Biodegradable stents for caustic esophageal strictures: a new therapeutic approach.

The treatment of caustic esophageal strictures is a challenging topic. Although traditional therapies have limited efficacy, most of these patients eventually require surgery. Biodegradable (BD) stents are newly designed stents for benign conditions. This is a retrospective case series of seven patients with caustic esophageal stricture. BD esophageal stents were inserted for palliation of dysphagia. The position of the stent was checked at 1, 4, 8, 12 16, 20, and 24 weeks and at the end of follow-up period. The follow-up period was 60 ± 23 (36-102) weeks. Complete dissolution of the stent occurred at 16 ± 4 (12-20) weeks. Three patients had partial/complete relief of dysphagia. The remaining four patients experienced tissue hyperplasia at the edges of the stent and required serial dilations. At the end of follow-up, all patients had partial or complete relief of dysphagia. Although BD stents have some efficiency, tissue hyperplasia is the main limiting factor. Further randomized trials are needed to determine efficiency of BD stents for caustic damage.

A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D.

UNLABELLED: A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D: Mucopolysaccharidosis type IIID (MIM 252940) is the least common form of the four subtypes of Sanfilippo syndrome. It is an autosomal recessive lysosomal disorder caused by a deficiency of the N-acetylglucosamine-6-sulphatase (GlcNAc-6S sulphatase, GNS), a hydrolase, which is one of the enzymes involved in heparan sulfate catabolism leading to lysosomal storage. The clinical features of this disorder are progressive neurodegeneration with relatively mild somatic symptoms. Twenty patients have been described in the literature and only seven causative mutations in the GNS gene encoding GlcNAc-6S sulphatase have been reported to date. We present the clinical and molecular results of a newly diagnosed Turkish patient with MPS IIID. We identified the novel homozygous single base pair insertion, c.1226GinsG, which leads to a frame-shift and a premature truncation of the GNS protein (p.R409Rfs21X). CONCLUSION: This novel mutation provides further evidence that loss-of-function is the underlying pathophysiological mechanism of this rare phenotype.

Late diagnosis of foreign body aspiration in children with chronic respiratory symptoms.

BACKGROUND: Children with undiagnosed and retained foreign bodies (FBs) may present with persistent respiratory symptoms. Delayed diagnosis is an important problem in developing countries and several factors affect the delay. OBJECTIVES: To investigate, the incidence of clinically unsuspected foreign body aspiration (FBA) in our flexible bronchoscopy procedures, the causes resulting in late diagnosis of FBA, and the incidence of the complications of FBA according to elapsed time between aspiration and diagnosis. METHODS: We reviewed the records of all the patients who underwent flexible bronchoscopy between 1997 and 2004 in our clinic. Patients with FBA were identified and their medical records were reviewed. RESULTS: During the study period, 654 children underwent flexible bronchoscopy; 32 cases (4.8%) of FBA were identified. Median age of patients was 29.5 months at presentation with a median symptomatic period of 3 months. None of the patients had a history of FBA. The most common misdiagnosis was bronchitis. Flexible bronchoscopy was performed to these patients within 1 week following presentation. In 87% of the patients (n=28), FBs were in organic nature. Patients were followed up for 21.0 months after removal of the FBs. Fifty-three percent (n=17) of the patients had a complete remission after bronchoscopic removal of the FBs. However, nine (28.8%) patients had chronic respiratory problems and six patients (18.8%) developed bronchiectasis. CONCLUSIONS: Atypical or prolonged respiratory symptoms should alert the physician and clinical and radiological findings should be carefully evaluated for a possible FBA. Delay in diagnosis and treatment of FBA should be avoided to prevent complications.

Reduction of oxidative changes in human spermatozoa by exogenous gangliosides.

The effect of exogenous gangliosides, the sialic acid-containing glycosphingolipids, on oxidative changes in human spermatozoa was investigated. The incorporation of disialogangliosides or trisialogangliosides (GD1b and GT1b, respectively) into the iron/ascorbate promoter system for induction of lipid peroxidation decreased the release of malondialdehyde (MDA) from peroxidizing spermatozoa. The application of monosialogangliosides and disialogangliosides (GM1 and GD1a, respectively) did not have any effect under identical experimental conditions. GT1b, at a micromolar concentration, significantly inhibited the production of MDA, a breakdown product of lipid peroxide decomposition in spermatozoa of normozoospermic infertile men (P < 0.001; n = 51). An enhanced generation of MDA exhibited by the sperm population from the low-density Percoll fraction containing defective and/or immature spermatozoa was significantly reduced in the presence of GT1b. These results and the experiments on the influence of iron-chelating agent ethylenediamine tetraacetic acid (EDTA) as well as ferrous ion concentration itself on lipid peroxidation support the hypothesis that the protective effect of ganglioside against MDA generation could be the result of its chelating activity. Furthermore, superoxide anion release of phorbol myristate acetate-stimulated spermatozoa was significantly reduced in the presence of 50 and 100 micromol l(-1) GD1b (P < 0.05) and GT1b (P < 0.005). The inhibitory effect of 100 micromol l(-1) GT1b on spermatozoa from infertile normozoospermic men was statistically significant (P < 0.001; n = 21) and did not depend on the initial superoxide anion production. In conclusion, the protective action of GD1b and GT1b could be related to both scavenging of free radicals and metal-chelating properties, which might have relevance in the protection against oxidation-induced processes in human spermatozoa.

Glycaemic index of different kinds of carbohydrates in type 2 diabetes.

An adequate diet provides good metabolic control in diabetics. Since 1981 when Jenkins showed that complex carbohydrates are digested more slowly and raise blood glucose less than simple sugars, many studies have been performed in this field. In this study, seven kinds of carbohydrate-rich food were compared with glucose in 52 Type 2 diabetic patients and 31 normal volunteers. The subject consumed either macaroni, white rice, potatoes, tarhana soup (tarhana includes wheat flour, yoghurt, tomato and green pepper), noodle soup, white or whole wheat bread, or glucose at one-week intervals after an overnight fast. The glycaemic index (GI) of each food was calculated from the area under its glycaemic response curve (AUC) expressed as a percentage of the mean response to glucose. The results showed that the foods ranked from the highest to the lowest GI as follows: white bread; whole wheat bread; macaroni; tarhana soup; white rice; potatoes; noodle soup.