Congenital lumbar hernia in association with carpus equina varus.

A rare case of congenital lumbar hernia associated with carpus equina varus is described in a week old baby. The treatment is described with limited review of the literature.     

Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations

It has previously been shown that, in the heterozygous state, mutations in the SOX9 gene cause campomelic dysplasia (CD) and the often associated autosomal XY sex reversal. In 12 CD patients, 10 novel mutations and one recurrent mutation were characterized in one SOX9 allele each, and in one case, no mutation was found. Four missense mutations are all located within the high mobility group (HMG) domain. They either reduce or abolish the DNA-binding ability of the mutant SOX9 proteins. Among the five nonsense and three frameshift mutations identified, two leave the C-terminal transactivation (TA) domain encompassing residues 402-509 of SOX9 partly or almost completely intact. When tested in cell transfection experiments, the recurrent nonsense mutation Y440X, found in two patients who survived for four and more than 9 years, respectively, exhibits some residual transactivation ability. In contrast, a frameshift mutation extending the protein by 70 residues at codon 507, found in a patient who died shortly after birth, showed no transactivation. This is apparently due to instability of the mutant SOX9 protein as demonstrated by Western blotting. Amino acid substitutions and nonsense mutations are found in patients with and without XY sex reversal, indicating that sex reversal in CD is subject to variable penetrance. Finally, none of 18 female patients with XY gonadal dysgenesis (Swyer syndrome) showed an altered SOX9 banding pattern in SSCP assays, providing evidence that SOX9 mutations do not usually result in XY sex reversal without skeletal malformations.      

EPR技术研究枸杞多糖清除·OH自由基作用

目的:探讨枸杞多糖清除自由基的作用.方法:采用电子顺磁共振技术(EPR)检测不同浓度枸杞多糖对·OH自由基的清除作用.结果:枸杞多糖清除·OH自由基的能力在0.25 mg/ml为18.64%,在1.0 mg/ml为87.29%,再增大浓度时清除能力呈下降趋势.结论:枸杞多糖低浓度时具显著清除·OH自由基作用,但高浓度时其清除能力却下降.     

Waterborne parasites and physico-chemical assessment of selected lakes in Malaysia

The objective of this study was to assess the physico-chemical parameters and waterborne parasites in selected recreational lakes from Malaysia. Samples were collected from seven stations of Recreational Lake A (RL-A) and six stations of Recreational Lake B (RL-B). The samples were processed to detect the presence of Giardia spp. and Cryptosporidium spp. using immunomagnetic separation kit, helminth eggs or ova by bright field microscopy and Acanthamoeba spp. by cultivation in non-nutrient agar. Chemical parameters such as ammonia, chlorine, fluoride, nitrate and nitrite and physical parameters such as dissolved oxygen, electrical conductivity, pH, salinity, temperature and total dissolved solid were also measured. Both lakes were freshwater with salinity ranging from 0.05 to 0.09 ppt. Most stations of these lakes were contaminated with Cryptosporidium spp., Giardia spp., Ascaris spp. and hookworm. Schistosoma spp. was found in RL-B only, while Acanthamoeba spp. was found in all stations. Of all sampling sites, station 5 of RL-B is the most contaminated. Linear regression and correlation analysis revealed that Giardia spp. and Schistosoma spp. showed a significant negative correlation with turbidity (p?<?0.01). Based on the preliminary data obtained, it is clearly shown that there is a necessity to implement the detection of waterborne parasites and physico-chemical analysis in Malaysia. Future work on heavy metals (chromium, copper, mercury and zinc) is recommended to enhance the overall water quality monitoring and to take appropriate safety measures to ensure maintenance of good water standards.     

Routine Trans-Abdominal Ultrasonography Before Laparoscopic Sleeve Gastrectomy: the Findings

Although some bariatric guidelines reserve pre-operative trans-abdominal ultrasonography screening for symptomatic patients and those with elevated liver enzymes, there has yet to exist a general consensus regarding this issue. Some centers still employ its use as a vital step in the workup of the bariatric patient. This study aims to observe the prevalent findings on routine pre-operative trans-abdominal ultrasonography when used as a screening tool prior to laparoscopic sleeve gastrectomy (LSG). All patients undergoing LSG were screened pre-operatively with trans-abdominal ultrasonography. A retrospective study was done of the pre-operative ultrasonography results of patients who underwent LSG at Amiri Hospital from 2008 to 2012. A total of 747 patients were included in the study, with a median age of 36 (15–68). Five hundred ninety (79.0 %) patients were females while 157 (21.0 %) were males, with an overall median body mass index (BMI) of 45 (30–90). Two hundred forty patients (32.1 %) had normal pre-operative ultrasonography results, 83 (11.1 %) were found to have gallstones, 427 (57.2 %) had fatty liver, and 55 (7.4 %) had other pathologies. There was no statistically significant association between BMI and gallstones (p?=?0.545) and BMI and fatty liver (p?=?0.418). Trans-abdominal ultrasonography screening prior to LSG revealed a wide range of findings but does not add significant information to the pre-operative workup of patients undergoing the procedure and should be reserved for indicated patients.