Reference data for jumping mechanography in healthy children and adolescents aged 6-18 years.

OBJECTIVES: To present gender-specific pediatric normative data on the main parameters of muscle function assessed using jumping mechanography. METHODS: The study population included 796 non-selected Caucasian children and adolescents (432 girls and 364 boys) aged 6-19 years recruited from 6 primary schools and 3 high schools. Maximum peak power (Pmax) was examined by a single two-legged jump, and maximum force (Fmax) was examined by a multiple one-legged hopping. All measurements were performed using a portable force platform (Leonardo Mechanograph, Novotec). Pmax, Pmax/mass, Fmax and Fmax/body weight were analyzed as the main outcome parameters. LMS method was used to generate age- and weight-specific reference smooth curves. RESULTS: Both Pmax and Fmax were strongly dependent on age and weight in both genders (all p<0.001). In prepubertal children, there was no intergender difference in Pmax or Fmax. Both parameters steadily increased in boys and plateaued in girls aged >13 years. Whereas Pmax/mass was more dependent on anthropometric parameters, Fmax/BW remained nearly constant with respect to age and weight. CONCLUSIONS: These reference data are intended to assist clinicians in the assessment of muscle function by jumping mechanography in pediatric patients.

Boys with haemophilia have low trabecular bone mineral density and sarcopenia, but normal bone strength at the radius.

Although a decreased areal bone mineral density (BMD) has been reported in patients with haemophilia, data are lacking that would reflect the three-dimensional structure of the bone and the muscle-bone relationship. We aimed to assess volumetric BMD, bone geometry and muscle-bone phenotype in boys with haemophilia, and to describe the association between clinical characteristics of haemophilia and bone quality and structure. A cross-sectional study was conducted in 41 boys with haemophilia (mean age 12.4, range 6.6-19.8 years) using peripheral quantitative CT (pQCT) at the nondominant forearm. Results were transformed into Z-scores using previously published reference data. Significant differences were tested by one-sample t-test or sign test. Two-sample t-test and anova were used to compare results between subgroups of patients divided according to the severity of the disease, the fracture history and the number of joint and muscle bleedings. Boys with haemophilia had a decreased trabecular volumetric BMD (mean Z-score -0.5, P < 0.01), while their cortical volumetric BMD was increased (mean Z-score 0.4, P < 0.05). The volumetric bone mineral content and the bone geometry at the radial diaphysis were normal when adjusted for patients' shorter body height. Muscle area was decreased (mean Z-score -1.0, P < 0.001), irrespective of age. No association was observed of bone quality parameters and bone geometry with the disease severity, fracture history or number of bleedings. Bone strength measured at the diaphysis of the radius is not impaired in boys with haemophilia. The finding of the decreased trabecular bone density can be most likely attributed to their sarcopenia.

Defect-diaphragmatic ratio: a new parameter for assessment of defect size in neonates with congenital diaphragmatic hernia.

AIM: The aim of our study is to introduce a new objective method of perioperative evaluation of the size of diaphragmatic defect to enable comparison of results among various centres and methods used for diaphragmatic reconstruction. MATERIALS AND METHODS: Prospective observational study of neonates with congenital diaphragmatic hernia (CDH) and respiratory distress within 24 h of birth operated on from January 2009 to December 2011. Weight, length, thoracic shape and the diameters of diaphragmatic defect were measured. To determine the relative size of the defect, a defect-diaphragmatic ratio (DDR = defect area:diaphragm area × 100) was calculated. The measured and calculated data were subsequently compared between Gore-Tex patch group (GT) and primary repair group (PR). Mann-Whitney U test was used for statistical analysis. RESULTS: Forty-seven patients with CDH were admitted during study period. The overall survival rate was 79 % (37/47). Preoperative stabilization was achieved in 85 % (40/47). Survival of operated neonates was 93 % (37/40). Diaphragmatic reconstruction with Gore-Tex patch was used in 7 neonates (17 %), and primary repair in 33 (83 %). Mortality in Gore-Tex group was 29 %; mortality in primary repair group was 3 %. Data of anthropometric measurement were complete in 34 children (5 GT and 29 PR). Significant differences were found between GT group and PR group in the size of diaphragmatic defect with the transverse and sagittal diameters of defect (48.0 ± 5.7 vs. 30.1 ± 5.9, P < 0.00061; 34.0 ± 12.5 vs. 16.0 ± 7.3, P < 0.0022) and DDR (18.29 ± 4.60 vs. 5.77 ± 3.28, P < 0.0005), respectively. CONCLUSION: The value of DDR as an objective criterion of the extent of diaphragmatic defect was confirmed by the close correlation between DDR and feasibility of primary repair in the study group. This objective assessment of defect size may improve comparing various surgical techniques and results of different centres, and thus facilitates sharing experience with management of neonates with CDH.

