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21.
BA Evans IA Hughes CL Bevan MN Patterson JW Gregory 《Archives of disease in childhood》1997,76(6):529-531
The androgen insensitivity syndrome is a heterogeneous disorder with a wide spectrum of phenotypic abnormalities, ranging from complete female to ambiguous forms that more closely resemble males. The primary abnormality is a defective androgen receptor protein due to a mutation of the androgen receptor gene. This prevents normal androgen action and thus leads to impaired virilisation. A point mutation of the androgen receptor gene affecting two siblings with partial androgen insensitivity syndrome is described. One had cliteromegaly and labial fusion and was raised as a girl, whereas the other sibling had micropenis and penoscrotal hypospadias and was raised as a boy. Both were shown to have the arginine 840 to cysteine mutation. The phenotypic variation in this family is thus dependent on factors other than abnormalities of the androgen receptor gene alone. 相似文献
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Blagova OV Nedostup AV Morozova NS Kogan EA Gagarina NV Sedov VP Zakliaz'minskaia EV Frolova IuV Dzemeshkevich SL Aleksandrova SA 《Kardiologiia》2012,52(4):85-94
We observed 15 patients with arrhythmogenic right ventricular dysplasia (ARVD): 9 with definite and 5 with probable ARVD (modified European Criteria, 2010). Eight patients had typical ARVD (frequent right ventricular extrasystoles, nonsustained right ventricular tachycardia without heart failure with or without myocarditis). Five patients had ARVD with progressive heart failure (right- or biventricular with or without myocarditis). Two patients had full scale arrhythmic form (sustained right ventricular tachycardia without or with right ventricular dilation, with or without myocarditis). In 3 cases diagnosis was confirmed morphologically or with DNA-diagnostics. This material allowed us to highlight the following specific points related to diagnostics of ARVD. Detection of fat at MRT is not obligatory for diagnosis, fat can be detected by MSCT; ventricular arrhythmias can move backwards in the picture of the disease; leading clinical manifestation can be unexplained right ventricular insufficiency; ARVD can be combined with other genetic cardiomyopathies as well as with infectious immune myocarditis (up to 50% of patients); elevated titer of anticardiac antibodies is not characteristic for isolated ARVD; myocardial biopsy allows to verify both ARVD and concomitant myocarditis. The paper also contains discussion of the role of myocarditis in various forms of ARVD and possibilities of its diagnosis and treatments. 相似文献
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Samarina AM Podgornyi OV Aleksandrova MA 《Bulletin of experimental biology and medicine》2007,144(4):602-607
Differentiation of neural stem/progenitor cells from neocortical primordium of the brain from 14-day mouse embryos was studied
by immunohistochemical methods during their culturing. Non-differentiated cells expressing nestin and vimentin persisted in
freely floating neurospheres throughout the experiment. Glioblasts, neuroblasts, and differentiated neurons were found in
neurospheres cultured in differentiating medium. However, neurons disappeared with increasing the number of passages, the
formation of neuroblasts was terminated, and only astrocytes and nestin-positive cells were seen in the culture. It was found
that cells of mouse embryonic neocortex lose the capacity for spontaneous multipotent differentiation during culturing.
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Translated from Kletochnye Tehnologii v Biologii i Medicine, No. 4, pp. 189–195, October, 2007 相似文献
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Early diagnosis of rheumatoid arthritis (RA) is a challenge due to an insufficient specificity of its clinical signs and a low sensitivity of presently used clinico-laboratory criteria. Cyclic citrullinated peptide antibodies (CCPA) are nowadays considered the most promising diagnostic and prognostic RA marker. A heterogeneous group of citrullinated peptides are the target for CCPA. The sensitivity of CCPA is comparable to that of the rheumatoid factor (RF), while its specificity for this disease is much higher. CCPA detection may be very useful for diagnostics of early sero-negative RA, differential diagnosis between RA and other rheumatic diseases, and for the prognosis of severe erosive articular lesion. Simultaneous detection of RF and CCPA allow for early RA diagnostics, which is important for timely administration of a more aggressive basic antirheumatic therapy. 相似文献
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DTS Chang IA Thyer D Hayne DJ Katz 《Annals of the Royal College of Surgeons of England》2014,96(6):e23-e25
Australia has a large migrant population with variable fluency in English. Interpreting services help ensure that healthcare services are delivered appropriately to these populations. However, the use of professional interpreters in hospitals is expensive. There are also issues with service availability and convenience. Mobile devices containing software with translating abilities have promising potential to improve communication between patients and hospital staff as an adjunct to professional interpreters. It is highly convenient and inexpensive. There are concerns about the accuracy of the interpretation done with such software and more research needs to be carried out to support or allay these concerns. For now, clinically important and medicolegal related interpretation should be undertaken by professional interpreters whereas less crucial tasks may be performed with the help of interpreting software on mobile devices. 相似文献