Genotype/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene

X-linked Charcot-Marie-Tooth disease (CMTX) is a peripheral nerve disorder that has been linked to mutations in the connexin 32 gene (Cx32). These mutations have been shown to be genetically heterogeneous, though recurrences of specific mutations in apparently unrelated families have been seen. The majority of mutations have been shown to be missense, resulting in non-conservative amino acid changes. A few mutations resulting in a premature termination of protein translation, including both nonsense mutations as well as frameshifting microdeletions, have been documented. We would like to report a deletion mutation that appears to eliminate the entire coding sequence of the Cx32 gene, but which has been shown to segregate with a clinical phenotype not unlike that seen in individuals with a less severe alteration of the Cx32 gene. The causes at a cellular level of the CMTX phenotype are still not fully clear, though there has been speculation that these may involve a dominant negative effect where the mutant connexin 32 suppresses the function of other connexins. Studies of kindreds such as this, where in CMTX-affected males the Cx32 gene product is totally absent, will help us to better understand the molecular mechanisms underlying the clinical phenotype associated with this disorder. Received: 22 December 1997 / Accepted: 8 May 1998     

Actinomycosis of the Brain: Case Report and Review of the Literature

The available world literature (since Friedman''s and Levy''s comprehensive report in 1937) regarding actinomycosis of the central nervous system is reviewed. Only cases proved by culture were included in this analysis. A total of 17 cases was collected and an additional patient with this entity is described.The important differences between actinomycosis and nocardiosis are discussed. A definite diagnosis of actinomycosis was possible only when anaerobic cultures of cerebrospinal fluid or material obtained from a brain abscess yielded colonies of typical Actinomyces organisms. The characteristic result of infection of the brain by this fungus was abscess formation, and this occurred in all except one of the cases reviewed. Penicillin appears to be the drug of choice in treatment and, where possible, surgical excision of the cerebral abscess should be undertaken.     

Chronic wounds in Sierra Leone: Searching for Buruli ulcer,a NTD caused by Mycobacterium ulcerans,at Masanga Hospital

BackgroundChronic wounds pose a significant healthcare burden in low- and middle-income countries. Buruli ulcer (BU), caused by Mycobacterium ulcerans infection, causes wounds with high morbidity and financial burden. Although highly endemic in West and Central Africa, the presence of BU in Sierra Leone is not well described. This study aimed to confirm or exclude BU in suspected cases of chronic wounds presenting to Masanga Hospital, Sierra Leone.MethodologyDemographics, baseline clinical data, and quality of life scores were collected from patients with wounds suspected to be BU. Wound tissue samples were acquired and transported to the Swiss Tropical and Public Health Institute, Switzerland, for analysis to detect Mycobacterium ulcerans using qPCR, microscopic smear examination, and histopathology, as per World Health Organization (WHO) recommendations.FindingsTwenty-one participants with wounds suspected to be BU were enrolled over 4-weeks (Feb-March 2019). Participants were predominantly young working males (62% male, 38% female, mean 35yrs, 90% employed in an occupation or as a student) with large, single, ulcerating wounds (mean diameter 9.4cm, 86% single wound) exclusively of the lower limbs (60% foot, 40% lower leg) present for a mean 15 months. The majority reported frequent exposure to water outdoors (76%). Self-reports of over-the-counter antibiotic use prior to presentation was high (81%), as was history of trauma (38%) and surgical interventions prior to enrolment (48%). Regarding laboratory investigation, all samples were negative for BU by microscopy, histopathology, and qPCR. Histopathology analysis revealed heavy bacterial load in many of the samples. The study had excellent participant recruitment, however follow-up proved difficult.ConclusionsBU was not confirmed as a cause of chronic ulceration in our cohort of suspected cases, as judged by laboratory analysis according to WHO standards. This does not exclude the presence of BU in the region, and the definitive cause of these treatment-resistance chronic wounds is uncertain.     