Large diaphragmatic defect: are skeletal deformities preventable?

PURPOSE: The aim of study was to compare growth, nutritional status and incidence of chest wall deformities and scoliosis in survivors of large congenital diaphragmatic hernia (CDH) defect (Gore-Tex patch reconstruction) with survivors with smaller defects and primary reconstruction. MATERIALS AND METHODS: An anthropometric study of 53 children who underwent CDH repair in neonatal period was carried out. Weight, height, and skin-fold thickness were measured, scoliosis and chest wall deformity were evaluated. Body mass index (BMI) and thoracic index (TI) were calculated using standard rules. The measured data were compared with national population standard with the use of standard deviation score (SDS). According to the type of diaphragmatic reconstruction, the patients were divided into two groups [Gore-Tex patch (10) versus primary repair (43)]. Student t test and Fisher exact tests were used for statistical analysis. RESULTS: Pectus excavatum was found in 25 (47%) patients, poor posture in 33% and significant scoliosis in 5%. Compared with the population norm, CDH children had a significantly lower body height SDS (mean -0.39, p < 0.05), weight SDS (mean -0.75, p < 0.001), BMI (mean SDS -0.68, p < 0.001) and lower TI (mean SDS -0.62, p < 0.01). Gore-Tex versus primary repair group significantly differed in incidence of pectus excavatum and BMI (PE: p = 0.027, BMI SDS: p = 0.016). A majority of anthropometric parameters (weight, height, thoracic index, and thorax circumference) and incidence of scoliosis and poor posture in children after Gore-Tex patch reconstruction did not significantly differ from children after primary repair. CONCLUSION: The differences in some anthropometric parameters (weight, BMI, and TI) and in the skeletal deformity suggest that the CDH not only disturbs normal lung growth, but also seems to have implications on some other aspects of somatic development. Whether these changes could be related to the type of diaphragmatic reconstruction or rather to the size of the defect remains uncertain.

[Psychomotor and cognitive development of children born after intracytoplasmic sperm injection]. / Psychomotorický a kognitivní vývoj detí narozených po mimotelním oplodnení metodou intracytoplazmatické injekce spermie.

OBJECTIVE: To analyse data on psychomotor and cognitive development of children born after intracytoplasmic sperm injection (ICSI). DESIGN: Open cross-section clinical study. SETTING: Institute for the Care of Mother and Child, Prague and Department of Paediatrics, Charles University, 2nd Medical School and University Hospital Motol, Prague. METHODS: In 133 children (75 boys and 58 girls) psychological examination was made at the age range 11 months - 8.5 years in the years 2004-2006. All children were born after intracytoplasmic sperm injection (ICSI). Psychomotor development of children aged from 11 months to 3.5 years was assessed using the Bayley Scales (BSID-II). In older children, Global Intelligence McCarthy Test was used. RESULTS: In our sample of ICSI-children, no significantly higher incidence of children delayed in mental (cognitive) as well as in motor development has been found as compared with the population norms. However, the results indicate a significantly lower average value of the Psychomotor Developmental Index (PDI) in the group of younger children as compared with the given norm (92.3 +/- 13.9 versus 100 +/- 15; p<0.01). In the group of older children, lower average value of the General Cognitive Index (GCI), as compared with corrected population norm has been found (105.1 +/- 14.7 versus 110 +/- 16; p<0.05). In the group of twins, a significantly higher number of mild developmental disorders was ascertained on the contrary in the group of singletons (64.7% versus 333%; p<0.01) in our older children conceived by ICSI. CONCLUSION: The results indicate only mild lowering of some performances in our ICSI-children: in motor domain in younger children, and in cognitive domain in older children. Children from multiple pregnancies are at greater developmental risk than singletons.

[Parental attitudes and socio-emotional development in children born after ICSI]. / Rodicovské postoje a socioemocní vývoj detí pocatých po ICSI.

