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排序方式: 共有780条查询结果,搜索用时 15 毫秒
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D. P. Southall M.D. M.R.C.P. V. A. Stebbens B.Sc. Research Assistant R. Mirza B.Sc. Research Assistant M. H. Lang B.Sc. Research Assistant C. B. Croft M.B. Ch.B. F.R.C.S E. A. Shinebourne M.D. F.R.C.P 《Developmental medicine and child neurology》1987,29(6):734-742
Six of 12 children with Down syndrome (DS) tested by means of long-term tape-recordings of oxygen saturation, breathing movements and expired CO2 were found to have previously undetected and severe upper airway obstruction during sleep. In five cases the obstruction occurred in the pharynx and in the sixth it was due to bilateral choanal stenosis. When compared with age-matched controls, overnight tape-recordings showed episodes of abnormal arterial hypoxaemia and an abnormally elevated end-tidal CO2. Episodes of obstruction were most marked during sleep associated with a non-regular breathing pattern. Abnormal episodes of hypoxaemia were associated with continued breathing movements. Sometimes there was no airflow (complete obstruction); at other times airflow continued normally or was reduced in amplitude (partial obstruction). During episodes of partial or complete airway obstruction the inspiratory waveform showed a characteristic shape. These results show sleep-related upper airway obstruction to be an often undetected complication of DS and all necessary measures should be taken to overcome the obstruction when it reaches the stage of producing abnormal hypoxaemia. Choanal dilatation and tracheostomy were successful in treating two of the children. Tonsillectomy and adenoidectomy were successful for one child, but only of marginal benefit for two others. 相似文献
4.
A father and his two sons each presented with atrial tachycardia in the newborn period. The father went on to develop dilated cardiomyopathy. The first son (who also had transposition of the great arteries) died from the arrhythmia after surgery. The second son is currently successfully managed pharmacologically. 相似文献
5.
Berbaum KS; el-Khoury GY; Franken EA Jr; Kathol M; Montgomery WJ; Hesson W 《Radiology》1988,168(2):507-511
The effect of knowledge of localizing symptoms and signs in the detection of fractures was studied. Forty radiographs of the extremities were examined twice by seven radiologists; the sessions were separated by 4 months. In 26 cases, a subtle fracture was present; 14 cases were normal. In half of the cases at each session, the precise location of pain, tenderness, or swelling was provided. The observer was asked to determine if the case was normal or abnormal (provide the exact location of the fracture) and to indicate the degree of confidence in the diagnosis. Responses were converted to a numeric scale for analysis. Analysis of receiver operator characteristic parameters indicates that clues regarding location of trauma facilitate detection of fractures. The improvement is based largely on an increased true-positive rate without an increased false-positive rate, regardless of the decision criteria of the radiologist (overall willingness to "overread" or "underread"). This has direct clinical applicability and reinforces the plea of radiologists for precise clinical information. 相似文献
6.
J-L Stievenart EA Cabanis P Menard J Knoplioch A Lopez J Tamraz M-T Iba-Zizen B Philippe G Prevost J-C Bertrand 《Surgical and radiologic anatomy : SRA》1993,15(1):47-54
Summary In view of the variety of 3D representation techniques, a clinical study was carried out in order to evaluate their respective usefulness. It appears that a single technique cannot be claimed to be valid for all clinical situations and that a combination of representations brings more relevant information. Among the different techniques a clear delineation must be established between those which allow the accurate definition of landmarks (multiplanar reformation, surface representation), and those which do not (integral shading, reconstructed radiology). The main point is the possibility to recognize anatomical landmarks on these latter modes and to choose oblique cut planes in relation to them. Visualization quality is strongly dependent upon the acquisition protocol which must provide a spatial resolution as isotropic as possible.
Une revue de différents modes de visualisation en haute résolution d'un objet volumique avec des applications
Résumé Face à la variété des techniques de représentation 3D une étude clinique a été conduite pour évaluer leurs utilités respectives. Il apparait qu'une technique unique ne peut pas convenir à toutes les situations cliniques et qu'une combinaison de différents modes de présentation apporte une information plus pertinente. Parmi les différentes techniques une distinction claire doit être établie entre celles qui autorisent la prise de repères précis (reformatage multiplanaire, représentation de surface), et celles qui ne le permettent pas (ombrage intégral, radiologie reconstruite). Le point principal est la possibilité de reconnaître des repères anatomiques sur ces derniers modes et de choisir des plans de coupe en relation avec eux. La qualité de la visualisation dépend étroitement du protocole d'acquisition qui doit fournir une résolution aussi isotrope que possible.相似文献
7.
