Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance

The X-linked dominant form of Charcot-Marie-Tooth disease (CMTX) is associated with mutations in a gene coding for the gap-junction protein connexin 32 (Cx32). We screened 32 CMT families with a pedigree pattern suggestive of X-linked inheritance for the presence of mutations in the coding region of Cx32 by direct sequencing. Five of the families had a CMT1 diagnosis, 24 had a CMT2 diagnosis and 3 patients had an unspecified CMT. Eight families with a Cx32 point mutation were detected. Five different mutations (four of them published previously) were found in six CMT2 families and one mutation was found in a sporadic CMT1 male patient. One of the mutations, Met194Val, is among the first described in the fourth transmembrane domain of Cx32. Two CMT2 families and the sporadic CMT1 patient had the same mutation, Arg22Gln. An additional, previously unpublished mutation, Arg75Trp, was found in a male patient with unspecified CMT, who subsequently was verified to have a variant Klinefelter syndrome with 48,XXYY karyotype. Our findings show the difficulty in distinguishing CMTX patients from CMT1 and CMT2 patients, and they emphasize the need for Cx32 mutation screening in families previously diagnosed with CMT2. Received: 29 November 1996 / Revised: 17 February 1997     

Effects of 6/6 and 4/8 Watch Systems on Sleepiness among Bridge Officers

During the last ten years, severe sleepiness or falling asleep by watch keeping officers has been a direct or a contributing factor in a number of maritime accidents. This study examined the relationship between two watch systems and its impact on fatigue and sleepiness in bridge officers. A questionnaire and a sleep/work diary were sent to a representative sample of the Finnish Maritime Officer Association. In all, 185 bridge officers answered the questionnaire on sleep, work hours, and safety, including the Skogby Excessive Daytime Sleepiness index (SEDS); 42% of the bridge officers worked two 4 h watches (4/8) per day, while 26% worked two 6 h watches per day (6/6). Ninety‐five of the participants completed a sleep diary for seven consecutive days while at sea. The timing of the watch duties and sleep was recorded, as was subjective sleepiness every 2 h using the Karolinska Sleepiness Scale (KSS). 17.6% of the participants had fallen asleep at least once while on duty during their career. Compared to the 4/8 watch system, the officers working the 6/6 watch system reported shorter sleep durations, more frequent nodding‐off on duty (7.3% vs. 1.5%), and excessive sleepiness (32% vs. 16% with SEDS>14). Based on a logistic regression analysis, high SEDS was significantly related with probable obstructive sleep apnea (OR 5.7), the 6/6 watch system (OR 4.0), and morningness‐eveningness while controlling simultaneously several individual and sleep‐related factors. Subjective sleepiness (KSS) was highest at 04:00 and 06:00 h. In a multivariate analysis, the KSS was significantly related to time of day, time after awaking, sleep length, and interactions of the watch systems with age, morningness‐eveningness, and Epworth sleepiness scale (ESS) score. Severe sleepiness at 04:00–06:00 h was especially problematic in the 6/6 watch system among evening types and among the bridge officers with high ESS. The results suggest the 6/6 watch system is related to a higher risk of severe sleepiness during the early morning hours compared to the 4/8 and the other watch systems assessed.     

The timber and energy biomass potential of intensively managed cloned Norway spruce stands

We used ecosystem model simulations to study the timber and energy biomass potential offered by intensively managed cloned Norway spruce stands. More specifically, we analysed how the use of cloned trees compared with non‐cloned trees, together with thinning, nitrogen (N) fertilisation and rotation length (from 60 to 100 years), affects the annual mean production of timber (i.e., saw logs, pulpwood) and energy biomass (i.e., stumps and harvesting residuals in the final felling) and its economic profitability [annual mean of net present value (NPV) with a 2% interest rate]. Furthermore, we employed a life cycle analysis/emission calculation tool to assess the total net CO₂ emissions per unit of energy (kg CO₂ MW h^?1) produced based on energy biomass. We found that both the annual mean production of timber and the NPV increased substantially, regardless of the management regime, if cloned trees with an annual growth increase of up to 30% compared with non‐cloned trees were used in regeneration. In general, the use of a short rotation with N fertilisation clearly increased the annual mean of the NPV. Consequently, the use of cloned trees also clearly increased the annual mean production of energy biomass and decreased the total net CO₂ emissions per unit of energy produced based on energy biomass. However, the total annual net CO₂ emissions were the lowest if a long rotation was used with N fertilisation. To conclude, the use of cloned trees together with intensive management could potentially be highly beneficial for the cost‐efficient and sustainable production of timber and energy biomass in an integrated way.     