OBJECTIVE: To analyze parental attitudes and socio-emotional development of children conceived by ICSI. DESIGN: Open cross-sectional study. SETTING: Department of Clinical Psychology, Thomayer University Hospital, Prague and Department of Paediatrics, Charles University, 2nd Medical School, University Hospital-Motol, Prague. METHODS: 133 children (75 boys, 58 girls) conceived by ICSI, age ranged from 11 months to 8.5 years were psychologically assessed between the years 2004-2006. Children's behavior was evaluated by 4 rating scales during the assessment. Parents answered questionnaires concerning children's temperament, behavioral problems (TBC) and the parental attitudes questionnaire (PARQ). RESULTS: Children's behavior during the psychological assessment was rated mostly as very good or good, although the children were often less communicative. Most of the children have mixed or easy temperament, a difficult type of temperament didn't report any of the parents. Most of the parents didn't describe significant behavioral problems in their children, in particular there were very few externalizing difficulties (opposition, aggression), but in 29.5% of the sample, there were found some social or emotional difficulties. We found surprisingly high frequency of milder forms of autism spectrum disorders and another social problems (social and other anxiety disorders) in the sample, other psychopathology was rare. Parental attitudes had a tendency to grater involvement with the child and high affection in relation with him. CONCLUSION: Socio-emotional development of ICSI children is good, although some have specific social difficulties, externalising problems were present only exceptionally. Parental attitudes toward ICSI children are positive, there is slight tendency to higher emotional involvement with the child.

[Children born after intracytoplasmic sperm injection (ICSI): factors of infertility, pregnancy complications, neonatal period and neonatal characteristics]. / Deti narozené po intracytoplazmatické injekci spermie: faktory neplodnosti, prubeh tehotenství a porodu, perinatální období.

OBJECTIVE: To analyze the type of infertility, pregnancy and neonatal outcome in children conceived after intracytoplasmic sperm injection (ICSI children). DESIGN: Prospective open cross-sectional clinical study. SETTING: University hospital and private IVF unit. METHODS: Type of infertility, pregnancy complications, neonatal period and neonatal characteristics were evaluated in 135 newborns conceived after ICSI from singleton and twin pregnancies and compared to general population. RESULTS: The percentage of twins was significantly higher after ICSI compared to general population (31% versus 1.7%; p<0.001) as well as the percentage of caesarean section deliveries (31% versus 17.8%; p<0.001). Some complication in neonatal period was found in 21.5% ICSI newborns (18 out of 42 twins and 12 out of 93 singletons; p< 0.001). Some complication during the course of pregnancy was found in 50.9% ICSI children. CONCLUSIONS: no differences in gestational age, birth weight and birth length were found when ICSI and spontaneously conceined (sc) singletons and ICSI and SC twins were compared. However, complications during the course of pregnancy and in the neonatal period were more frequent in ICSI conceived children.

[Birth defects, medical outcome and somatic development in children conceived after intracytoplasmic sperm injection (ICSI)]. / Vrozené vývojové vady, zdravotní stav a somatický vývoj detí narozených po intracytoplazmatické injekci spermie.

OBJECTIVE: To analyze the incidence of birth defects, medical outcome and somatic development in children conceived after intracytoplasmic sperm injection (ICSI). DESIGN: Prospective open cross-sectional clinical study. SETTING: University hospital and private IVF unit. METHODS: 135 Czech children (59 girls, 76 boys) from singleton and twin pregnancies conceived after ICSI (age 03-9.5 years; median 5.9) were assessed during the period 2004-2006. The incidence of birth defects, medical outcome and somatic development were evaluated and compared with data of general population and/or with control group matched for sex and age. RESULTS: Birth defects were found in 133% of ICSI children (compared to 4.6% in children after spontaneous conception; p<0.001). The general health of ICSI children did not differ significantly compared to general population. ICSI children required more surgery or hospitalization compared to general population data. There is high rate (69.6%) among ICSI children in the care of various specialised clinics. Body height and weight in ICSI children is in normal range and corresponds to their growth potential. Head circumference in ICSI children is larger compared to reference data (0.43 SD; p<0.001). CONCLUSIONS: No clinically important differences in somatic development between ICSI and general population of Czech children were found. Birth defects were more frequent in ICSI children. The overall general health in ICSI children seems satisfactory but ICSI children were more likely to need health care compared to general population.

