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排序方式: 共有2786条查询结果,搜索用时 31 毫秒
961.
Francisco Carratalá MD Francisco Galán MD Manuel Moya Xavier Estivill MD PhD Melanie A Pritchard Roser Llevadot PhD Marga Nadal MS PhD Monica Gratacòs Md PhD 《Developmental medicine and child neurology》1998,40(7):492-495
The case history of a 3-year-old boy without speech and who met 10 criteria of an autistic condition (DSM-IV) (American Psychiatric Association 1994) is reported. Psychometric evaluation, excluding the verbal scale, resulted in an IQ score of 56. The cytogenetic study showed a 20/22 translocation and an interstitial deletion within the region 22q11: 45, XY, -22, +der(20), t(20;22) (q13.3;q11.2), which was confirmed by fluorescence in situ hybridisation (FISH). Although deletions at 22q.11 are responsible for the DiGeorge syndrome; clinical, metabolic, and neurological image studies of the patient were inconsistent with this syndrome. In the clinical examination the patient presented with a mildly dysmorphic facies, pectus excavatum, and a short thumb. A 99m Tc HMPAO brain perfusion SPECT showed a hypoperfusion of the left temporoparietal cortex. As there have been no previous reports of autistic patients with abnormalities involving both chromosomes 20 and 22, these findings merit some discussion either as a possible cause of autism or as accompanying factors. 相似文献
962.
Acquired C1-inhibitor deficiency associated with a lupus-like anticoagulant activity 总被引:1,自引:0,他引:1
M Rodriguez J Ancochea C De Buen J L Merino G Marqués F Vivanco 《Annals of allergy》1988,61(5):348-350
A patient with two attacks of glottis angioedema in a 15-day period without any apparent stimulus was studied. The complement profile of the patient revealed depletion of C4, C2, C1 inhibitor (C1INH) and C1q, with normal values of C3. Patient's offspring had a normal complement profile. Cytofluorographic analysis of the peripheral blood cells showed a marked increase of B cells. In the clotting study, a circulating lupus-like anticoagulant activity (LLA) was detected with a noticeable decrease of prothrombin time. Hepatosplenomegaly was confirmed by abdominal echography and CAT. From the liver biopsy it was concluded to be a lymphoproliferative process compatible with germinal center lymphoma. It is suggested that the neoplasm is probably the origin of the LLA and the cause of C1 activation, producing the biochemical defect of C1INH and the clinical symptoms of angioedema. 相似文献
963.
P J Prada Gomez R Rodriguez G J Rijo I Alvarez A Querejeta R Alonso A Felipe J Bernaldo J Fernandez J Vivanco 《Clinical otolaryngology and allied sciences》1992,17(2):163-169
313 patients with cervical metastases from a squamous carcinoma of the head and neck treated with radiotherapy, were studied by means of a multivariant analysis in order to determine the prognostic factors for cure. These were: lymph node response to irradiation (P = 0.0000), size of node (P = 0.0000), radiotherapy dose (P = 0.0037), condition of the primary (controlled vs non-controlled) (P = 0.0015), recurrent cervical metastases post-surgery (P = 0.0286). 相似文献
964.
S. Md. Iqbal V. L. Sharma M. M. L. Arora Yoginder N. Mehra 《Indian journal of otolaryngology and head and neck surgery》1979,31(3):86-89
Three cases of leiomyosarcoma affecting the nose and paranasal sinuses are reported. The relevant medical literature is reviewed and a few conclusions drawn. Local recurrences are very common and the overall prognosis of these tumours remains poor in spite of radical surgery. Radiotherapy and chemotherapy have little role to play in the management of these tumours. 相似文献
965.
S. Md. Iqbai P. K. Banerjee P. K. Bajpai C. Ramanan 《Indian journal of otolaryngology and head and neck surgery》1990,42(2):75-77
Albright’s Syndrome is a rare disease which occurs sporadically. Its aetiology is not known. It is extremely rare in males.
To the best of our knowledge this Syndrome is not associated with any congenital visceral anomaly. We present a case of Albright’s
Syndrome in a boy who also showed a congenital ectopic kidney. The literature of this syndrome is reviewed with a view to
update the current knowledge. 相似文献
966.
Unfavorable neuroblastoma prognostic factor NLRR2 inhibits cell differentiation by transcriptional induction through JNK pathway
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Afzal Sheikh Atsushi Takatori Md Shamim Hossain Md Kamrul Hasan Masatoshi Tagawa Hiroki Nagase Akira Nakagawara 《Cancer science》2016,107(9):1223-1232
The novel human gene family encoding neuronal leucine rich repeat (NLRR) proteins were identified as prognostic markers from our previous screening of primary neuroblastoma (NB) cDNA libraries. Of the NLRR gene family members, NLRR1 and NLRR3 are associated with the regulation of cellular proliferation and differentiation, respectively. However, the functional regulation and clinical significance of NLRR2 in NB remain unclear. Here, we evaluated the differential expression of NLRR2, where high expressions of NLRR2 were significantly associated with a poor prognosis of NB (P = 0.0009), in 78 NBs. Enforced expression of NLRR2 in NB cells enhanced cellular proliferation and induced resistance to retinoic acid (RA)‐mediated cell growth inhibition. In contrast, knockdown of NLRR2 exhibited growth inhibition effects and enhanced RA‐induced cell differentiation in NB cells. After RA treatment, NLRR2 expression was increased and correlated with the upregulation of c‐Jun, a member of the activator protein‐1 (AP‐1) family in NB cells. Moreover, the expressions of NLRR2 and c‐Jun were suppressed by treatment with a JNK inhibitor, which ameliorated the promoter activity of the NLRR2 gene while knockdown of c‐Jun reduced NLRR2 expression. We then searched AP‐1 binding consensus in the NLRR2 promoter region and confirmed c‐Jun recruitment at a consensus. Conclusively, NLRR2 must be an inducible gene regulated by the JNK pathway to enhance cell survival and inhibit NB cell differentiation. Therefore, NLRR2 should have an important role in NB aggressiveness and be a potential therapeutic target for the treatment of RA resistant and aggressive NB. 相似文献
967.