Electron spin resonance spectrum of species “X” which may function as the primary electron acceptor in Photosystem I of green plant photosynthesis

Purified Photosystem I particles from spinach when reduced with 10 mM dithionite at pH 9 exhibited a 50% light reversible-ESR Signal 1 (P-700⁺) at about 10 K. It was possible to show by signal-averaging techniques that a light-reversible ESR spectrum concomitant with the reversible Signal 1 can be observed with approximate principal g factors at g = 2.07, g = 1.86 and g = 1.75.     

Population studies on a South African carrageenophyte: Iridaea capensis (Gigartinaceae,Rhodophyta)

An intertidal population of Iridaea capensis in the south-western Cape Province of South Africa has been studied in detail for a year. The species is generally restricted to sand-inundated rocky shores, which appears not to be the case for Iridaea species in the Pacific. In early winter (June) biomass, plant density and plant size were at a minimum. A small increase in these parameters occurred in August, but there was a massive increase in plant numbers and biomass in October. The largest plants were recorded in summer (February). The population was over 70% sporophytes in April, but switched to almost 80% gametophytes following heavy recruitment between August and October, and remained significantly gametophyte-dominated through April of the following year. Carrageenan levels were high (ca 42% of dry weight) in late winter-spring, and lowest (ca 30–35%) in summer-autumn. Strong offshore wind conditions in early summer caused a reduction in biomass, and it is hypothesized that the associated upwelling of nutrient rich water may be implicated in the lower carrageenan levels at this time.     

Within‐year variation in the vegetative spread of five temperate grasses

Questions: Do species planted outdoors in native soil differ in the timing of their period of vegetative spread during the growing season? Location: Cleish Hills, Fife, Scotland, UK. Methods: Patches (20 cm × 20 cm) of Agrostis capillaris, Festuca rubra, Holcus lanatus, Lolium perenne and Poa trivialis were arranged in plots so that every species patch had all the remaining species as neighbours. The plots were cut every 14 days at 3 cm and photographed monthly from above. The photographs of species boundaries were traced and digitised. Measurements were made on the digitised images of the distances each species spread and of the area occupied by each species. Results: Fitting some simple models to the data indicated firstly that species varied in their vegetative competitive ability, with A. capillaris and P. trivialis being the most and least competitive respectively, and secondly that the ability of a species to colonize can differ from its ability to resist colonization, the most discrepant species being H. lanatus. Our analysis also indicated statistically significant variation in the data over and above the simple models, providing evidence of additional, genuine, complexity in the seasonal patterns of spread. Conclusion: This study provides evidence to support the hypothesis that clonal grass species do not spread vegetatively at the same times within a growing season. Since sward height is known to affect species spread, there is some opportunity for the manipulation of species composition simply through temporal control of sward height.     

Determination of the number and location of the manganese binding sites of DNA quadruplexes in solution by EPR and NMR.

The paramagnetic metal ion Mn2+ has been used to probe the electrostatic potentials of a DNA quadruplex that has two quartets with an overall fold of the chair type. A quadruplex with a basket type structure has also been examined. The binding of the paramagnetic ion manganese to these quadruplex DNAs has been investigated by solution state electron paramagnetic resonance (EPR) and nuclear magnetic resonance (NMR) spectroscopies. The EPR results indicate that the DNA aptamer, d(GGTTGGTGTGGTTGG), binds two manganese ions and that the binding constants for each of these sites is approximately 10(5) M-1. The NMR results indicate that the binding sites of the manganese are in the narrow grooves of this quadruplex DNA. The binding sites of the DNA quadruplex formed by dimers of d(GGGGTTTTGGGG) which forms a basket structure are also in the narrow groove. These results indicate that the close approach of phosphates in the narrow minor grooves of the quadruplex structures provide strong binding sites for the manganese ions and that EPR and NMR monitoring of manganese binding can be used to distinguish between the different types of quadruplex structures.     

Operation Crayweed: Ecological and sociocultural aspects of restoring Sydney’s underwater forests

Operation Crayweed focuses on the restoration of underwater forests that disappeared from the coastline of Sydney, Australia’s largest city, 40 years previously. We show how a combination of science, hands‐on restoration, community engagement and art has helped the project to reach its goals as well as raise awareness about the importance of underwater kelp forests that are experiencing global decline.