[Hormonal suppression and sexual development in children with central precocious puberty in the first treatment cycle 12 weeks after injection of triptoreline 11.25 mg (Diphereline S. R. 11.25 mg): a pilot study]. / Hormonální suprese a pohlavní vývoj detí s centrální predcasnou pubertou v prvním lécebném cyklu 12 týdnu po injekci triptorelinu 11.25 mg (Diphereline S. R. 11.25 mg): pilotní studie.

OBJECTIVE: To evaluate hormonal suppression and pubertal development in children with central precocious puberty (CPP) after injection of triptoreline 11.25 mg (Diphereline S. R. 11.25 mg; Ipsen) in the first treatment cycle of 12 weeks. DESIGN: Pilot study. SETTING: Paediatric department, University Hospital Motol-Prague. METHODS: Serum levels of FSHmax and LHmax and basal levels of estradiol/testosterone were monitored in GnRH test before, 4, 8 and 12 weeks after triptoreline 11.25 mg injection in 3 girls and 2 boys with CPP (age 3.9-10.6 years) previously treated by triptoreline 3 mg every 4 weeks. Uterine and ovarian volume, hormonal cytology (vaginal smear), breast development and testicular volume were evaluated before and 12 weeks after triptoreline 11.25 mg injection. RESULTS: 8 weeks after triptoreline 11.25 mg, FSHmax in girls increased (2.3 IU/l vs. 1.7 IU/l before injection; median) without any other change in 12th week. In boys after initial decrease LHmax 12 weeks after injection rose to 1.7 IU/l (identical as LHmax before injection). Estradiol and testosterone levels were in prepubertal range. Pubertal development in girls did not progress, and testicular volume decreased in both boys (treated for CPP 0.3 and 0.7 years). CONCLUSIONS: Triptoreline 11.25 mg injection in 12 weeks interval can be considered as effective, useful and safe for therapy of CPP. The long-term follow-up will be necessary.

[Growth and development in untreated girls with slowly progressing idiopathic central or borderline-onset puberty]. / Rust a vývoj nelécených dívek s pomalou progresí idiopatické centrální predcasné nebo hranicne nastupující puberty.

OBJECTIVE: To analyse growth and development of girls with slowly progressive idiopathic precocious or early puberty. DESIGN: Long-term open clinical study. SETTING: Department of Obstetrics and Gynaecology, Second Faculty of Medicine, Charles University, Prague. METHODS: In 20 untreated girls with slowly progressive puberty starting at 6-9 years neurogenic aetiology was excluded. During follow-up period 4.7 +/- 2.2 (2-8.5) years (mean +/- SD; range), sexual development (Tanner criteria), age at menarche, menstrual cycle and auxological parameters were evaluated. RESULTS: 13 girls reached menarche at 11.1 +/- 0.9 years (3.7 +/- 1.1 years after the onset of puberty), earlier than in their mothers (12.9 +/- 1.1 years) and Czech standards (P < 0.05). Menstrual cycle 28 (24-29) days was regular in all 6 girls with gynaecological age > 2 years. In one girl microprolactinoma was diagnosed, therapy with bromocryptine started at the age 14.7 years (3.5 years after menarche). At the onset of follow-up, bone age (TW20) advancement was 1.8 +/- 1.4 years above the chronologic age. Initial prediction of final height (graphic method) was 162.3 +/- 5.5 cm vs final prediction 163.7 +/- 5.1 cm. Final height 162.2 +/- 5.7 cm achieved 7 girls vs target height 163.6 +/- 5.2 cm (NS). CONCLUSION: In untreated girls, menarche occurred later after the first signs of puberty than in normal population, menstrual cycle was regular. Height potential was preserved, final height corresponded with their target height. Not all girls with early and slowly progressive puberty should be treated. Therapy is necessary in organic aetiology, rapid progressive precocious puberty and impaired growth prognosis.

[Effect of estrogens on final body height in girls with a constitutionally tall stature--risk or benefit?]. / Ovlivnení definitivní telesné výsky estrogeny u dívek s konstitucne vysokým vzrustem--rizika nebo prínos?