Skolt Sami ethnicity and cultural revival

The article is centred on a concern with limitations in our knowledge of youth's life experiences. I pose questions about the nature and implications of accounts of childhood by tracing ideas in early ethnographies and comparing these with my own attempts to frame youth differently. Using ideas of heroism and narrative, I examine the life histories of two young activists in order to comment on methodological approaches to exploring the world of youths, to ask how far we have come in catching their voices and experiences, and to comment on how far we have still to go.     

The size and germinability of Scots pine pollen in different temperatures in vitro

The effect of genotype, the origin of genotype, and germination temperature on Scots pine pollen grain size, hydration rate, germinability, and tube growth was studied in vitro. The mean sizes of dry and germinated pollen grains varied among pollen genotypes in different ways, thus the hydration rate varied among genotypes. Pollen from Scots pine that originates in northern Finland hydrated more than pollen from a population in southern Finland. Germination temperature had no effect on the hydration rate. Germinability and tube growth rate of northern genotypes were higher at 20 °C than at 15 °C. Differences among southern genotypes were not significant. At 15 °C, the germinability and pollen tube growth rate of northern genotypes were lower than southern genotypes. At 20 °C, the differences were not significant. It appears that germination and growth of pollen from northern populations are enhanced at higher temperatures whereas pollen from southern populations is unaffected.     

Large-Scale Purification of Rubella Virus and Preparation of an Experimental Split Rubella Virus Vaccine

Large-scale purification of rubella virus from tissue culture fluid and preparation of an experimental rubella subunit vaccine are described. The virus, purified isopycnically in sucrose gradients, was Tween 80-ether treated, and the product was filtered sterile. The vaccines were of two types, formalinized and nonformalinized. They were not infectious, had only a slight pyrogenicity, and caused no harmful symptoms in animals. The immune response in guinea pigs was better when the nonformalinized vaccine was used and the dosage was 2,500 hemagglutinating units per injection (0.5 ml).     

Discovery of Small Molecules that Activate RNA Methylation through Cooperative Binding to the METTL3-14-WTAP Complex Active Site

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Ecosystem carbon response of an Arctic peatland to simulated permafrost thaw

Permafrost peatlands are biogeochemical hot spots in the Arctic as they store vast amounts of carbon. Permafrost thaw could release part of these long‐term immobile carbon stocks as the greenhouse gases (GHGs) carbon dioxide (CO₂) and methane (CH₄) to the atmosphere, but how much, at which time‐span and as which gaseous carbon species is still highly uncertain. Here we assess the effect of permafrost thaw on GHG dynamics under different moisture and vegetation scenarios in a permafrost peatland. A novel experimental approach using intact plant–soil systems (mesocosms) allowed us to simulate permafrost thaw under near‐natural conditions. We monitored GHG flux dynamics via high‐resolution flow‐through gas measurements, combined with detailed monitoring of soil GHG concentration dynamics, yielding insights into GHG production and consumption potential of individual soil layers. Thawing the upper 10–15 cm of permafrost under dry conditions increased CO₂ emissions to the atmosphere (without vegetation: 0.74 ± 0.49 vs. 0.84 ± 0.60 g CO₂–C m^?2 day^?1; with vegetation: 1.20 ± 0.50 vs. 1.32 ± 0.60 g CO₂–C m^?2 day^?1, mean ± SD, pre‐ and post‐thaw, respectively). Radiocarbon dating (¹⁴C) of respired CO₂, supported by an independent curve‐fitting approach, showed a clear contribution (9%–27%) of old carbon to this enhanced post‐thaw CO₂ flux. Elevated concentrations of CO₂, CH₄, and dissolved organic carbon at depth indicated not just pulse emissions during the thawing process, but sustained decomposition and GHG production from thawed permafrost. Oxidation of CH₄ in the peat column, however, prevented CH₄ release to the atmosphere. Importantly, we show here that, under dry conditions, peatlands strengthen the permafrost–carbon feedback by adding to the atmospheric CO₂ burden post‐thaw. However, as long as the water table remains low, our results reveal a strong CH₄ sink capacity in these types of Arctic ecosystems pre‐ and post‐thaw, with the potential to compensate part of the permafrost CO₂ losses over longer timescales.