Isolation and characterization of 11 microsatellite loci in the short-range endemic shrub Grevillea georgeana McGill (Proteaceae)

We developed 11 nuclear microsatellite markers for the rare and poorly known, Western Australian species Grevillea georgeana. This species is restricted to banded iron formations (BIFs) located 500 km north-east of Perth, Western Australia. G. georgeana is part of a broader study looking at phylogeographic patterns present in short-range BIF endemics of this region. A total of nine trinucleotide, one tetranucleotide and one pentanucleotide repeat loci were developed and tested on 24 individuals from one population. The number of alleles per locus ranged from two to seven and observed heterozygosity ranged from 0.095 to 0.792. Null alleles were estimated to occur at two loci.     

Characterisation of microsatellite DNA markers for Grevillea globosa C. A. Gardner

A genomic library was constructed and 14 novel polymorphic di- and tri-nucleotide nuclear microsatellite markers were developed for Grevillea globosa, an endemic shrub of southwest Western Australia. Populations are patchily distributed and population genetic structure is being investigated to inform appropriate seed collection and restoration strategies. Diversity in a selected population was high, with the number of alleles per locus ranging from 3 to 13 and expected and observed heterozygosities averaging 0.693 and 0.799 respectively. All loci showed independent inheritance and there was no evidence of possible null alleles.     

Impact of therapeutic regimen and clinical presentation on overall survival in CNS lymphoma

Background

The authors present a retrospective analysis of 45 patients who underwent treatment of CNS lymphoma (both primary and secondary) at a single institution between 2005 and 2012.

Methods

This study involves 21 female and 24 male patients with a mean age of 59.2 years. All medical records and pathology reports were reviewed for each patient. Univariate and multivariate analyses of overall survival were performed.

Results

Presentation with altered mental status was a significant risk factor for worse overall survival. An HIV infection, deep lesion location, and age over 60 did not impact survival. A survival benefit was demonstrated with the use of systemic therapy, specifically rituximab, and radiation. The CNS Lymphoma Score was derived from this cohort, which proved a powerful predictive tool for overall survival. The surgical complication rate in this series was 17.8 %.

Conclusions

This study highlights the prognostic importance of presenting mental status on outcomes in CNS lymphoma and demonstrates a summative benefit of rituximab and whole brain radiation therapy. Considering these factors together provides an easily applicable and meaningful stratification for this patient population. The surgical complication rate in this patient population is not negligible. The high percentage of wound-related surgical complications suggests the need for a waiting period between surgery and initiation of chemotherapy to allow for wound healing.     

UBQLN2 mutations are not a frequent cause of amyotrophic lateral sclerosis in Ireland

Mutations in UBQLN2 have been shown to be a cause of dominant X-linked amyotrophic lateral sclerosis (ALS). Occurrences of mutations in this gene vary across ALS populations. We screened UBQLN2 for mutations in a final cohort of 150 Irish ALS patients. Individuals who were from families with male-to-male transmission or who carried pathogenic hexanucleotide repeat expansions in C9orf72 were excluded. Apart from common synonymous variation, no sequence variants in UBQLN2 were observed. Mutations in UBQLN2 are therefore not a frequent cause of ALS in the Irish population.     

Efficacy of red and infrared lasers in treatment of temporomandibular disorders — a double-blind,randomized, parallel clinical trial

Aim:

Low-level laser therapy has still not been well established, and it is important to define a standardized protocol for the treatment of temporomandibular disorders (TMDs) using low level laser. There is no consensus on controlled clinical trials concerning the best option for laser therapy with regard to wavelength. The aim of this study was to evaluate the efficacy of red and infrared laser therapy in patients with TMD, using a randomized parallel-group double-blind trial.

Methodology:

Each hemiface of 19 subjects was randomized to receive intervention, in a total of 116 sensitive points. Pain was measured at baseline and time intervals of 24 hours, 30 days, 90 days, and 180 days after treatment. Irradiation of 4 J/cm² in the temporomandibular joints and 8 J/cm² in the muscles was used in three sessions.

Results:

Both treatments had statistically significant results (P<0·001); there was statistical difference between them at 180 days in favor of the infrared laser (P?=?0·039). There was improvement in 24 hours, which extended up to 180 days in both groups.

Conclusion:

Both lasers are effective in the treatment and remission of TMD symptoms.     

Multigeneration maternal transmission in Italian families with neural tube defects

Periconceptional vitamin supplementation with folate prevents about three-quarters of expected cases of neural tube defects (NTDs) in clinical trials. However, vitamin action may be regulated at the level of the gene, and individual susceptibility to environmental agents, including dietary components, also may be under genetic control. We investigated the presence of familial factors in a retrospective case control study of neural tube defects in Genoa, Italy. Cases included all patients treated at a single pediatric neurosurgical service. Controls matched on age and sex came from the same hospital. We found strong evidence for the contribution of genetic factors in this study. There was an excess risk of 14 for the occurrence of NTDs in first-degree relatives compared to controls (P < .0005). There was no difference in sex ratio in any group of relatives, but maternal grandparents of children with a high spinal lesion had 14% fewer offspring than paternal grandparents (P < .005), possibly because of excess miscarriages. Our study is the first to show complex patterns of inheritance in spina bifida families affecting three generations in one clinical subgroup and preferentially on the mother's side. These results support a role for genomic imprinting and highlight the value of multidisciplinary epidemiologic and clinical studies that include multiple generations. New studies incorporating dietary and genetic approaches will help clarify and extend these findings. © 1996 Wiley-Liss, Inc.