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21.
22.
Meniscal abnormalities: prospective correlation of double-contrast arthrography and arthroscopy 总被引:2,自引:0,他引:2
In a prospective study conducted over a 12-month period, 30 patients underwent double-contrast arthrography of the knee followed by arthroscopic study. An 80% correlation rate was found between results. Arthrography had a higher rate of accuracy (93%) than arthroscopy (84%) and had a 7% false-positive and 0% false-negative rate. A commonly overlooked arthrographic sign--the triple-S or stuck sail sign--was 91% accurate in the prediction of meniscal tears. The complementary nature of the two examinations is discussed. 相似文献
23.
24.
Familial dyslipidemic hypertension. Evidence from 58 Utah families for a syndrome present in approximately 12% of patients with essential hypertension 总被引:17,自引:0,他引:17
R R Williams S C Hunt P N Hopkins B M Stults L L Wu S J Hasstedt G K Barlow S H Stephenson J M Lalouel H Kuida 《JAMA》1988,259(24):3579-3586
Population-based sibships with essential hypertension diagnosed before the age of 60 years are being screened in Utah to find two or more hypertensive siblings with the same biochemical abnormality as a clue to an inherited cause for their specific type of hypertension. Among 131 hypertensive subjects in 58 sibships, concordant abnormalities in fasting serum lipid concentrations were observed in two or more siblings in 48% of the sibships. After adjusting for effects of antihypertensive medications, abnormal values reported in only 10% of the Lipid Research Clinics data were observed in 30% of patients for serum triglycerides, 19% for serum low-density lipoprotein cholesterol, and 39% for high-density lipoprotein cholesterol. More than one lipid level was abnormal in almost all concordant sibships, suggesting an association between hypertension and a syndrome of mixed lipid abnormalities, probably familial combined hyperlipidemia (renamed "familial combined dyslipidemia" because of common low high-density lipoprotein cholesterol levels). We conclude that familial dyslipidemic hypertension may be a specific syndrome with lipid abnormalities more severe than blood pressure elevations. 相似文献
25.
Day DJ; Speiser PW; Schulze E; Bettendorf M; Fitness J; Barany F; White PC 《Human molecular genetics》1996,5(12):2039-2048
Steroid 21-hydroxylase deficiency is among the most common inborn errors of
metabolism in man. Characterization of mutations in the 21- hydroxylase
gene (CYP21) has permitted genetic diagnosis, facilitated by the polymerase
chain reaction (PCR). The most common mutation is conversion of an A or C
at nt656 to a G in the second intron causing aberrant splicing of mRNA.
Homozygosity for nt656G is associated with profoundly deficient adrenal
cortisol and aldosterone synthesis, secondary hypersecretion of adrenal
androgens, and a severe form of congenital adrenal hyperplasia (CAH)
characterized by ambiguous genitalia and/or sodium wasting in newborns.
During the course of genetic analysis of CYP21 mutations in CAH families,
we and others have noticed a number of relatives genotyped as nt656G
homozygotes, yet showing no clinical signs of disease. A number of lines of
evidence have led us to propose that the putative asymptomatic nt656G/G
individuals are incorrectly typed due to dropout of one haplotype during
PCR amplification of CYP21. For prenatal diagnosis, we recommend that
microsatellite typing be used as a supplement to CYP21 genotyping in order
to resolve ambiguities at nt656.
相似文献
26.
27.
Summary Mechanically skinned skeletal muscle fibres of three crustaceans (barnacle, crayfish and crab) and two insects (cockroach and cricket) were activated in Ca2+- and Sr2+-buffered solutions of different concentrations and the isometric force response was determined. The maximum force response induced by Sr2+ (P
0
Sr
) was only 0–10% of that induced by Ca2+ (P
0
Ca
) in all crustacean muscles, but approached 90% in insects. Experiments on barnacle muscle fibres activated simultaneously by Ca2+ and Sr2+ suggested that Sr2+ competes with Ca2+ for binding onto the regulatory sites without, however, being able to turn all of them on as efficiently as Ca2+. Interestingly, the ratioP
0
Sr
/P
0
Ca
and the sensitivity for both Sr2+ and Ca2+ increased substantially after 4–6 h following the dissection of the animals in most intact decapod muscle fibres and after 24 h in most barnacle muscle fibres. The steepness of the activation curves for both Ca2+ and Sr2+ was similar for each muscle regardless of the age of the fibre and implied that more than 2 Ca2+ (2 Sr2+) were involved in the activation process of each muscle.A Ca2+-induced Ca2+ release mechanism of physiological importance was found to operate in all arthropod muscle fibres investigated. 相似文献
28.
Theory and observation of spontaneous oscillatory contractions in skeletal myofibrils 总被引:1,自引:0,他引:1
Summary At low levels of activation, an isometrically-held myofibrillar preparation on the descending limb may exhibit persistent oscillations of period 1–6 s in tension and sarcomere lengths. We propose a sarcomeric theory of spontaneous oscillatory contraction, based on the phenomena of force creep and delayed length activation. The time delay leads to oscillations and controls their period. A computer model using these ideas simulates spontaneous oscillatory contraction for fixed-end fibres only if isometric tension capacity varies slightly along the fibre. The form of this inhomogeneity controls a diversity of spontaneous oscillatory contraction behaviour: the tension waveform can vary from large and sinusoidal to small-amplitude pulses or chaotic behaviour, and these variations are observed in slow-twitch soleus fibres from the same animal (rat). The model predicts that oscillatory and quiescent regions coexist in the fibre, with large-amplitude sawtooth waveforms in sarcomere length in the former as observed. It can also generate travelling-wave structures, similar to those found by the Tokyo group, in oscillating regions when there is a spatial gradient in isometric tension capacity. Phase discontinuities in sarcomere length occur near the oscillatory-quiescent boundary. Predictions for the Ca2+ concentrations and sarcomere lengths in which spontaneous oscillatory contraction occurs and for differences in the spontaneous oscillatory contraction frequencies of fast-and slow-twitch fibres compare well with experiment. Spontaneous oscillatory contraction is also predicted under isotonic conditions. 相似文献
29.
A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p 总被引:10,自引:3,他引:10
Bashlr Rumaisa; Strachan Tom; Keers Sharon; Stephenson Anthea; Mahjneh Ibrahim; Marconi Giamplero; Nashef Lina; Bushby Kate M. D. 《Human molecular genetics》1994,3(3):455-457
The limb-girdle muscular dystrophies are a clinically and geneticallyheterogeneous group of disorders. We have ostudied two largeinbred families of different ethnic origin and excluded linkageto LGMD2 on chromosome 15q and SCARMD on chromosome 13. Proceedingto a genomic linkage search, we have now identified linkageto markers D2S134 and D2S136 on chromosome 2p (maximum lod score3.57 at zero recombination). The phenotype in the two familieswas similar, with onset in the pelvic girdle musculature inthe late teens and usually relatively slow progression. Thiswork Identifies a second locus for autosomal recessive limb-girdlemuscular dystrophy. 相似文献
30.
The development of both adenocarcinoma of the jejunum and in situ squamous carcinoma of the oesophagus in an adult coeliac patient is described. Good evidence that adenocarcinoma of jejunum occurs more frequently in patients with coeliac disease has recently become available though this association has been suggested for some time. While oesophageal carcinoma has long been associated with coeliac disease, in situ carcinoma of oesophagus has not been previously described in these circumstances. We feel that the risk of this complication, as calculated from published series, warrants a screening programme for oesophageal malignancy in adult coeliacs. 相似文献