Introduction: Achondroplasia is the most common bone dysplasia. It is caused by mutations in the FGFR3 gene, which is involved in regulation of proliferation and maturation of chondrocytes on the growth plates. Activating mutation results in impaired endochondral ossification and a wide range of symptoms: severe growth disorder with limb shortening, macrocephaly with risk of hydrocephalus, mid-facial dysplasia, sleep apnea, narrowing of the spinal canal, increased risk of respiratory complications, and airway inflammation. The current rapid technological development has led to a better understanding of the processes of epiphyseal growth cartilage, thus enabling the development of new drugs for the treatment of this disorder (modified CNP, soluble FGFR3, meclozine). Nevertheless, current treatment is primarily symptomatic. It is very important to have a growth patterns of patients with achondroplasia who have not been affected by any growth promoting treatment (prolongation surgery, growth hormone). Objectives: The aim of this study is to evaluate the growth of Czech patients with achondroplasia, to compare our data with the world-wide used data by Horton et al. (1978) and the current data by del Pino et al. (2018). The next aim was to verify the accuracy of the multiplier method of final height...

<p>Fifty children with hematologic malignancies have been treated with autologous BMT in Uppsala. The aim was to describe late effects in this group with special reference to cataracts, reduced final height, and to hepatic, renal, and pulmonary late effects. </p><p>Cataracts: All patients who received TBI in their conditioning developed posterior subcapsular cataract after BMT. A few patients with visual impairment affecting daily life needed cataract surgery, whereas the visual acuity was well preserved in most of the other patients.</p><p>Final height: There was a decrease in final height relative both to height at BMT and to target height. This decrease was significant both in those who had received TBI only and in those who had been given cranial irradiation. Cranial irradiation, young age at BMT, and short duration of GH treatment were predictors of height loss. </p><p>Hepatic function: Hepatic function was well preserved over a period of 10 years after BMT. TBI did not appear to be a risk factor for hepatic impairment. </p><p>Renal function: Six months after BMT there was a decrease in renal function in patients who had received TBI. It then recovered, albeit incompletely, and stabilized. After the first year there was little change over a period of 10 years after BMT. TBI appeared to be the most important risk factor for the development of chronic renal impairment in a number of patients. Nephrotoxic antibiotics may have contributed.</p><p>Pulmonary function: Six months after BMT there was a decrease in pulmonary function in those who received TBI. It then recovered and stabilized at the pretransplant level. After the first year there was little change over a period of 10 years after BMT. TBI appeared to be the most important risk factor for restrictive pulmonary disease in a number of patients whereas chemotherapy might also have been of importance for impaired gas exchange.</p>

Fifty children with hematologic malignancies have been treated with autologous BMT in Uppsala. The aim was to describe late effects in this group with special reference to cataracts, reduced final height, and to hepatic, renal, and pulmonary late effects. Cataracts: All patients who received TBI in their conditioning developed posterior subcapsular cataract after BMT. A few patients with visual impairment affecting daily life needed cataract surgery, whereas the visual acuity was well preserved in most of the other patients. Final height: There was a decrease in final height relative both to height at BMT and to target height. This decrease was significant both in those who had received TBI only and in those who had been given cranial irradiation. Cranial irradiation, young age at BMT, and short duration of GH treatment were predictors of height loss. Hepatic function: Hepatic function was well preserved over a period of 10 years after BMT. TBI did not appear to be a risk factor for hepatic impairment. Renal function: Six months after BMT there was a decrease in renal function in patients who had received TBI. It then recovered, albeit incompletely, and stabilized. After the first year there was little change over a period of 10 years after BMT. TBI appeared to be the most important risk factor for the development of chronic renal impairment in a number of patients. Nephrotoxic antibiotics may have contributed. Pulmonary function: Six months after BMT there was a decrease in pulmonary function in those who received TBI. It then recovered and stabilized at the pretransplant level. After the first year there was little change over a period of 10 years after BMT. TBI appeared to be the most important risk factor for restrictive pulmonary disease in a number of patients whereas chemotherapy might also have been of importance for impaired gas exchange.