Mutations in the telomere capping complex in bone marrow failure and related syndromes

Dyskeratosis congenita and its variants have overlapping phenotypes with many disorders including Coats plus, and their underlying pathology is thought to be one of defective telomere maintenance. Recently, biallelic CTC1 mutations have been described in patients with syndromes overlapping Coats plus. CTC1, STN1 and TEN1 are part of the telomere-capping complex involved in maintaining telomeric structural integrity. Based on phenotypic overlap we screened 73 genetically uncharacterized patients with dyskeratosis congenita and related bone marrow failure syndromes for mutations in this complex. Biallelic CTC1 mutations were identified in 6 patients but none in either STN1 or TEN1. We have expanded the phenotypic spectrum associated with CTC1 mutations and report that intracranial and retinal abnormalities are not a defining feature, as well as showing that the effect of these mutations on telomere length is variable. The study also demonstrates the lack of disease-causing mutations in other components of the telomere-capping complex.     

Characteristics and development of therapeutic patient education in rheumatoid arthritis: Analysis of the 2003–2008 literature

ObjectiveThe aim of this study is to point out the recent characteristics and developments of therapeutic patient education (TPE) in rheumatoid arthritis through an analysis of the international articles published from 2003 to 2008.MethodStudies were selected from major databases, using the following keywords: rheumatoid arthritis, patient education, self-management, programs. Three authors independently reviewed each study and selected the data using the patient education research categories (PERC). Articles consistently related to patient education in rheumatoid arthritis (37 among 109) were included.ResultsThe selected articles have been published in 23 scientific journals. The majority of them concern TPE for adult patients with rheumatoid arthritis. TPE is delivered in several structures and group education represents the most widespread educational strategy mainly provided by a multiprofessional team. There are two types of programs: educational, aiming to make the patient competent in the daily management of his disease and psycho-educational ones, aiming to improve coping and to decrease stress, anxiety and depression. Twenty-eight studies show the effectiveness of TPE on the basis of bio-clinical, educational, psychosocial, economical criteria, but the majority of these positive results are observed in short-term. Barriers to TPE are linked to cultural and socio-economic factors.ConclusionA large number of studies still assess the positive effects of TPE. Nowadays, the problems of short-term efficacy of TPE and the cultural and social barriers to this practice have become a major issue for research.     

Using EMGs and kinematics data to study the take-off technique of experts and novices for a pole vaulting short run-up educational exercise

This study attempts to characterise the electromyographic activity and kinematics exhibited during the performance of take-off for a pole vaulting short run-up educational exercise, for different expertise levels. Two groups (experts and novices) participated in this study. Both groups were asked to execute their take-off technique for that specific exercise. Among the kinematics variables studied, the knee, hip and ankle angles and the hip and knee angular velocities were significantly different. There were also significant differences in the EMG variables, especially in terms of (i) biceps femoris and gastrocnemius lateralis activity at touchdown and (ii) vastus lateralis and gastrocnemius lateralis activity during take-off. During touchdown, the experts tended to increase the stiffness of the take-off leg to decrease braking. Novices exhibited less stiffness in the take-off leg due to their tendency to maintain a tighter knee angle. Novices also transferred less energy forward during take-off due to lack of contraction in the vastus lateralis, which is known to contribute to forward energy transfers. This study highlights the differences in both groups in terms of muscular and angular control according to the studied variables. Such studies of pole vaulting could be useful to help novices to learn expert's technique.     

Characterization by culture and molecular analysis of the microbial diversity of a deep subsurface gas storage aquifer

The bacterial diversity of a subsurface water sample collected from a gas storage aquifer in an Upper Jurassic calcareous formation was investigated by culture of microorganisms and construction of a 16S rRNA gene library. Both culture and molecular techniques showed that members of the phyla Firmicutes and class δ-proteobacteria dominated the bacterial community. The presence of hydrogen-utilizing autotrophic bacteria including sulfate reducers (e.g. Desulfovibrio aespoeensis) and homoacetogens (e.g. Acetobacterium carbinolicum) suggested that CO₂ and H₂ are the main carbon and energy sources sustaining a nutrient-limited subsurface lithoautotrophic microbial ecosystem (SLiME). Gram-positive SRB belonging to the genus Desulfotomaculum, frequently observed in subsurface environments, represented 25% of the clone library and 4 distinct phylotypes. No Archaea were detected by both experimental approaches.Water samples were collected in an area of the rauracian geological formation located outside the maximum seasonal extension of underground gas storage. Considering the observed microbial diversity, there is no evidence of any influence on the microbial ecology of the aquifer in the surroundings of maximum extension reached by the gas bubble of the underground storage, which should have resulted from the introduction of exogenous carbon and energy sources in a nutrient-limited ecosystem.     

