June 1993, she
wished to start a family and underwent in- vitro fertilization (IVF)
treatment. G-CSF was given prior to oocyte retrieval. She conceived on her
first cycle and an ultrasound scan revealed a singleton pregnancy.
Throughout the course of the pregnancy, her white cell count was monitored
closely and remained at <1.0x10(9)/l. The pregnancy progressed
uneventfully and at 37 weeks gestation she was admitted for G-CSF
injections. At 38 weeks she was delivered of a boy weighing 3350 g, by
elective Caesarean section. His white cell count was normal. This is the
first case of G-CSF being used before conception and during pregnancy in a
patient with congenital neutropenia. It shows that advances in cytokine
therapy and close interdisciplinary liaison can lead to a successful
outcome and help patients, who would otherwise remain childless, to achieve
a family.
相似文献
8.
Prevalence and Predictors of Adolescent Dating Violence 总被引:1,自引:0,他引:1
Patricia Y. Symons MSN RN CRNP Maureen W. Groër PhD RN Patricia Kepler-Youngblood MSW Victoria Slater MSN RN 《Journal of child and adolescent psychiatric nursing》1994,7(3):14-23
This study of 561 rural North Carolina adolescents examined relationships among race, parental educational level, family structure, parental discipline, family violence exposure, and dating violence experiences. The sample was predominantly female (77%), with 40% black and 58% white. The subjects ranged in age from 15 to 20 years; 80% of the adolescents were 16–18. Dating violence experiences were assessed by a researcher-constructed instrument measuring warning signs of potential violence and actual violent experiences. The results suggested that recognition of abusive relationships is difficult, with many adolescents denying such a relationship but actually reporting numerous abusive events. Sixty percent had experienced violent acts during dating relationships; 24% reported extreme violence (episodes of rape, use of weapons). More than 20% of the adolescents reported family violence and 2.2% reported family sexual abuse. The study suggests new avenues for research in adolescent date violence, and for interventions with high risk groups. 相似文献
9.
Silber SJ; Nagy Z; Devroey P; Tournaye H; Van Steirteghem AC 《Human reproduction (Oxford, England)》1997,12(11):2422-2428
The aim of the study was to determine whether a prior diagnostic testicle
biopsy can predict success or failure of testicular sperm extraction (TESE)
with intracytoplasmic sperm injection (ICSI) in patients with
non-obstructive azoospermia caused by testicular failure, and what is the
minimum threshold of sperm production in the testis which must be surpassed
for spermatozoa to reach the ejaculate. Forty- five patients with
non-obstructive azoospermia caused by testicular failure underwent
diagnostic testicle biopsy prior to a planned future TESE-ICSI procedure.
The diagnostic testicle biopsy was analysed quantitatively, and correlated
with the quantitative findings of spermatogenesis in patients with normal
spermatogenesis, as well as with the results of subsequent attempts at
TESE-ICSI. Men with non- obstructive azoospermia caused by germinal failure
had a mean of 0-6 mature spermatids/seminiferous tubule seen on a
diagnostic testicle biopsy, compared to 17-35 mature spermatids/tubule in
men with normal spermatogenesis and obstructive azoospermia. These findings
were the same for all types of testicular failure whether Sertoli cell
only, maturation arrest, cryptorchidism, or post-chemotherapy azoospermia.
Twenty-two of 26 men with mature spermatids found in the prior testis
biopsy had successful retrieval of spermatozoa for ICSI, 12 of their
partners became pregnant, and are either ongoing or delivered. The study
suggests that 4-6 mature spermatids/tubule must be present in the testis
biopsy for any spermatozoa to reach the ejaculate. More than half of
azoospermic patients with germinal failure have minute foci of
spermatogenesis which are insufficient to produce spermatozoa in the
ejaculate. Prior diagnostic testicle biopsy analysed quantitatively (for
the presence of mature spermatids) can predict subsequent success or
failure with TESE-ICSI. Incomplete testicular failure may involve a sparse
multi-focal distribution of spermatogenesis throughout the entire testicle,
rather than a regional distribution. Therefore, it is possible that massive
testicular sampling from many different regions of the testes may not be
necessary for successful TESE-ICSI.
相似文献
10.
β-Lactoglobulin was isolated from infant formulae that were ultra high temperature (UHT) -treated, sterilized or spray-dried. The effect of the isolated β-lactoglobulin on SfaII-fimbriae-mediated adhesion of Escherichia coli to human ileostomy glycoproteins was studied in vitro. β-Lactoglobulin isolated from sterilized formulae was found to perform significantly less well than preparations from spray-dried formulae (p = 0:05). Great heterogeneity was observed in the adhesion inhibitory capacity of β-lactoglobulin isolated from UHT-treated formulae. Therefore, no significant difference was observed between UHT-treated and sterilized formulae or spray-dried formulae (p < 0:10). It can be hypothesized that β-lactoglobulin from spray-dried and some UHT-treated infant formulae may affect the colonization of mucous membranes by E. coli strains causing neonatal septicaemia and meningitis. 相似文献