Johnston LG Khanam R Reza M Khan SI Banu S Alam MS Rahman M Azim T 《AIDS and behavior》2008,12(2):294-304
This paper evaluates the effectiveness of respondent driven sampling (RDS) to sample males who have sex with males (MSM) in
Dhaka, Bangladesh. A major objective for conducting this survey was to determine whether RDS can be a viable sampling method
for future routine serologic and behavioral surveillance of MSM as well as other socially networked, hard to reach populations
in Bangladesh. We assessed the feasibility of RDS (survey duration; MSM social network properties; number and types of initial
recruits) to recruit a diverse group of MSM, the efficacy of an innovative technique (systematic coupon reduction) to manage
the implementation and completion of the RDS recruitment process and reasons why MSM participated or did not participate.
The findings provide useful information for improving RDS field techniques and demonstrate that RDS is an effective sampling
method for recruiting diverse groups of MSM to participate in HIV related serologic and behavioral surveys in Dhaka. 相似文献
968.
969.
McInnes F Clear N James G Stevens HN Vivanco U Humphrey M 《Pharmaceutical research》2008,25(4):869-874
Purpose The aim of this study was to evaluate clearance from the buccal cavity and pharmacokinetic profiles of a sublingual spray
formulation in the dog, to assist in interpretation of future pharmacokinetic studies.
Methods Radiolabelled buprenorphine in a spray formulation (400 μg/100 μl in 30% ethanol) was administered sublingually to four beagle
dogs, and the residence in the oral cavity was determined using gamma scintigraphy. Pharmacokinetic sampling was performed
to facilitate correlation of location of dose with significant pharmacokinetic events.
Results Scintigraphic imaging revealed that clearance of the formulation from the oral cavity was rapid, with a mean T
50% clearance of 0.86 ± 0.46 min, and T
80% clearance of 2.75 ± 1.52 min. In comparison, absorption of buprenorphine was relatively slow, with a T
max of 0.56 ± 0.13 h. Good buccal absorption despite short residence time can be explained by lipophilicity of buprenorphine
enabling rapid sequestration into the oral mucosa, prior to diffusion and absorption directly into systemic circulation.
Conclusion This study demonstrated rapid clearance of a sublingual solution from the canine oral cavity, with T
50% similar to results previously reported in man, providing initial confidence in using a conscious dog model to achieve representative
residence times for a sublingual solution. 相似文献
970.
Abdulla MH Sattar MA Salman IM Abdullah NA Ameer OZ Khan MA Johns EJ 《Autonomic & autacoid pharmacology》2008,28(2-3):87-94
1 This study was undertaken to characterize the renal responses to acute unilateral renal denervation in anaesthetized spontaneously hypertensive rats (SHR) by examining the effect of acute unilateral renal denervation on the renal hemodynamic responses to a set of vasoactive agents and renal nerve stimulation. 2 Twenty-four male SHR rats underwent acute unilateral renal denervation and the denervation was confirmed by significant drop (P < 0.05) in renal vasoconstrictor response to renal nerve stimulation along with marked diuresis and natriuresis following denervation. After 7 days treatment with losartan, the overnight fasted rats were anaesthetized (sodium pentobarbitone, 60 mg kg(-1) i.p.) and renal vasoconstrictor experiments were performed. The changes in the renal vasoconstrictor responses were determined in terms of reductions in renal blood flow caused by renal nerve stimulation or intrarenal administration of noradrenaline, phenylephrine, methoxamine and angiotensin II. 3 The data showed that there was significantly (all P < 0.05) increased renal vascular responsiveness to the vasoactive agents in denervated rats compared to those with intact renal nerves. In losartan-treated denervated SHR rats, there were significant (all P < 0.05) reductions in the renal vasoconstrictor responses to neural stimuli and vasoactive agents as compared with that of untreated denervated SHR rats. 4 The data obtained in denervated rats suggested an enhanced sensitivity of the alpha(1)-adrenoceptors to adrenergic agonists and possible increase of AT(1) receptors functionality in the renal vasculature of these rats. These data also suggested a possible interaction between sympathetic nervous system and renin-angiotensin system in terms of a crosstalk relationship between renal AT(1) and alpha(1)-adrenoceptor subtypes. 相似文献