Igarashi S; Takiyama Y; Cancel G; Rogaeva EA; Sasaki H; Wakisaka A; Zhou YX; Takano H; Endo K; Sanpei K; Oyake M; Tanaka H; Stevanin G; Abbas N; Durr A; Rogaev EI; Sherrington R; Tsuda T; Ikeda M; Cassa E; Nishizawa M; Benomar A; Julien J; Weissenbach J; Tsuji S 《Human molecular genetics》1996,5(7):923-932
Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative
disorder caused by unstable expansion of a CAG repeat in the MJD1 gene at
14q32.1. To identify elements affecting the intergenerational instability
of the CAG repeat, we investigated whether the CGG/GGG polymorphism at the
3' end of the CAG repeat affects intergenerational instability of the CAG
repeat. The [expanded (CAG)n-CGG]/[normal (CAG)n- GGG] haplotypes were
found to result in significantly greater instability of the CAG repeat
compared to the [expanded (CAG)n- CGG]/[normal (CAG)n-CGG] or [expanded
(CAG)nGGG]/[normal (CAG)n-GGG] haplotypes. Multiple stepwise logistic
regression analysis revealed that the relative risk for a large
intergenerational change in the number of CAG repeat units (< -2 or >
2) is 7.7-fold (95% CI: 2.5-23.9) higher in the case of paternal
transmission than in that of maternal transmission and 7.4-fold (95% CI:
2.4-23.3) higher in the case of transmission from a parent with the
[expanded (CAG)n-CGG]/[normal (CAG)n-GGG] haplotypes than in that of
transmission from a parent with the [expanded (CAG)n-CGG]/[normal
(CAG)n-CGG] or [expanded (CAG)n- GGG]/[normal (CAG)n-GGG] haplotypes. The
combination of paternal transmission and the [expanded (CAG)n-CGG]/[normal
(CAG)n-GGG] haplotypes resulted in a 75.2-fold (95% CI: 9.0-625.0) increase
in the relative risk compared with that of maternal transmission and the
[expanded (CAG)n-CGG]/[normal (CAG)n-CGG] or [expanded (CAG)n- GGG]/[normal
(CAG)n-GGG] haplotypes. The results suggest that an inter- allelic
interaction is involved in the intergenerational instability of the
expanded CAG repeat.
相似文献
8.
Functional consequences of ROMK mutants linked to antenatal Bartter's syndrome and implications for treatment 总被引:4,自引:0,他引:4
The antenatal variant of Bartter's syndrome is an autosomal recessive
kidney disease characterized by polyhydramnios, premature delivery,
hypokalemic alkalosis and hypercalciuria. It is genetically heterogeneous,
having been linked recently to mutations in an ATP- sensitive, renal outer
medullary K+channel, ROMK, and earlier to mutations in the Na-K-2Cl
co-transporter, NKCC2. We characterized four of the mutations reported in
three heterozygous ROMK variants of antenatal Bartter's and found that each
expressed a distinct phenotype in Sf9 cells. One mutation expressed normal
function and appears to be an allelic polymorphism. The other three
mutations produced channels with significantly reduced K+fluxes. However,
the mechanisms in each case were different and reflected abnormalities in
phosphorylation, proteolytic processing or protein trafficking. The
different mechanisms may be important in the design of appropriate therapy
for patients with this disease.
相似文献
9.
Detecting pre-ovulatory luteinizing hormone surges in urine 总被引:2,自引:1,他引:2
Kesner JS; Knecht EA; Krieg EF Jr; Wilcox AJ; O'Connor JF 《Human reproduction (Oxford, England)》1998,13(1):15-21
The study objectives were to determine (i) if pre-ovulatory luteinizing
hormone (LH) surges, undetected in urine by two immunoradiometric assays
(IRMA), were detectable by an ultrasensitive immunofluorometric assay
(IFMA) and (ii) the influence of creatinine adjustment on the detection and
timing of the urinary LH surges. Daily urine specimens were contributed by
healthy 25-36 year old volunteers during 14 ovulatory menstrual cycles for
an epidemiological study conducted in 1983-1985. Specimens were selected as
having been previously assayed by two IRMA without consistently detecting
LH surges. These urine specimens were remeasured using an IFMA and adjusted
for creatinine concentration. IFMA measurements revealed unambiguous LH
surges in all cycles. Adjusting IRMA urinary LH values for creatinine
concentrations revealed previously undetected LH surges in four of eight
cycles. Creatinine adjustment also altered the timing of IRMA and IFMA LH
surges by 1-5 days. These results demonstrate an IFMA that detects pre-
ovulatory LH surges in unpreserved, frozen urine from cycles where such
surges were previously undetectable. Further, creatinine adjustment can
markedly affect detection and timing of the onset and peak of the urinary
LH surge. While our analysis suggests that this adjustment improves the
validity of the LH measure, this requires further investigation.
相似文献
10.