OBJECTIVE: Investigation of the effect of a long-term oestrogen treatment on the growth and development of children, elaboration of a theoretical model for remaining growth of girls on a long-term oestrogen therapy predicting reduction of the final height in girls with constitutionally tall stature, analysis of early and late side-effects of therapy. TYPE OF STUDY: Open clinical study. NAME AND PLACE OF DEPARTMENT: Endocrine out-patient clinic of the Second Paediatric Department and gynaecological out-patient clinic for children and adolescents of the Gynaecological-Obstetric Department, Second Medical School--Charles University and University Hospital Prague--Motol. METHOD: Elaboration of theoretical model for remaining growth of girls on a long-term oestrogen therapy was based on an analysis of the remaining growth of upper and lower body segment of healthy Czech girls. RESULTS: The extent of assumed reduction of the final height in girls with constitutionally tall stature treated with oestrogen declines with advancing age at the onset of treatment. The optimal age for the onset of treatment is between 10 and 11 years. CONCLUSION: Treatment can be recommended only in girls with growth prediction above 185 cm and serious psychological difficulties resulting from excessive height, always after careful analysis of the biological development and growth prediction. In every case it is necessary to evaluate the possible benefit of treatment in relation to potential risks. The greatest problem is according to the authors late onset and overrating of the therapeutic possibilities.

Longitudinal follow-up of children after surgical treatment of scaphocephaly.

78 patients underwent surgery for scaphocephaly at the mean age of 1.2 (0.2-14.7) years in Faculty Hospital Motol in Prague. All operated children ("free bone flap" technique) have been longitudinally followed-up by the same neurosurgeon and by the same anthropologist. Non-invasive direct cephalometry has been an inevitable part of diagnostics, surgical treatment indication, postoperative follow-up and evaluation of the outcome of the treatment. Better cosmetic results in children operated before one year of age (the change of index cephalicus 6.5 units) in comparison with those treated later (3.7 units) is demonstrated (p = 0.02).

[Prediction of body height and shortening of the lower part of the body in adults with achondroplasia]. / Predikce telesné výsky a zkrácení dolního segmentu tela v dospelosti u achondroplazie.

The authors present the method of predicting the body height of patients with achondroplasia in adulthood and the method of predicting shortening of the lower segment of the body as compared to the trunk. They evaluate a group of 12 patients with achondroplasia at the age from 3 to 17 years. They compare the growth curves of patients with normal Czechoslovak population and with a group of American patients suffering with achondroplasia. The application of growth curves of American patients with achondroplasia appears to be the most suitable and simple graphical method for the prediction of the body height of the Czechoslovak patients suffering from achondroplasia. The method of the prediction of dwarfism of the lower segment of the body has been developed for the purpose of the rational indication of the stepwise prolongation therapy by the compression-distraction method. Analogically it will be possible to verify the growth curves for some other bone dysplasiae presented in literature and predict dwarfism of the lower segment of the body in adulthood, e.g. in hypochondroplasia, metaphyseal chondrodysplasia of the type of Schmid, Turner syndromes, etc.

[Growth and adult height in patients with congenital adrenal hyperplasia]. / Rust a dospelá výska u pacientu s kongenitální adrenální hyperplazií.

BACKGROUND: The growth of children with congenital adrenal hyperplasia (CAH) can be impaired by overproduction of endogenous androgens which after the initial growth acceleration lead to early ossification of the growth plates and a low adult height, and by excessive glucocorticoid treatment as the latter antagonize the effect of growth hormone and cause growth retardation. In order to identify the life period decisive for the adult height of patients with CAH the authors analyzed retrospectively their growth data. METHODS AND RESULTS: In 35 children with 21-hydroxylase deficiency (24 girls, age 4.8 - 22.3 years and 11 boys, age 6.3 - 22.3 years) the height and bone maturation was evaluated at the age of 3, 7, 10 and 12 years and the adult height. In all girls and in 5/11 boys treatment of CAH was started at the age of 0.0 - 1.5 years (median 0.1) (early diagnosis), in 6/11 boys at the age of 4.5 - 7.0 years (median 5.2) (late diagnosis). In children with an early diagnosis growth retardation by the age of 3 years occurred (SDS of the girls' height' -1.4 +/- 0.2, n = 24, boys -0.7 +/- 0.4, n = 5). The height deficit in girls at the age of 3 predicted significantly the loss of adult height, as compared with the expected height in the family (r = 0.68, p = 0.02). By the age of 7 years the height deficit declined insignificantly (SDS of girls' height -1.0 +/- 0.2, n = 21), but bone maturation proceeded rapidly (3 years: SDS 0.1 +/- 0.4, n = 7, 7 years: SDS 1.4 +/- 0.5, n = 11). The adult height of girls (n = 12) is 147.0 - 162.5 cm (mean 156.7), i.e. -1.6 +/- 0.2 SDS, in early diagnosed boys (n = 4) 159 - 176.6 cm (mean 167.6), i.e. -1.7 +/- 0.5 SDS, in boys with a late diagnosis (n =4) 165.0 - 172.0 (mean 169.5), i.e. -1.5 +/- 0.3 SDS. CONCLUSIONS: In treated children with CAH growth retardation occurs already from the age of 3 years, apparently due to excessive glucocorticoid doses. This retardation predicts a loss of adult height. Between the age of 3 and 7 years the growth prognosis deteriorates further due to accelerated bone maturation resulting from inadequate suppression of androgens. Optimal treatment during these periods in life can improve the prerequisites for attaining the predicted adult height.

