Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease

Recently, a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72 was reported as the cause of chromosome 9p21‐linked frontotemporal dementia‐amyotrophic lateral sclerosis (FTD‐ALS). We here report the prevalence of the expansion in a hospital‐based cohort and associated clinical features indicating a wider clinical spectrum of C9ORF72 disease than previously described. We studied 280 patients previously screened for mutations in genes involved in early onset autosomal dominant inherited dementia disorders. A repeat‐primed polymerase chain reaction amplification assay was used to identify pathogenic GGGGCC expansions. As a potential modifier, confirmed cases were further investigated for abnormal CAG expansions in ATXN2. A pathogenic GGGGCC expansion was identified in a total of 14 probands. Three of these presented with atypical clinical features and were previously diagnosed with clinical olivopontocerebellar degeneration (OPCD), atypical Parkinsonian syndrome (APS) and a corticobasal syndrome (CBS). Further, the pathogenic expansion was identified in six FTD patients, four patients with FTD‐ALS and one ALS patient. All confirmed cases had normal ATXN2 repeat sizes. Our study widens the clinical spectrum of C9ORF72related disease and confirms the hexanucleotide expansion as a prevalent cause of FTD‐ALS disorders. There was no indication of a modifying effect of the ATXN2 gene.     

Residual soil phosphorus as the missing piece in the global phosphorus crisis puzzle

Phosphorus (P) is a finite and dwindling resource. Debate focuses on current production and use of phosphate rock rather than on the amounts of P required in the future to feed the world. We applied a two-pool soil P model to reproduce historical continental crop P uptake as a function of P inputs from fertilizer and manure and to estimate P requirements for crop production in 2050. The key feature is the consideration of the role of residual soil P in crop production. Model simulations closely fit historical P uptake for all continents. Cumulative inputs of P fertilizer and manure for the period 1965-2007 in Europe (1,115 kg . ha(-1) of cropland) grossly exceeded the cumulative P uptake by crops (360 kg ha(-1)). Since the 1980s in much of Europe, P application rates have been reduced, and uptake continues to increase due to the supply of plant-available P from residual soil P pool. We estimate that between 2008 and 2050 a global cumulative P application of 700-790 kg . ha(-1) of cropland (in total 1,070-1,200 teragrams P) is required to achieve crop production according to the various Millennium Ecosystem Assessment scenarios [Alcamo J, Van Vuuren D, Cramer W (2006) Ecosystems and Human Well-Being: Scenarios, Vol 2, pp 279-354]. We estimate that average global P fertilizer use must change from the current 17.8 to 16.8-20.8 teragrams per year in 2050, which is up to 50% less than other estimates in the literature that ignore the role of residual soil P.     

Tracheal intubation with a camera embedded in the tube tip (Vivasight™)

We studied tracheal intubation in manikins and patients with a camera embedded in the tip of the tracheal tube (Vivasight^?). Four people in two teams and two individuals attempted intubation of a manikin through an i‐gel^? 10 times each. The tracheas of 12 patients with a Mallampati grade of 1 were intubated with a Vivasight tracheal tube through a Berman airway, passed over a Frova^? introducer. All 60 manikin intubations were successful, taking a mean (SD) time of 1.4 (0.5) s. The fastest intubation was performed in 0.5 s. All 12 participants’ tracheas were successfully intubated in a median (IQR [range]) time of 90 (70–120 [50–210]) s. Seven participants complained of a sore throat, comparable with earlier findings for standard laryngoscopy and intubation: five mild; one moderate; and one severe. Tracheal intubation with the Vivasight through the i‐gel or Berman airway is an alternative to existing techniques, against which it should be compared in randomised controlled trials in human participants. It has potential as a fast airway rescue technique.     

The diagnosis and management of temporal arteritis

Temporal arteritis (TA), or giant cell arteritis, is a systemic autoimmune vasculitis affecting patients over 50 years of age. It can cause rapid, irreversible bilateral vision loss in older adults and is therefore considered an ophthalmological emergency. Many of the symptoms and signs of TA can be vague, non-specific and gradual in onset, often leading to a delayed or inaccurate diagnosis. As such, it is important for a wide variety of primary optometrists and health practitioners to maintain a robust understanding of the clinical presentation, key investigations and time-sensitive management of this disease, as early initiation of treatment for TA can be vision- and life-saving.