Screening of dystrophin gene deletions in Malaysian patients with Duchenne muscular dystrophy

Duchenne Muscular Dystrophy (DMD) is an X-linked recessive genetic disorder characterized by rapidly progressive muscle weakness. The disease is caused by deletion, duplication or point mutation of the dystrophin gene, located on the X chromosome (Xp21). Deletion accounts for 60% of the mutations within the 79 exons of the dystrophin gene. Seven exons (43, 44, 45, 46, 49, 50, and 51) were found to be most commonly deleted among the Asian patients. To detect the frequency of deletion of these 7 exons in Malaysian DMD patients, we carried out a molecular genetic analysis in 20 Malaysian DMD patients. The mean age of initial presentation was 60 months (SD 32 months, range 5-120 months). Fourteen patients were found to have deletion of at least one of the seven exons. The remaining six patients did not show any deletion on the tested exons. Deletions of exons 49, 50 and 51 were the most frequent (71.43%) and appear to be the hot spots in our cohort of patients.     

The clinical and genetic associations of anti-cyclic citrullinated peptide antibodies in psoriatic arthritis

OBJECTIVES: Antibodies recognizing a cyclic citrullinated peptide (anti-CCP) are highly specific for rheumatoid arthritis (RA) but their role in psoriatic arthritis (PsA) remains unclear. The aim of this study was therefore to investigate the prevalence of anti-CCP antibodies in PsA and assess their clinical and genetic associations. METHODS: One hundred and twenty-six patients with PsA, 40 patients with seropositive RA and 40 controls were tested for the presence of anti-CCP antibodies, rheumatoid factor (RF) and the HLA-DRB1 shared epitope. Clinical and radiological data were collected prospectively on all patients and compared between anti-CCP-positive and -negative patients. RESULTS: Seven (5.6%) patients with PsA were positive for anti-CCP antibodies compared with 0% of controls and 97% of patients with seropositive RA. The presence of anti-CCP antibodies in PsA was significantly associated with the HLA-DRB1 shared epitope (P<0.005), erosive disease (P<0.05), number of swollen joints (P<0.02) and DMARD use (P<0.05). CONCLUSIONS: Overall, the increased prevalence of anti-CCP antibodies in this PsA population failed to reach statistical significance. However, when present, they were a marker of disease severity and had RA-linked MHC class II associations. Further studies are needed in a larger population of patients with PsA and appropriate controls to confirm any true association that may be present.     

Pentoxifylline adjunct improves prognosis of human cerebral malaria in adults

Fifty-two adult patients with cerebral malaria were randomly categorized into two groups to receive either quinine dihydrochloride (Qn) alone or a combination of Qn and pentoxifylline (Px). Thirty-two of them received intravenous (i.v.) Qn (group I), and 20 patients (group II) received i.v. Qn along with parenteral Px support (10 mg/kg/day) for the initial 3 days. There was significant improvement in coma resolution time in group II (21.6 +/- 13.9 h) in comparison with group I (63.5 +/- 19.7 h) (P < 0.001), and mortality was 25% of patients in group I against 10% patients receiving Px adjunct (P > 0.05). Three days post-therapy, serum tumour necrosis factor-alpha (TNF-alpha) levels decreased significantly in patients on Px support (day 0 TNF = 415.62 +/- 477.80 pg/ml; day 3 TNF = 47.92 +/- 27.9 pg/ml; P = 0.0029). There was no significant change in TNF levels in those on quinine alone (day 0 TNF = 477.08 +/- 933.90 pg/ml; day 3 TNF = 589 +/- 602.3 pg/ml; P > 0.05). There were no serious side-effects necessitating withdrawal of patients receiving Px therapy.     

Endoscopic skull base training using 3D printed models with pre-existing pathology

European Archives of Oto-Rhino-Laryngology - Endoscopic base of skull surgery has been growing in acceptance in the recent past due to improvements in visualisation and micro instrumentation as...     

Salvage treatment of distant recurrent brain metastases with Gamma Knife surgery

Background

The aim of the study was to analyze the results following salvage Gamma Knife® surgery (GKS) for distant recurrent brain metastases in patients previously treated with GKS for brain metastases.

Methods

Survival time and freedom from new distant recurrences (DR) were studied in 251 patients treated with salvage GKS for brain metastases that had developed following a first GKS. The patients were followed prospectively and the results related to a number of patient parameters as well as the results following the first GKS.

Results

The median survival time was 9.6 months, and the median time of freedom from developing DR was 7.5 months after salvage GKS. The survival time was unrelated to age, gender, prior WBRT, and primary disease. It was significantly longer in patients with a single DR at salvage GKS as compared to those with multiple ones (16 versus 8.3 months). Patients with 2–4 DRs lived longer than those with >4 lesions, 10 versus 5.8 months.The survival was significantly longer following salvage GKS as compared to following the first GKS. The prognosis of a patient with DR may therefore be less ominous than previously assumed. A classification system for DRs based on their clinical impact and treatability is therefore suggested.

Conclusions

The longer survival time following salvage GKS as compared to following the first GKS suggests that many patients benefit from salvage GKS. A classification system of DR is suggested to estimate its clinical impact.

     

Adulticidal activity of Ageratum houstonianum Mill. (Asteraceae) leaf extracts against three vector mosquito species (Diptera: Culicidae)

ObjectiveTo determine the intrinsic toxicity of hexane, ethyl acetate and methanol crude extracts of Ageratum houstonianum leaves against adult Anopheles stephensi, Aedes aegypti and Culex quinquefasciatus mosquitoes.MethodsBioassay was performed in 2-day-old laboratory reared unfed adult female mosquitoes by topical application at concentrations of 0.01, 0.05, 0.10, 0.25 and 0.50 μg/mg female adult mosquito.ResultsAedes aegypti was found to be more susceptible to ethyl acetate and hexane extracts with LD₅₀ value of 0.10 μg/mg, and both Anopheles stephensi and Culex quinquefasciatus were susceptible to methanol extract with LD₅₀ values of 0.12 μg/mg female adult mosquito.ConclusionsThe results show promising adulticidal activity on topical application and further studies followed by in-depth laboratory and field bioassays are needed to screen, isolate and purify bioactive phytochemical constituents or compounds.     

The macroeconomic environment and sexual and reproductive health: a review of trends over the last 30 years

The social services provided in any country are determined by resource allocation. How money is spent, the way in which programmes are organised, and the services that are prioritised can have important implications for health, including the sexual and reproductive health of men and women. Choices in how resources are allocated are influenced by a number of factors. Covering the years from the late 1970s to the current time, this article reviews the contexts that have influenced the provision of sexual and reproductive health services and provides examples of instances where decisions about resource allocation are not evidence-based. The role of donors in determining how services are provided and their lack of accountability is discussed. We conclude that sexual and reproductive health and rights activists need to engage with and take into account the macroeconomic environment in their efforts to improve sexual and reproductive health outcomes.