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Prader–Willi Syndrome: An Example of Genomic Imprinting
Published in Merlin G. Butler, F. John Meaney, Genetics of Developmental Disabilities, 2019
Obesity is the most significant health problem in PWS and an increasingly common trait found in about one-half of the US adult population. It is on the rise in children. Obesity is a risk factor in 5 of the top 10 causes of death (heart disease, stroke, diabetes, atherosclerosis, and malignancies) in this country (27). Weight control and diet restrictions are constant key management issues in PWS. Because growth hormone deficiency is a common finding in PWS children, many of them are placed on growth hormone treatment which decreases obesity (fat mass), increases muscle mass and stature, and improves physical activity (28,29). Caloric restriction of 6–8 calories/cm of height beginning in early childhood should allow for weight loss, and 10–12 calories/cm of height may be required to maintain weight in PWS subjects. This caloric requirement to maintain weight is about 60% of normal. To be successful, a diet plan should include close consultation with a dietitian and an exercise program designed specifically for the individual to meet the growth needs and ensure overall good health and development.
Influence of Dietary Supplements on Body Composition
Published in Henry C. Lukaski, Body Composition, 2017
In a much cited study, 24 growth hormone deficient men and women treated with growth hormone for 6 months demonstrated substantial anabolic and lipolytic effects (Salomon et al. 1989). There was no change in body weight in the hormone-treated group. The placebo group also demonstrated no changes in body composition, but it gained an average 5.5 kg of lean mass and lost an average of 5.7 kg fat mass. Circulating levels of insulin-like growth factor 1 (IGF-1) were tripled during the growth hormone treatment. In a 10-year follow up, 10 of the patients with continued growth hormone treatment were compared to 11 that stopped treatment, and a control group from the same era. The results demonstrated sustained increased muscle mass (measured by total body potassium and CT cross-sectional views of the thigh) (Gibney et al. 1999). In studies of healthy fit men and women without growth hormone deficiency, Crist and his colleagues demonstrated similar effects of growth hormone administration (Crist et al. 1988, 1991). Using underwater weighing, they estimated progressive increases in fat-free mass and concurrent declines in fat mass averaging 1.3 kg after 18 weeks of treatment (Crist et al. 1991). Growth hormone administration to healthy individuals consistently increases circulating IGF-1 concentrations but the thyroid axis has also been reported to be suppressed. Both of these effects may contribute to muscle protein accretion (Crist et al. 1991; Sgro et al. 2010).
Efficacy and safety of a needle-free injector in Chinese patients with type 2 diabetes mellitus treated with basal insulin: a multicentre, prospective, randomised, crossover study
Published in Expert Opinion on Drug Delivery, 2019
Ying Xing, Xiaomin Xie, Jing Xu, Jianrong Liu, Qingzhen He, Wenjuan Yang, Nana Zhang, Xiaomiao Li, Li Wang, Jianfang Fu, Jie Zhou, Bin Gao, Jie Ming, Xiangyang Liu, Jingbo Lai, Tao Liu, Min Shi, Qiuhe Ji
In the last 10 years, with the good performance of glucagon-like peptide-1 (GLP-1) receptor agonists in clinical studies of cardiovascular outcomes and the efficacy of these agents in reducing blood glucose and producing weight loss, they have been recommended for diabetic patients as a second-line combination treatment option in addition to metformin by more and more international guidelines. For example, in the latest consensus recommendations of the ADA and EASD, it has been clearly pointed out that GLP-1 receptor agonists are one of the first choices for use in combination with metformin in patients with type 2 diabetes who have a history of atherosclerotic heart disease [2]. However, we shouldn’t ignore the fact that the way of treatment with injections has become the biggest obstacle to GLP-1 for its clinical application and compliance. As well as for treatment of diabetes, the needle-free injector has good prospects for clinical application of other drugs such as GLP-1 receptor agonists by changing the mode of administration. Moreover, a large number of clinical studies have been conducted on the use of needle-free injectors for growth hormone treatment [25–27]. We believe that this type of injection represents a trend in the future of injection therapy.
Detailed retinal phenotype of Boucher-Neuhäuser syndrome associated with mutations in PNPLA6 mimicking choroideremia
Published in Ophthalmic Genetics, 2019
Erin O’Neil, Leona Serrano, Drew Scoles, Kayla E Cunningham, Grace Han, John Chiang, Jean Bennett, Tomas S. Aleman
The patient was negative for REP1 (CHM) mutations in two separate screenings. A broader search revealed compound heterozygous mutations in PNPLA6, a paternally inherited c.3088_3091dupAGCC (p.Arg1031GlnfsTer38) and a c.3548G>A (pArg1183Gln) of maternal origin. On further discussion, he did recount a prior medical history of growth hormone deficiency, hypogonadotropic hypogonadism, and hypothyroidism diagnosed when he was 7 years of age due to failure to thrive. Growth hormone treatment was started at age 7 and continued until age 16. Testosterone and levothyroxine supplementation were also started during puberty and has continued to present. He is 183 cm tall. He further endorsed occasional loss of balance, even while standing still, although his neurologic exam was entirely normal. There was no ataxia, peripheral neuropathy or cognitive problems. Despite his normal neurologic exam, MRI imaging performed to rule out neurologic causes of vision loss demonstrated mild superior cerebellar vermian parenchymal volume loss (Figure 2, white arrows). This clinical triad of cerebellar changes, hypogonadotropic hypogonadism, and chorioretinal dystrophy is most consistent with Boucher- Neuhäuser syndrome, one of a spectrum of the clinical phenotypes associated with mutations in PNPLA6.
Care of the adult woman with Turner syndrome
Published in Climacteric, 2018
S. Shah, H. H. Nguyen, A. J. Vincent
The recommended starting age for HRT is 11–12 years old, commencing with low-dose estrogen therapy and up titrated gradually every 6 months to mimic normal physiological levels, with the aim of completing feminization over a 2–3-year period8. When short stature is a concern, consideration may be given to commencing growth hormone treatment prior to or with concurrent low-dose estrogen therapy18. Delayed initiation of estrogen therapy may negatively impact bone health, breast and uterus development and psychosocial well-being. A progestogen should be added after the first vaginal bleed or after 2 years of estrogen therapy to minimize the risk of endometrial hyperplasia due to unopposed estrogen therapy8. Titration of HRT is important and the ethinylestradiol combined oral contraceptive pill (OCP) or early introduction of progestogen should be avoided as abnormal breast development may occur19.