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Genetics
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Jane A. Hurst, Richard H. Scott
Monitoring and supportive management of development, growth and feeding is provided and endocrinology referral for management of growth retardation. Growth hormone therapy is beneficial in some cases, even in the absence of deficiency. Orthopaedic referral is provided in cases with marked leg length discrepancy.
Role of Engineered Proteins as Therapeutic Formulations
Published in Peter Grunwald, Pharmaceutical Biocatalysis, 2019
Khushboo Gulati, Krishna Mohan Poluri
Another well-known hormone replacement therapy is growth hormone therapy. Recombinant human growth hormone is being used for the treatment of dwarfism in children and adults, and also used as replacement therapy in the children deficient in growth hormone. Growth hormone is administered subcutaneously at higher doses to improve the height outcome. GH is also being used in other disorders including Turner Syndrome, chronic renal failure, idiopathic short stature, intrauterine growth restriction, and idiopathic short stature, etc. (Bajpai and Menon, 2005). Cox et al. engineered long-acting mono-PEGylated growth hormone analogs which exhibit complete bioactivity, enhanced potency, and prolonged half-life in vivo. This analog was developed by substituting the cysteine residue at third position with threonine, followed by the chemical modification of cysteine residue by the PEG chains. PEG-T3C showed 8-fold longer half-life than GH when administered subcutaneously in rats (Cox et al., 2007). The authors further focused on increasing its stability in solution to make it amenable to other delivery systems. They applied the computational approach to increase the thermostability of GH. The engineered GH contained 6–10 mutations, showed improved pharmacokinetics, stability, and long half-life (Filikov et al., 2002). Such a strategy can also be applied to other protein therapeutics to improve their pharmacokinetic profiles.
Prader–Willi Syndrome: An Example of Genomic Imprinting
Published in Merlin G. Butler, F. John Meaney, Genetics of Developmental Disabilities, 2019
Approximately 90% of subjects with PWS without growth hormone treatment will have short stature by adulthood. Growth standards for Caucasian PWS males and females aged 2–22 years, without a history of growth hormone therapy, have been developed by Butler and Meaney (33) in 1991 and used in the clinical setting to monitor growth parameters of PWS and to compare with healthy and normal subjects. For example, the 50th centile for height in the PWS group fell below the normal 5th centile by the age of 12–14 years, whereas the 50th centile for weight in the PWS group approximated the 95th centile in the healthy control group. Height may follow the 10th centile or below until the age of 10 years for females and 12 years for males at which time the height velocity often declines relative to normal due to the lack of a growth spurt. Growth hormone therapy will increase the growth spurt and impact positively on the ultimate height and body composition in the PWS subject.
Multifactorial influences on successful health outcomes for an adolescent with Prader-Willi syndrome: a qualitative case study
Published in Physiotherapy Theory and Practice, 2023
Nicole Campbell, Scott Van Zant, Joyce Lammers
From birth until late childhood she received periodic treatment of physical, occupational, and speech therapies. At 5.5 months of age she began (and continues with) growth hormone therapy. Throughout childhood and adolescence, she has maintained a healthy BMI (currently 21.5 kg/m2), ranging between the 25–50th percentiles weight for height. At age 9 she was diagnosed with scoliosis and is presently treated with a brace. At age 13 she was diagnosed with sleep apnea, which is managed with the use of a continuous positive airway pressure (CPAP) device. She is currently unaware of the hyperphagia frequently associated with PWS as an intentional decision by her parents to withhold this information. She shows minimal hyperphagic tendencies as indicated by her Hyperphagia Questionnaire (HQ) score of 14/55 (Dykens et al., 2007). Although never formally diagnosed, her parents report she has obsessive compulsive tendencies and does demonstrate some of the compulsive type characteristics frequently associated with the syndrome. She has an IQ that is below average at 74 but is still greater than the average IQ reported for individuals with PWS (Eiholzer et al., 2000). She is able to take part in college prep courses at her high school, and according to her parents she is able to understand the concept of calories and healthy eating but may have difficulty applying this information at times.
Emerging drug targets for achondroplasia
Published in Expert Opinion on Therapeutic Targets, 2022
Individuals with achondroplasia experience a variety of medical issues over their lifespan, ranging from an increased risk of sudden infant death before age 5 years, to sleep disordered breathing, to spinal curvature and symptoms related to narrowing of the foramen magnum with cervico-medullary compression in infancy, and spinal canal stenosis in adulthood that often require surgery to decompress [3,6]. Until very recently, treatment has predominantly been expectant and surgical. Treatment with recombinant human growth hormone has been used in children with ACH and is an approved therapy for this indication in Japan. However, children with ACH have normal serum growth hormone levels, and the beneficial effect of growth hormone therapy on final adult height in these children has not been demonstrated [7]. Similarly, limb-lengthening surgical procedures have been used in some countries to increase height, but this practice varies considerably worldwide depending on resources and cultural expectations and norms. Currently, there is no international consensus regarding if limb lengthening surgery should be performed in children with ACH or regarding the timing when such surgery, if undertaken, should occur [3].
Hypotonia and delayed motor development as an early presentation of Lowe syndrome: case report and literature review
Published in Acta Clinica Belgica, 2019
Sara David, Kathleen De Waele, Bram De Wilde, Franny Faes, Olivier Vanakker, Sophie Walraedt, Agnieszka Prytuła
As reported by Zaniew et al. patients with LS often require bicarbonate, citrate and vitamin D supplements, but in fact these are prescribed insufficiently [7]. The use of thiazides, indomethacin and ACE-inhibitors to correct acidosis and proteinuria is controversial because of their side-effects, which may put patients with LS into a risk of dehydration and AKI [7]. A small number of patients have successfully undergone renal transplantation [3]. Despite of good correction of the tubular dysfunction, some patients develop pathological fractures. Intravenous pamidronate treatment can be considered [3]. For growth impairment, recombinant human growth hormone therapy is only indicated in case of demonstrable growth hormone deficiency [2]. Tranexamic acid administration in times of bleeding risk or provocation usually ameliorates platelet function in LS [1].