A dominantly inherited malformation syndrome with short stature,upper limb anomaly,minor craniofacial anomalies,and absence of TBX5 mutations: Report of a Thai family

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.     

A case of unilateral opercular syndrome associated with a subcortical lesion

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.     

X chromosome instability associated with familial Turner syndrome

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.     

Anorectal function in the solitary rectal ulcer syndrome

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.     

Enucleation combined with orbital implants for malignant melanoma of the uvea

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.     

Acute leukaemia in a defined geographic area – Incidence,clinical history and prognosis

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.     

Widespread serum amyloid P immunoreactivity in cortical amyloid deposits and the neurofibrillary pathology of Alzheimer's disease and other degenerative disorders

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.     

儿童难治性肾病综合征的探讨95例临床分析

本文对95例肾病综合征进行分析,探讨了性别、年龄、发病迁延时间、浮肿、蛋白尿、血尿、血压、尿素氮、血浆蛋白、血浆胆固醇、免疫球蛋白、补体C_3与激素反应及分型的关系。认为下列综合分析可做为判定难治性肾病综合征的参考。难治性肾病多分布在7岁以上,激素治疗4～8周血浆蛋白尚未恢复,尿镜检反复出现红细胞及颗粒管型,血清r—球蛋白不低,而补体C_3降低,提示难治性肾病。各种感染常常是造成肾病综合心难以控制,甚至死亡的重要因素。     

泰安市流行性出血热(EHF)发病季节和人群分布

在这篇文章中,应用圆形分布法计算了泰安市1984—1985两年流行出血热的发病平均日期,分别为1984年11月5号和1985年11月11号,两年合计的平均发病日期为11月9号。另外,还分析了发病的年龄和职业。这将为预防工作提供准确的科学数据。     

年龄与代谢综合征的关系及防治对策

目的了解中老年人群年龄与多种代谢异常的聚集状况,为心脑血管疾病的一级预防提供依据。方法对744例中老年人按不同年龄分为5组,分析代谢综合征(MS)各项指标的变化规律及特点。结果年龄与肥胖呈明显负相关(P<0.001),与高血糖、高血压及冠心病、脑卒中呈明显正相关(P<0.05或0.001);40～60岁组MS的患病率基本一致,约为30%,70岁以后明显增加,到80岁时可高达51%(P<0.05或0.01);MS与冠心病和脑卒中的患病率均明显相关(P<0.05),随着临床指标个数的增加,冠心病的患病率增加了6.8%,脑卒中的患病率增加了7.44%。结论中年人群超重或肥胖的患病率明显高于老年组,应引起足够重视;随着年龄增长,代谢异常指标数目增多,尤其是≥3项指标的人数明显增加;MS作为心血管危险因素直接导致冠心病、脑卒中发病率增加。针对中老年人群MS的特点,制定相应的干预措施十分重要。