Benign external hydrocephalus: a review, with emphasis on management

Benign external hydrocephalus in infants, characterized by macrocephaly and typical neuroimaging findings, is considered as a self-limiting condition and is therefore rarely treated. This review concerns all aspects of this condition: etiology, neuroimaging, symptoms and clinical findings, treatment, and outcome, with emphasis on management. The review is based on a systematic search in the Pubmed and Web of Science databases. The search covered various forms of hydrocephalus, extracerebral fluid, and macrocephaly. Studies reporting small children with idiopathic external hydrocephalus were included, mostly focusing on the studies reporting a long-term outcome. A total of 147 studies are included, the majority however with a limited methodological quality. Several theories regarding pathophysiology and various symptoms, signs, and clinical findings underscore the heterogeneity of the condition. Neuroimaging is important in the differentiation between external hydrocephalus and similar conditions. A transient delay of psychomotor development is commonly seen during childhood. A long-term outcome is scarcely reported, and the results are varying. Although most children with external hydrocephalus seem to do well both initially and in the long term, a substantial number of patients show temporary or permanent psychomotor delay. To verify that this truly is a benign condition, we suggest that future research on external hydrocephalus should focus on the long-term effects of surgical treatment as opposed to conservative management

Harnessing the Potential of Human Pluripotent Stem Cells and Gene Editing for the Treatment of Retinal Degeneration

PURPOSE OF REVIEW: A major cause of visual disorders is dysfunction and/or loss of the light-sensitive cells of the retina, the photoreceptors. To develop better treatments for patients, we need to understand how inherited retinal disease mutations result in the dysfunction of photoreceptors. New advances in the field of stem cell and gene editing research offer novel ways to model retinal dystrophies in vitro and present opportunities to translate basic biological insights into therapies. This brief review will discuss some of the issues that should be taken into account when carrying out disease modelling and gene editing of retinal cells. We will discuss (i) the use of human induced pluripotent stem cells (iPSCs) for disease modelling and cell therapy; (ii) the importance of using isogenic iPSC lines as controls; (iii) CRISPR/Cas9 gene editing of iPSCs; and (iv) in vivo gene editing using AAV vectors.RECENT FINDINGS: Ground-breaking advances in differentiation of iPSCs into retinal organoids and methods to derive mature light sensitive photoreceptors from iPSCs. Furthermore, single AAV systems for in vivo gene editing have been developed which makes retinal in vivo gene editing therapy a real prospect.SUMMARY: Genome editing is becoming a valuable tool for disease modelling and in vivo gene editing in the retina.</p

Strength training for physical performance and injury prevention in sports. Individualised and supervised training for female athletes.

The overall purpose of this thesis was to obtain knowledge about individualised, supervised strength and conditioning programmes for physical performance and injury prevention in female athletes. Data are presented both on the influence of individualisation and supervision during resistance training for physical performance and injury prevention and on the athletes’ experience of resistance training and the role of the physical coach. Data are also presented on physical performance testing and injury prevalence and preventive action in female volleyball. Study I: The purpose of this study was to examine the prevalence of injury and the extent of preventive action in elite Swedish volleyball players. Injuries to players in the elite male and female Swedish division, during the 2002-2003 season, were registered using a questionnaire. Of the 158 volleyball players, a total of 82 players (52%) reported 121 injuries, during a total exposure time of 24,632 h. The majority of the injuries were located in the ankle, knee and back. Most injuries were classified as being of minor severity. Although most players took part in some kind of preventive action, one in every two players incurred an injury during the season, which indicates that the risk of suffering an injury in elite volleyball is relatively high. Study II: The purpose of Study II was to evaluate the test-retest reliability of sit-ups and push-ups and to investigate performance differences in muscular endurance (maximum number of repetitions) and power (timed; maximum number of repetitions in 30 s) in young women and men. Thirty-eight women and 25 men (age18-35) participated in the study. Thirteen female participants performed two test sessions of each test using a test-retest design. A high level of reliability was noted for both the sit-up and the push-up tests. There were no significant differences between the men and the women in the sit-up test, whereas the men performed significantly more push-ups than the women. Study III: The purpose of Study III was to evaluate the effects of a 26-week individualised and supervised strength and injury-prevention programme on performance enhancement. Young female volleyball players completed resistance training with either a supervised, individualised training programme (experimental group; n=10) or an unsupervised, non-individualised training programme (control group; n=17). Exposure and injury data were collected during the 2006-2007 season (baseline) and the 26-week programme with physical performance testing was carried out during the 2007-2008 season. After the intervention, the experimental group had improved significantly more (p<0.05) than the control group in the squat, barbell bench press, push-ups and sit-ups. Individualisation and supervision of resistance training seem to improve greater training adherence and strength gains compared with non-individualised and unsupervised training. Study IV: The purpose of Study IV was to explore and describe volleyball players’ experience of an individualised, supervised strength-training programme aiming at physical performance and injury prevention. The purpose was also to use the players’ observations to obtain an understanding of the role of a physical coach. The study comprised nine participants (mean age 19 years) who had been involved as the experimental group in Study III. Data were collected using semi-structured interviews and were analysed using qualitative conventional content analysis. Three overarching themes describing the content of the text emerged: 1) being in an enjoyable, relaxed situation, 2) interaction between coach and athlete and 3) mental and physical achievements. Conclusions: Individualisation and supervision appear to be of importance for compliance, strength gains and athletic performance, during strength training. From the female team athletes’ perspective, the willingness to perform strength training is dependent on team spirit, individual goal-setting and bonding with the coach. Strength training, on the one hand, could be used to improve self-esteem among young females. On the other hand, when designing strength-training intervention studies, it is important to be aware of the fear and feeling of uncertainty that may exist among the participants when it comes to strength training