Systematic review of manual therapies for nonspecific neck pain

ObjectiveTo evaluate the effectiveness of manual therapies in the treatment of nonspecific neck pain.Materials and methodsMedline and the Cochrane Library were searched for randomized controlled trials of manual therapy or mobilization, used alone or with exercises to treat pain and functional impairment related to nonspecific neck pain. Cochrane Back Review Group criteria were used to assess the quality of the trials and the level of evidence (unclear, limited, moderate, or high) for short-, medium-, and long-term effects.ResultsOf 27 identified trials, 18 were of high quality. In acute neck pain, effective treatments were thoracic manipulation combined with electrothermal therapy in the short term and cervical manipulation in the long term. In chronic neck pain and neck pain of variable duration, both pain and function improved consistently at all follow-up time points. None of the manual therapies used alone or in combination was superior over the others. In the long term, exercises alone or combined with manual therapies were superior over manual therapies used alone.ConclusionManual therapies contribute usefully to the management of nonspecific neck pain. The level of evidence is moderate for short-term effects of upper thoracic manipulation in acute neck pain, limited for long-term effects of neck manipulation, and limited for all techniques and follow-up durations in chronic neck pain.     

A rare case of closed pantalar dislocation combined with Lisfranc's injury—The unusual complex

Closed pantalar dislocation with associated Lisfranc's injury is a very rare injury. We report a rare case of such injury. Our patient had fall from height and presented with closed pantalar dislocation with Lisfranc's injury of the left foot and other multiple injuries. He was immediately operated and dislocation was reduced and was stabilised with multiple Kirschner wires. At the end of 1 year follow up, he had an AOFAS score of 78 and had painless ankle movements. To the best of our knowledge, this is the first case reported with such a rare combination of injury.     

Utilization of radiotherapy for rectal cancer in Greater Western Sydney 1994–2001

Background and purpose: Despite evidence for the efficacy of radiotherapy in stages II and III rectal cancer, utilization rates remain low. The aim of this study is to examine patient, provider and service factors affecting utilization of radiotherapy in rectal cancer patients. Materials and methods: Patients with a diagnosis of curable rectal cancer were identified from the colorectal tumor databases of three Sydney Area Health Services between 1994 and 2001. Data were collected on tumor characteristics such as site and stage, provider factors such as type of surgery and surgeon caseload, and patient factors including socioeconomic status and access to radiotherapy. Results: Thirty‐five percent of stage II and 57% of stage III rectal cancer patients received radiotherapy. Independent determinants of utilization were age less than 70 years (odds ratio, 2.96; 95% confidence interval, 1.75–5.03), high‐volume surgeons (OR, 1.95; 95% CI, 1.17–3.24), stage III disease (OR, 2.06; 95% CI, 1.25–3.41) and abdominoperineal resections (OR, 3.67; 95% CI, 1.94–6.94). Conclusion: Radiotherapy utilization rates remain low. Age, and being referred to a surgeon with a high caseload, has a greater impact on radiotherapy utilization than other provider, socioeconomic or service factors.     

The sleep of Africans and Europeans in the Ivory Coast: questionnaire study

Sleep behaviour has been extensively studied with questionnaires in industrialised countries to investigate the epidemiology of sleep-wake disorders. However, only few attempts have yet been made to examine sleep behaviour of people living in Africa. Although, a large number of studies in hot or cold environments have used short-term exposures, reporting disrupted sleep for most of them, long-term exposures to stressful thermal environments are rare in the literature. Prior to the present investigation, we used questionnaires to analyse the effects of seasonal heat increase on perceived sleep behaviour and sleep quality in young native African students in Niger [7], even though these methods of investigation are by no means as accurate as polysomnographic recordings. The hypothesis was that sleep behaviour may be influenced by climatic variations in a hot dry tropical climate. Such climatic variations have been shown to induce seasonal heat acclimatisation marked by changes in body temperature rhythms in the hot versus the cool season [13]. Sleep behaviour was examined during two 7-day periods in January ("cool-dry" season, 88 subjects) and May ("hot-dry" season, 53 subjects). The questionnaire was completed after night sleep and/or naps. The subjects slept an average of 7 1/2 hours a day, most of them having afternoon naps. They experienced no major seasonal variation in their sleep behaviour, but for an increased number of awakenings during the hot season. Restorative quality of sleep scored lower after a nap than after nocturnal sleep. Therefore, general sleep characteristics were not modified by seasonal temperature variations in African native students, perhaps because of the limited changes in daylight under the low latitude of Niamey. Another investigation was carried out using the same 12-item questionnaire in Abidjan on 78 medical students who did not have a nap [9]. Contrary to the Niamey students, the Abidjan subjects adopted short duration sleep schedules, without any effect on the subjective quality of the restorative properties of their sleep.     

Soft tissue augmentation for implant dentistry

This article describes the soft tissue gingival augmentation techniques used in periodontal therapy and their advantages in implant dentistry. The procedures described include the free gingival graft, apically and coronally positioned grafts, the pouch procedure (or subepithelial connective tissue graft), the inverted pouch procedure or roll technique, and combination techniques. The author presents solutions that most clinicians commonly use when placing implants in the esthetic zone.