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121.
Kentaro Yamasaki Takafumi Ishida Tatsuya Kishino Norio Niikawa 《American journal of medical genetics. Part A》2002,111(3):301-306
We report on a Thai family with dominantly inherited malformation syndrome with upper limb anomalies, short stature, quadricuspid aortic valve, and minor craniofacial anomalies. The affected individuals comprised a mildly affected mother, a moderately affected daughter, and a most severely affected son. The daughter and son had short stature. The craniofacial abnormalities comprised frontal bossing, hypoplastic nasal bones, depressed nasal bridge, and broad nasal alae. The upper limb defects varies among the patients, ranging from radial ray defects in the mother through radial and ulnar ray defects with unilateral humeral hypoplasia in the daughter to radial ray defects with severe oligodactyly and bilateral humeral hypoplasia in the son. All patients in this family had hypoplasia of the shoulder girdle and resembled what is observed in many families with Holt‐Oram syndrome. Moreover, the son showed quadricuspid aortic valve with mild aortic regurgitation. However, the present family did not show any mutation of the TBX5 gene, a disease‐causing gene of Holt‐Oram syndrome. The present family deserves further investigation on other genes that play a role in the development of the upper limbs, particularly of radial rays. © 2002 Wiley‐Liss, Inc. 相似文献
122.
Lucio Posteraro Fabrizio Pezzoni Emilio Varalda Gloria Fugazza Anna Mazzucchi 《Journal of neurology》1991,238(6):337-339
Summary A patient who developed a unilateral opercular syndrome following a cerebrovascular accident is described. Computed tomography showed that the lesion did not affect the opercular cortex, but involved deep white matter and the head of the caudate nucleus of the left hemisphere. Persistent hypophonia and transient aphasia were associated. Comparison with previous cases is discussed. 相似文献
123.
A family with two members (two generations) exhibiting Turner syndrome is described. Cytogenetic studies on these individuals showed the presence of multiple X chromosome changes. Evidence is presented to show that the maternally inherited X chromosome is the chromosome involved in the structural alterations observed. The effect of a tendency of the maternal X chromosome to break at specific sites on the development of the Turner phenotype and abnormal karyology is discussed. 相似文献
124.
The present study examined the influences of dopamine (DA) receptor stimulation on enkephalin (Met5-enkephalin; ME) and tachykinin (substance P; SP) systems of basal ganglia of Sprague-Dawley rats, lesioned as neonates with 6-hydroxydopamine (6-OHDA). It has been proposed that the neonatal 6-OHDA-lesioned rat could serve as a model for the DA deficiency and self-injurious behavior (SIB) observed in the childhood neurological disorder. Lesch-Nyhan syndrome. In agreement with earlier work, the present study found that the neonatal 6-OHDA treatment at 3 days of age, reduced DA and caused an increase in ME and a decrease in SP content in the striatum and substantia nigra, when tested as adults. Administration of the DA precursor, L-dihydroxyphenylalanine (L-DOPA), to lesioned animals, induced SIB; increased DA and DOPAC levels; produced a greater decrease (-64%) in SP levels in the striatum and substantia nigra than was observed with lesion alone (-28%). The L-DOPA-induced decrease in SP levels and the SIB observed in the lesioned animals were blocked by pretreatment with the D1 receptor antagonist, SCH-23390. Moreover, administration of the D1 receptor agonist, SKF-38393, but not the D2 agonist, LY-171555, to lesioned animals mimicked the L-DOPA responses in all respects, except that the agonists did not alter DA or DOPAC levels. None of the DA agonists or antagonists treatments affected lesion-induced increase in ME levels in the striatum. These results indicate for the first time, that SIB precipitated by DA agonists in neonatal dopaminergic denervated animals, is associated with a marked and selective decrease in SP in the striatonigral SP neurons. This process has two components: (a) a retarded development of the SP system due to neonatal dopaminergic denervation: and (b) a depletion of the remaining SP, presumably by enhanced release due to D1 DA receptor-mediated activation of striatonigral SP neurons. 相似文献
125.
Anorectal function in the solitary rectal ulcer syndrome 总被引:8,自引:6,他引:2
Nigel R. Womack F.R.C.S. Professor Norman S. Williams M.S. John H. Holmfield Mist John F. Morrison Ph.d. 《Diseases of the colon and rectum》1987,30(5):319-323
The anorectal function of nine patients with solitary rectal ulcer syndrome (SRUS) (5 F: 4 M, median age, 27 (range, 19–41
years) and nine control subjects (5 F: 4 M, median age, 47 (35–66)P<0.01) has been investigated by a new technique that radiologically visualizes the anorectum during voiding of a semisolid
contrast medium, while simultaneously measuring intrarectal pressure and anal sphincter EMG activity. A degree of rectal prolapse
was demonstrated in eight of the SRUS patients; six of these lesions were clinically occult. Abnormal failure of the anal
sphincter to relax on voiding was present in seven of the SRUS patients. These abnormalities resulted in the SRUS patients
requiring a greater increase in intrarectal pressure (median, 100 cm water) to void than the control subjects (median, 65
cm water,P<0.01). This combination of high intrarectal pressure and rectal prolapse during straining seems to be the cause of SRUS
This work was supported by a grant from the Medical Research Council. 相似文献
126.
