Report on two patients with Costello syndrome and sialuria

We report on 2 unrelated patients with Costello syndrome. The first is a 5-year-old girl with “coarse” face, nasal papillomata, redundant skin of feet and hands, hyperextensible hand and finger joints, curly hair, feeding problems due to oral motor apraxia, growth and psychomotor retardation. The second is a 3-year-old boy with “coarse” face, loose skin on hands and feet, curly hair, oral motor apraxia, severe growth and psychomotor retardation. In both patients urine sialic acid levels were found to be repeatedly high. The meaning of this biochemical abnormality is discussed. © 1993 Wiley-Liss, Inc.     

Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B)

Sanfilippo B syndrome is caused by a deficiency of alpha-N- acetylglucosaminidase, a lysosomal enzyme involved in the degradation of heparan sulphate. Accumulation of the substrate in lysosomes results in degeneration of the central nervous system with progressive dementia often combined with hyperactivity and aggressive behaviour. In order to clone the deficient gene, we purified the enzyme from human placenta and obtained amino acid sequence information. Alignment of one of the CNBr generated internal peptides to sequence from the database revealed the chromosomal location of the gene in the 5' upstream flanking region of the gene for 17-beta-hydroxysteroid-dehydrogenase at 17q21.1. The available DNA sequence was used to clone the cDNA coding for alpha-N- acetylglucosaminidase and analyse its gene structure. The gene is fully contained in the 5' upstream flanking region of the gene for 17-beta- hydroxysteroid-dehydrogenase and interrupted by five introns. The cDNA clone has a length of 2575 bp and encodes a protein of 743 amino acids. Chinese hamster ovary cells transfected with the cDNA construct show alpha-N-acetylglucosaminidase activity about 17-fold over background. This will allow correction studies with NAG deficient Sanfilippo B cell lines and facilitate the development of enzyme replacement therapy for these patients.      

Respiratory mechanics and pleural remodelling in pleurodesis induced by barium sulphate

The aim of this study was to determine whether an intrapleural injection of barium sulphate would produce pleurodesis in rats. Additionally, respiratory mechanics and pleural remodelling were analysed. Single intrapleural injection of barium sulphate (100%) or saline was given to Wistar rats. Respiratory system, lung, and chest wall elastic, resistive and viscoelastic/inhomogeneous pressures were measured by the end-inflation occlusion method at 2 and 30 days after injection. The pleura were examined for gross and histopathological evidence of pleural inflammation and fibrosis, and the underlying lungs were also studied by morphometry. All pulmonary mechanical parameters increased at day 2, but were not different from control at 30 days after injection. Chest wall mechanical parameters did not change. Macroscopic evaluation demonstrated pleural adherence without haemothorax. Histopathologic analysis showed pleural inflammation and fibrosis. There was no alveolar inflammation or fibrosis in both groups. In conclusion, barium sulphate induced pleurodesis with either no changes in respiratory mechanics or lung lesion at day 30.     

Paramagnetic macrocyclic complexes as contrast agents for MR imaging: proton nuclear relaxation rate enhancement in aqueous solution and in rat tissues

Paramagnetic macrocyclic chelates show promise as magnetic resonance (MR) imaging contrast agents due to stability and relaxivity comparable to those of DTPA-type chelates. For the three copper and manganese macrocyclic complexes studied in aqueous solution, T1 and T2 relaxivities ranged from 0.14 to 5.88 mM-1sec-1 at 6.25 MHz. In rats, the intravenous administration of 16 mumol/kg of Mn(cyclam) caused the liver T1 relaxation rate to double at 15 minutes after injection. T1 measurements by pulsed MR imaging and manganese analyses on excised tissue showed that both relaxation rate (1/T1) and manganese content of liver and kidney increase linearly with the dosage of Mn(cyclam). The linear relationship between 1/T1 and manganese content can be considered an "in tissue" relaxivity plot for the agent. The resulting relaxivity is 54 mM-1sec-1 in liver, compared with 3.1 mM-1sec-1 in aqueous solution. Although this work is preliminary, the implication for medical MR imaging applications is that macrocyclic contrast agents can be effective at approximately one-tenth the current typical dose used for gadolinium DTPA.     

海南省大劣按蚊实验室自然交配的驯化研究

目的 建立实验室大劣按蚊自然交配繁殖种群,为同类研究提供依据。方法 将野外捕捉并在实验室人工交配繁殖至第61代的大劣按蚊,按不同雌雄比例先后顺序置于大、中、小三种不同型号的蚊笼中喂养、驯化、观察产卵情况并计算产卵数和孵化率。结果 在大、中、小蚊笼内的分别驯化至第15、10和18代时成蚊卵的孵化率各达到82％、83．4％和80．7％,成功建立小蚊笼自然交配的大劣按蚊种群。结论 经实验室驯化的大劣按蚊能够自然交配、产卵、繁殖,有助于建立实验室自然种群。     

甲状腺机能亢进症危险因素病例对照研究

目的 探讨各危险因素与甲亢的关系。方法 对三亚地区110例甲亢采用1：2配比的病例对照研究,资料处理采用条件Logistic回归分析.结果 甲亢发病与下列5因素关系密切：家庭年收入(OR=2．055)、食用碘盐(OR=2．133)、喜食海产品(OR=2．183)、感染(OR=2．382)、家庭生活事件(OR=3．017) 结论 家庭生活事件、感染、喜食海产品、食用碘盐、家庭年收入增高等是甲亢的危险因素。     

海南省性罪错妇女11年性病感染情况调查分析

目的 通过对11年来性罪错人员性病感染情况的调查分析,掌握性病在性罪错妇女中流行的特点,为政府部门对性病防治政策的制定提供科学依据。方法 对1990年元月至2000年12月海南省妇女收容教育所被收教的性罪错妇女进行性病检查,统计其各种性病的发病人数,然后进行分析。结果 11年中共收教4780人,其中感染淋病、非淋菌性尿道炎(宫颈炎)、尖锐湿疣、梅毒、生殖器疱疹、HIV共2967例,阳性率为62．07％,其中非淋菌性尿道炎(宫颈炎)1826例(38．20％)、淋病469例(9、81％)、梅毒414例(8．7％)、尖锐湿疣246例(5．14％)、生殖器疱疹11例(0．23％)、HIV阳性1例(0．02%)。结论 性罪错妇女六种性病的患病率很高,达62．07％,其中非淋菌性尿道炎(宫颈炎)为其主要病种,淋病的患病率逐年下降,梅毒的患病率逐年上升,尖锐湿疣基本稳定,其流行特点值得我们重视。