| 1. |
- Ljunggren, Östen, et al.
(författare)
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Allele-Specific Gene Silencing in Osteogenesis Imperfecta
- 2011
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Ingår i: Cartilage and Bone Development and Its Disorders. - : S. Karger AG. - 9783805597920 ; 21, s. 85-90
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Konferensbidrag (refereegranskat)abstract
- OI is caused by mutations in the genes encoding for collagen type I COL1A1 and COL1A2, respectively. The patients suffer from bone fragility, and the severity can range from mild, with fractures in the youth, to lethal forms. Today, there is no effective treatment for the disorder. OI is caused by dominant negative mutations. A tempting approach to treat the disease would be to silence the allele carrying the mutation. This could in theory be done with siRNAs. Today, more than 800 various mutations are reported, and to create siRNA against a specific mutation is difficult. Instead, by developing siRNA against common polymorphic variations, it would be possible to silence the mutation by a standardized method regardless where the mutation is located on the allele. If the concept of allele-specific gene silencing by inhibitory RNA directed towards dominant negative mutations could be proven, this might be a novel approach to gene therapy in OI.
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| 2. |
- Norjavaara, Ensio, 1954, et al.
(författare)
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Sex Steroid Replacement Therapy in Female Hypogonadism from Childhood to Young Adulthood.
- 2016
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Ingår i: Endocrine development. - : S. Karger AG. - 1662-2979 .- 1421-7082. ; 29, s. 198-213
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Tidskriftsartikel (refereegranskat)abstract
- The overall goal of pubertal sex hormone replacement therapy (HRT) in girls is not only about development of secondary sexual characteristics, but also to establish an adult endocrine and metabolic milieu, as well as adult cognitive function. Estradiol (E2) is the first choice for HRT compared to ethinyl estradiol (EE2). E2 is the most potent endogenous estrogen in the circulation, with established levels during spontaneous puberty. Transdermal E2, compared to oral administration, is the first choice to start pubertal HRT. Transdermal application avoids liver exposure to supraphysiologic estrogen concentrations and provides a more physiologic mechanism for hormone delivery. By cutting E2 matrix patches in doses of 0.05-0.07 µg/kg or administrate E2 gel in doses of 0.1 mg/day, serum concentrations of E2 seen in early spontaneous puberty can be obtained. Patches can be removed in the morning and thereby mimic the normal circadian rhythm. For those clinics with access to sensitive E2 determinations methods (extraction followed by radioimmunoassay or mass spectrometry) monitoring the attained E2 serum levels is recommended in order to optimally mimic the levels seen in early puberty as well as growth velocity, breast and uterus development. Mid- and late pubertal HRT is obtained by increased doses of E2, adding cyclic oral or transdermal progestin, as well as testosterone gel over the pubic area if indicated.
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| 4. |
- Isgaard, Jörgen, 1959
(författare)
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Ghrelin and the cardiovascular system.
- 2013
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Ingår i: The Ghrelin System. Eds: Benso A.; Casanueva F.F.;Granata R.. - : Karger. - 1662-2979. - 9783805599085 ; 25, s. 83-90
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Bokkapitel (refereegranskat)abstract
- Although ghrelin was initially associated with regulation of appetite, the cardiovascular system has also been recognized as a potentially important target for its effects. Moreover, experimental and a limited number of clinical studies suggest a potential role for ghrelin in the treatment of congestive heart failure. So far, reported cardiovascular effects of growth hormone secretagogues and/or ghrelin include lowering of peripheral resistance, either direct at the vascular level and/or by modulating sympathetic nervous activity. Other observed effects indicate possible improvement of contractility and cardioprotective and anti-inflammatory effects both in vivo and in vitro. Taken together, these results offer an interesting perspective on the future where further studies aiming at evaluating a role of growth hormone secretagogues and ghrelin in the treatment of cardiovascular disease are warranted.
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| 5. |
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| 6. |
- Johansson, Therése, et al.
(författare)
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Very long-term follow-up of girls with early and late menarche
- 2005
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Ingår i: Abnormalities in puberty. - Basel : Karger. - 9783805578677 - 3805578679 ; 8, s. 126-136
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- Short- and long-term psychosocial effects of precocious or early normal puberty are probably more important for individuals than the moderate losses in final height they experience. Despite this, pediatric endocrinologists have focused much more on final height than psychosocial outcomes. As a surrogate for long-term follow-up studies of girls with precocious puberty, we have reviewed the results of a very long-term study of physical and psychosocial development of girls with normal early puberty. Results revealed that at age 15-16, girls with menarche before age 11 (early) were more norm-breaking, including being delinquents. In addition, they had earlier advanced sexual experiences. By adult age, there were no differences in psychosocial adjustment between the early- and late-developed women. Thus, the effects of early pubertal timing for psychosocial problems seem to be adolescent-limited. At ages 27 and 43, early-developed women had lower academic education. Regarding somatic development, at age 43, women with early menarche were shorter and heavier, had worse physical fitness and dieted more frequently compared to other women. There was no difference in quality of life. In searching for reasons for the antisocial behaviors in adolescence and the lower educational levels among early developers, early heterosexual relations seem to be the most crucial.
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