阻塞性睡眠呼吸暂停综合征相关高血压病的临床特点 总被引:4,自引:0,他引:4
探讨阻塞性睡眠呼吸暂停综合征相关性高血压病 (obstructive sleep apnea associated hypertension,OSAAHT)的临床特点。对照分析 2 4例 OSAAHT和年龄及病期相匹配的 2 2例原发性高血压病患者 ,比较症状、体重指数、治疗前睡眠前后血压变化及 2 4h血压动态监测等指标。结果发现 OSAAHT患者白天明显过度困倦 ,睡眠监测呼吸紊乱指数 (AHI)为 (4 5 .1± 15 .3)次 / h,体重指数高于对照组 [(2 7.9± 2 .5 ) kg/ m2比 (2 3.9± 1.7) kg/ m2 ,P<0 .0 1]。OSAAHT睡前血压 (137.1± 10 .5 ) / (88.4± 6 .6 ) mm Hg,清晨血压 (15 5 .9± 14.4) / (10 1.8± 4.9) m m Hg;原发性高血压病组睡前血压 (149.2± 12 .5 ) / (91.7± 6 .2 ) mm Hg,清晨血压 (140 .7± 9.4) / (83.4± 5 .9) mm Hg;两组睡前收缩压及清晨收缩压和舒张压均有差异 ,P<0 .0 1。OSAAHT夜间血压下降率明显小于原发性高血压病对照组[(13.3± 4.9) %比 (4 .5± 1.6 ) % ,P<0 .0 1]。提示 OSAAHT除了睡眠呼吸障碍外 ,还具有以下临床特点 :清晨睡醒时血压较高 ,夜间血压下降幅度变小 ,白天过度困倦以及肥胖等 相似文献
127.
J. Saßmannshausen N. Bornfeld A. Kluge W. Sauerwein F. Härting A. Wessing 《International ophthalmology》1989,13(4):243-251
Advanced malignant melanomas of the uvea unsuited for an eye salvaging approach require enucleation of the tumor containing eye. A series of 68 patients is reported who underwent enucleation combined with insertion of a spherical dura-encased implant after 30 Gray pre-irridiation therapy of the orbit. Postoperative results with special attention to cosmetic outcome and motility of the prosthesis suggest that the insertion of an orbital implant should be preferred to the enucleation with no implant. 相似文献
128.
青年急性冠脉综合征冠脉造特点及随访 总被引:2,自引:0,他引:2
目的:探讨青年急性冠状动脉综合征(ACS)冠状动脉(冠状)造影特点及其与远期心脏事件的关系。方法:比较青年ACS与老年ACS患者冠脉病变程度、范围,并进行心脏事件随访。结果:78例青年ACS患者有冠脉病变74例(94.9%),单支病变46例(58.9%);171例老年ACS患者有冠脉病变166例(97.1%),单支病变41例(23.9%)。平均随访9个月,青年ACS患者发生心脏事件者10例(12.8%),其中心绞痛再入院6例(7.7%);老年ACS患者发生心脏事件者47例(27.5%),其中心绞痛再入院30例(17.5%),两组比较差异有显著性(P<0.05)。结论:ACS患者冠状动脉粥样硬化青年时期之前已经发生,ACS预后与冠脉病变程度和年龄呈正相关。 相似文献
129.
Å. Öst P. Lindström B. Christensson H. Gyllenhammar L. Engstedt 《European journal of haematology》1984,33(2):160-170
A consecutive series of patients (1978–1981) comprising all patients with acute leukaemia from a population of 475000 inhabitants was reviewed. Thus, 94 patients were diagnosed as having acute leukaemia. No patients were lost from follow-up. The incidence figures of ALL and AML differed significantly from those of Sweden as a whole. 9 patients were < 15 years old. The median age of adult patients was 64 years, 60.8% being ≥ 60 years old. Of adult patients with AML, 20% had a preleukaemic history (chronic myeloproliferative disorders, myelodysplastic syndromes and others). None of 6 patients with leukaemia as a metamorphosis of a chronic myeloproliferative disorder achieved a complete remission. The overall remission rate of the remaining adult patients was 25%. Treated patients, 15–39 years old, with AML without any preleukaemic history, had a complete remission rate of 80% compared to 12% for patients ≥ 60 years old with the same diagnosis. Of 60 patients with ‘primary’ AML, 14 were not treated, mainly because of advanced age and complicating diseases. Most of these patients died within a week of admission. 相似文献
130.
R. N. KALARIA ‡‡ P. G. GALLOWAY† G. PERRY‡ ‡‡ 《Neuropathology and applied neurobiology》1991,17(3):189-201
Amyloid P (AP) component is present in all types of systemic amyloid deposits. Recently, it has been shown to be also present in cerebral amyloid lesions of Alzheimer's disease (AD). In this study, we used immunocytochemical methods to extend these findings at the electron microscope level and characterize the spectrum of AP immunoreactivity in neurofibrillary pathology (NFP) of AD and other neurodegenerative disorders including Down's syndrome (DS), Creutzfeldt-Jakob, Parkinson's, Pick's and diffuse Lewy body diseases and progressive supranuclear palsy. In AD and DS, AP immunoreaction product was evident in all the classical amyloid lesions and NFP in a large sample of all cortical areas examined. The distribution and relative intensity of immunostaining was similar to that of thioflavin S staining in serial sections. In many cases, however, plaques and vessels stained by anti-AP serum were not apparent with thioflavin S. Serial sections immunostained with antiserum to amyloid A, C-reactive protein or to other proteins involved in systemic amyloidoses and the acute phase response showed no evidence of staining in any of the cerebral lesions. Electron microscopy confirmed that AP immunoreactivity was associated with the abnormal filaments characteristic of NFP as well as amyloid fibrils found in plaques and vessels showing congophilic amyloid angiopathy. Plaques of Creutzfeldt-Jakob disease, Pick bodies of Pick's disease, tangles and Lewy bodies in Parkinson's disease and a subpopulation of Lewy bodies in the diffuse Lewy body disease coexistent with AD were also stained. With the exception of vessels in two of the five cases, AP was not detected in age-matched controls. Our observations indicate AP to be a consistent feature of cerebral NFP and amyloid deposits. 相似文献