IGF-1在先天性肥厚性幽门狭窄中的表达

目的研究细胞因子IGF-1在先天性肥厚性幽门狭窄中的表达。方法应用RT-PCR方法,对16例先天性肥厚性幽门狭窄病例的幽门肌组织及相对应的胃壁肌肉组织的IGF-1mRNA表达水平进行半定量检测。结果幽门肌组织中IGF-1mRNA的水平为0.6858±0.1639,高于胃壁肌肉组织的0.4063±0.0935,差别有统计学意义(P<0.001)。结论先天性肥厚性幽门狭窄患儿幽门肌中IGF-1mRNA表达增加,可能在幽门肌肥厚的过程中起了一定的作用。     

A 26-month-old child with Marden-Walker syndrome and pyloric stenosis

We recently examined a 26-month-old boy with abnormal face, blepharophimosis, hypertelorism, apparently low-set ears, micrognathia, arachnodactyly, talipes equinovarus, and joint contractures. Subsequently he manifested failure to thrive, respiratory infections, and developmental delay. These congenital anomalies and associated findings are consistent with a diagnosis of the Marden-Walker syndrome. He also had mild pyloric stenosis and duodenal bands, not previously reported in this syndrome. This syndrome appears to be an autosomal recessive trait in some families. A summary of findings of the 16 previous published patients is presented.     

Some epidemiological aspects of pyloric stenosis in British Columbia

The records of an ongoing Health Surveillance Registry that utilizes multiple sources of ascertainment were used to study the incidence rate of infantile hypertrophic pyloric stenosis (IHPS) in liveborn children in British Columbia during the period 1966–1977 inclusive. The incidence was 4.6 males/1,000 livebirths and 1.2 females/1,000 livebirths, giving a male to female ratio of 3.1 to 1. No significant overall incidence variations with time could be shown during the study period. There was suggestive evidence of independent sex-incidence variation in different geographical regions, which clearly warrants further investigation.     

Recurrence risks in complex inheritance with special regard to pyloric stenosis.

A large body of data on segregating families is used to generate specific recurrence risks conditional on sex and birth order for the best-fitting model of polygenes plus maternal effect. The method is general for diseases of complex inheritance, and lies within the competence of any serious genetic clinic. The question of whether consultees demand as much specificity should be subordinate to the question of whether counsellors are justified in providing less.     

Serotoninergic system in the development of pyloric stenosis and pancreatitis

Pyloric stenosis and pancreatitis were simulated before and after administration of serotonin and spiperone (5-HT₂ receptor blocker). Activation of the serotoninergic system prevented the development of pancreatitis, but led to more severe course of pyloric stenosis. Translated from Byulleten' Eksperimental'noi Biologii i Meditsiny, Vol. 146, No. 8, pp. 226–232, August, 2008     

Two brothers with an unbalanced 8;17 translocation and infantile pyloric stenosis

Two half-brothers are described who had developmental delay and minor dysmorphic features, both of whom had operative treatment for pyloric stenosis. They had identical unbalanced karyotypes: 46,XY,-17,+der(17)t(8;17) (q24;q25). This was inherited from their mother who had the balanced form of the translocation. She was of normal intelligence and had no history of pyloric stenosis herself or in her extended family. It is suggested that the unbalanced chromosomal rearrangement could have been associated with the development of pyloric stenosis in these two brothers.     

The natural history of patients with carotid stenosis

Atherosclerosis is a systemic disease affecting the circulatory system throughout the body. Thus, patients with atherosclerosis of the carotid arteries are not only at risk of stroke but also of other manifestations of the disease, i.e. vascular death, myocardial infarction etc. So far, intervention trials evaluating the effect of treatment of this patient group, i.e. by surgical removal of the carotid lesion, has focussed on degree of stenosis of the lesion. However, many other factors may be of importance: local factors of the lesion (morphology, degree of stenosis), hemodynamic factors (collateral compensation) and systemic factors (clinical symptoms, accompanying diseases, risk factor control). Recent findings suggest that plaque morphology (composition and structure) may be of greater importance than the degree of stenosis and it may be speculated if current indications for carotid endarterectomy are optimal.