Anthropometry in the Cri du Chat syndrome

Anthropometric and cranial X-ray measurements of 35 individuals with a 5p- karyotype showed a general growth retardation. Height, weight, circumference of the thorax, pelvic breadth, and the size of the skull, face, hands and feet were all subnormal. Only the inner canthal distance was moderately increased, especially in young individuals, but there was no true hypertelorism. The palate was not high-arched. Large and small terminal deletions produced much the same anthropometric features; and the proband's sex did not have a major influence. Age variations within parameters examined followed the developmental pattern of normal individuals. A certain phenotypical variation in the Cri du Chat syndrome may therefore be attributed to normal changes or to intrapersonal conditions.     

应用MLPA技术进行3例猫叫综合征的分子遗传学分析

目的通过应用多重连接依赖式探针扩增（MLPA）技术对3例猫叫综合征（CDCS,5p缺失综合征）进行分析,旨在探索可快速诊断CDCS的分子遗传学方法。方法对3个CDCS患者及其父母、患者1的异卵双生之姐姐,进行MLPA分析,检测CDCS关键区域5p15．33：包括hTERT基因在内的9个位点的基因拷贝数的变化;同时,对相应标本进行染色体G-显带核型分析。结果在接到标本24—48h,MLPA示：3例患儿均存在CDCS关键区域5p15．33包含hTERT在内的基因缺失,其父母及患者1异卵双生之姐姐未见缺失。7—10天后G显带染色体核型分析示：患儿2、3为单纯5号短臂（5p）末端缺失,其父母正常;患儿1病例在国内尚属少见,核型为：45,XY,-22,-5p,4-der（5）t（5;22）,携带了一条源于5p和22p易位而来衍生的5号染色体,其父母及异卵双生之姐姐均正常。MLPA与核型分析结果-致：3例患儿均为CDCS患者。结论MLPA是-种可快速诊断CDCS的分子遗传学方法,具有临床应用价值。     

微阵列比较基因组杂交技术分析一例猫叫综合征患儿的基因组拷贝数变异

目的 对1例猫叫综合征患儿进行基因组拷贝数分析,寻找其致病原因.方法 对患儿外周血进行常规G显带分析,应用微阵列比较基因组杂交技术进行全基因组扫描,并应用荧光原位杂交技术对异常拷贝数区域进行验证.结果 患儿染色体核型为46,XY,der(5)(p?).微阵列比较基因组杂交显示其在5p14.2-p15.3处存在23.263Mb的片段缺失,12号染色体12p31区域存在14.602 Mb的片段重复.重复片段连接至5p14.2处,形成5号衍生染色体,即arr cgh 5p15.3p14.2(PLEKHG4B→CDH12)×1 pat,12p13.33p13.1(IQSEC3→GUC Y2C)× 3 pat.荧光原位杂交证实患儿存在5p末端缺失及12p末端重复.结论 5号染色体不平衡易位导致患儿5p末端缺失可能是患儿的病因.微阵列比较基因组杂交技术具有高分辨、高通量和高准确性的优点,适用于全基因组拷贝变异分析.     

The stability of events in the natural history of neoplasia.

Previous studies on the natural history of neoplasia, utilizing mouse skin as a model, have demonstrated that the process of epidermal carcinogenesis may be separated into at least two different phases. The first of these, termed "initiation," is essentially irreversible; the second phase, that of promotion, may be modulated or reversed by a variety of environmental conditions. More recently, similar stages have been demonstrated for other organ systems during carcinogenesis, in particular that of murine liver. At the same time, investigations of a variety of systems including those in plants, amphibians, and, most recently, in mammals have demonstrated that the initiation process of neoplasia may not be as irreversible as previously considered, but in several of these systems, including those in plants and in the mouse teratoma, the neoplastic process appears to be reversible from its initial stages under appropriate conditions. A proposed scheme is presented which takes into account the reversibility of the process of initiation in the natural history of neoplasia.     

The natural history of sclerosteosis

Sclerosteosis (SCL) is a severe, progressive, autosomal-recessive craniotubular hyperostosis (MIM 269500). The determinant gene (SOST) has been isolated, and genotype-phenotype correlations, as well as the elucidation of pathogenetic mechanisms, are dependent upon the documentation of the natural history of the condition. For this reason, the course and complications in 63 affected individuals in South Africa, seen over a 38-year period, have been analyzed. Thirty-four of these persons died during the course of the survey, 24 from complications related to elevation of intracranial pressure as a result of calvarial overgrowth. The mean age of death in this group of individuals was 33 years, with an even gender distribution. Facial palsy and deafness, as a result of cranial nerve entrapment, developed in childhood in 52 (82%) affected persons. Mandibular overgrowth was present in 46 (73%) adults and syndactyly in 48 (76%). In South Africa in 2002, 29 affected persons were alive, 10 being < or =20 years of age. It is evident that sclerosteosis is a severe disorder which places a considerable burden upon affected individuals and their families.     

The natural history of asthma

Asthma begins most often in infants as wheezing with respiratory infections. If these episodes are mild and infrequent, asthma does not usually persist into the school years. However, if they are more frequent and severe, the asthma is likely to persist. After infancy, incidence falls and continues at about 100/100,000 for the rest of the lifespan. Allergic asthma develops most often in the second decade of life and frequently persists into adult years, but young patients with allergic asthma often enjoy a transient or even a permanent remission. More severe disease and continued allergen exposure cause persistence. Some patients with occupational asthma continue to have asthma long after exposure ceases. Asthma beginning after the fourth decade is usually intrinsic and may include the aspirin triad. Its severity tends to increase with time. Many middle-aged and elderly adults have a persistent decline in lung function that is retarded but not completely prevented by aerosol glucocorticoids. This loss of lung function is often the result of coexisting lung diseases, particularly bronchiectasis and COPD. Patients with asthma have the same overall rate and age of death as the general population, but are more likely to die of lung diseases, including cancer.     

The natural history of somatization in primary care.

BACKGROUND: Somatization is often regarded as a chronic disorder. However, empirical studies to support this view and to determine its natural history in primary care are lacking. This paper provides data on the incidence and persistence of current somatization syndrome in a large cross-national sample drawn from 15 sites in 14 countries. METHODS: After screening with the General Health Questionnaire, a stratified sample of 5438 primary care patients was interviewed with the Composite International Diagnostic Interview and evaluated for physical health status, self-rated overall health and for occupational disability. Twelve months later, 3204 of the patients completed follow-up interviews. RESULTS: Over a 12-month period, an abridged form of somatization defined as four current symptoms in males and six in females was persistent in 45.9% of the patients. Persistence of syndrome was related to age and to subjective indices of psychological distress at baseline. Persistence was unrelated to depression. The 12-month incidence of the abridged somatization syndrome was 7.1% (95% CI, 6.1-8.3%). Individuals with depression at baseline and those with poor view of their health were more likely to develop new episodes of somatization 12-months later. CONCLUSION: Somatization syndrome showed considerable change over time. Persistence and onset of somatization were related to both level of psychopathology and health beliefs.