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1.
2.
Congenital cardiac malformations in Adams-Oliver syndrome 总被引:1,自引:0,他引:1
Whole genomic hprt clones were used in Southern analysis to screen the integrity of the hprt gene in a family that includes a patient with HPRT enzyme deficiency causal to Lesch-Nyhan syndrome. A 5 kb DNA sequence deletion was found to have its endpoints in the first and third introns. The probes identified the carrier status of female family members, aided by an RFLP carried by the mother's normal X-chromosome. 相似文献
3.
Sandra Lobo Jaroslav Cervenka Arnold London Mary Ella M. Pierpont 《American journal of medical genetics. Part A》1992,43(4):701-703
We report on a patient with interstitial deletion of 10q and compare her to 8 previously described patients, 2 of whom have chromosomal breakpoints similar to our patient. Minor anomalies including broad forehead, hypertelorism, strabismus, prominent philtrum, and “dysplastic” pinnae are present in our patient. Psychomotor retardation and hypotonia are universal findings in 10q interstitial deletion. Growth retardation, not present in our patient, is seen in some. These clinical findings are sufficiently distinct to suggest early chromosome studies. © 1992 Wiley-Liss, Inc. 相似文献
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5.
Jonathan C. Craig Les M. Irwig James Christie Albert Lam Ella Onikul John F. Knight Premala Sureshkumar L. Paul Roy 《Pediatric nephrology (Berlin, Germany)》1997,11(4):455-459
Variability in the interpretation of micturating cystourethrography by paediatric radiologists for the diagnosis of vesicoureteric
reflux in children was evaluated. All 265 micturating cystourethrograms (MCUs) that were available from 304 consecutive children
aged 0.5 – 61 months – who were investigated after their first urine infection between 1993 and 1995 as part of a prospective
cohort study – were selected for interpretation. Three experienced paediatric radiologists from the same department independently
interpreted the MCUs according to the grading system of the International Reflux Study in Children, from grades 0 to V, with
the presence of intrarenal reflux also noted. Apart from being informed that urine infection was the indication for the MCU,
no other clinical information was given to the radiologists. The indices of variability used were the percentage of agreement
and the kappa statistic, expressed as a percentage. Both measures were weighted with integers representing the number of categories
from perfect agreement. Disagreement was analysed for children and kidneys. For the diagnosis of vesicoureteric reflux in
individual patients, including grade, the percentage of agreement was 96% – 97% (kappa 90% – 91%) and the weighted percentage
of agreement was 96% – 98% (weighted kappa 93% – 94%). The same high level of agreement was present for individual kidneys,
with a percentage of agreement of 97% – 98% (kappa 89% – 92%) and a weighted percentage of agreement of 98% – 99% (kappa 94% – 95%).
There was near perfect agreement in the interpretation of radiological micturating cystourethrography among three experienced
paediatric radiologists for the diagnosis and grade of vesicoureteric reflux. Any variations in the medical care of children
suspected of having vesicoureteric reflux are not explained by differences in the reporting of this diagnostic test.
Received June 19, 1996; received in revised form November 1, 1996; accepted December 6, 1996 相似文献
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7.
Timing of different virus neutralizing 19S and 7S antibodies in natural Coxsackie infections of newborn babies and adults 总被引:1,自引:0,他引:1
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Neutralizing Coxsackie antibodies arising from natural infections with Coxsackie virus type B3 or B5 were studied in adults and newborn babies. No differences could be found between the antibody response of the newborn babies and that of the adults.
The antibody titres rose approximately as rapidly in the babies as in the adult patients, and the means of the peak titres did not differ significantly in the two groups. Early in the infection the neutralizing antibodies of both newborn babies and adults were exclusively IgM. There was a gradual shift to IgG in the course of 3 months, and this shift was as rapid in babies as in adults.
相似文献8.
Ella Israeli Batya Raz Hedwiga Kerner David Barzilai 《Breast cancer research and treatment》1985,6(3):241-248
The levels of cyclic adenosine 3:5-monophosphate (cAMP) and cyclic guanosine 3:5-monophosphate (cGMP) were studied in dimethylbenz(a)anthracene (DMBA)-induced mammary tumors of Sprague-Dawley rats and in human breast cancer. In the rat carcinomas, these levels were significantly lower than in non-malignant tissues when calculated on the basis of DNA content, but higher (cAMP) or equal (cGMP) when calculated on the basis of weight. In human breast cancer the cyclic nucleotide levels were higher than in non-malignant tissues according to both methods of calculation. No correlation was found in human carcinomas between the cyclic nucleotide levels and mitotic index, nuclear grade, tumor size, or lymph node involvement. The rat tumors were subclassified according to state of differentiation, mitotic index, and state of development. Not all the sub-groups had cAMP levels different from normal values. Differences in cAMP levels between the sub-groups could not be correlated with tumor growth rates and/or mitotic index. Thus, cyclic nucleotides may not be useful in prognosis of breast cancer. 相似文献
9.
10.
P Zwanzger D Eser S Aicher C Schüle T C Baghai F Padberg R Ella H-J M?ller R Rupprecht 《Neuropsychopharmacology》2003,28(5):979-984
Cholecystokinin-tetrapeptide (CCK-4) induces panic attacks both in patients with panic disorder (PD) and healthy volunteers. It has been shown that panic elicited by CCK-4 is improved after treatment with antidepressants. Moreover, a reduction of CCK-4-induced panic has also been demonstrated after treatment with lorazepam in single subjects and after selective GABAergic treatment with vigabatrin. Although benzodiazepines are widely used as anxiolytics, no controlled study on the effects of benzodiazepines on CCK-4-induced panic symptoms is available so far. Therefore, we investigated the effects of alprazolam and placebo on CCK-4-induced panic symptoms in a double-blind, placebo-controlled study. A total of 30 healthy subjects were challenged with 50 microg CCK-4. Out of these 30 subjects, 26 showed a marked panic response to CCK-4. Subjects were rechallenged after a 7-day interval and treated with 1 mg alprazolam or placebo 1 h prior to the second CCK-4 challenge. Panic was assessed using the acute panic inventory (API) and a DSM-IV-derived panic symptom scale (PSS). Moreover, the number of reported symptoms and self-rated anxiety and arousal were recorded. We found a significant reduction of the API and PSS scores and of the number of reported symptoms compared to placebo. Moreover, compared to placebo the CCK-4-induced ACTH and cortisol release were significantly attenuated during the CCK-4 challenge after alprazolam treatment. However, also placebo treatment reduced CCK-4-induced anxiety and HPA-axis activation to a certain extent. In conclusion, our data show that alprazolam reduces CCK-4-induced panic, which supports the hypothesis of a possible interaction between the GABA and the CCK system. 相似文献