[Growth hormone therapy in children with growth hormone deficiency: study of dose-response relationship]. / Lécba rustovým hormonem u detí s jeho deficitem: studie vztahu dávky a úcinku.

BACKGROUND: Despite different age, stature, severity of hormone deficiency and target height children with growth hormone deficiency are usually given a uniform therapeutic dose of the preparation. Knowledge of the basic variables which influence individual therapeutic effects of growth hormone would make it possible to elaborate for individual patients a specific therapeutic strategy with the aim to cath up with the deficiency in height at an appropriate calendar age. METHODS AND RESULTS: The authors treated for a period of one year, using three different dosages of growth hormone, 25 prepubertal children with growth hormone deficiency (post-stimulation level < 8 mIU/l). Group A (9 children aged 11.2 +/- 2.0 years) were treated with 0.42 IU/kg/week, group B (7 children, aged 11.4 +/- 4.6 years) 0.7 IU/kg/week and group C (9 children, aged 10.2 +/- 2.4 years) 1.0 IU/kg/week. The preparation was administered daily before bedtime by the s.c. route. The growth rate during treatment increased from (mean +/- SD) 2.6 +/- 0.9 to 9.3 +/- 1.5 cm/year (group A), from 2.3 +/- 1.0 to 10.4 +/- 2.5 cm/year (group B) and from 3.1 +/- 0.7 to 12.6 +/- 1.9 cm/year (group C, p < 0.05 as compared with group A). The height age increased per year of treatment significantly more in children of group C (by 2.1 +/- 0.3 year) than in group A (by 1.6 +/- 0.3 year) or in group B (by 1.7 +/- 0.3 year). No difference was found between the groups in the ratio of changes in height and bone age. From 10 analyzed variables the growth rate during treatment is predicted above all by the therapeutic dose (r = 0.60), and to a lesser extent by the target height (r = 0.53). CONCLUSIONS: The therapeutic dose is the decisive parameter for prediction of the therapeutic effect of growth hormone in children with growth hormone deficiency. It is justified to modify the therapeutic dose individually with regard to the initial characteristic and therapeutic target of every given patient.

[Differential diagnosis in children with small stature]. / Diferenciální diagnostika u detí s malým vzrustem.

BACKGROUND: Physiological growth is a sensitive long-term indicator of child health. Impaired growth of children may be the first manifestation of a serious chronic disease. In order to find a rational examination procedure, the authors analyzed retrospectively the diagnosis in children with impaired growth who were referred for examination to the university hospital. METHODS AND RESULTS: In the course of 5.5 years 190 children (boys/girls, 124/66) with short stature, age 2.5 to 16.5 years were examined. In 93 (68/25, 48.9%) the condition was classified as short-normal, i.e. short but healthy, incl. 25 (11/14, 13.2%) with familial short stature, in 26 (21/5, 13.7%) constitutional growth retardation (and retarded puberty) and in 42 (36/6, 22.1%) a combination of the two conditions. In 97 children (56/41, 51.1%) a pathological condition was found: in 14 girls (7.4%) Turner's syndrome, in 55 children (37/18, 29.0%) deficiency of growth hormone, incl. 11 as a results of a tumour or anomaly of the CNS, and in 28 children (19/9, 14.7%) another serious cause of a growth disorder. In three families the authors detected an autosomal dominant disorder in a parent-child pair, the parent not being aware of the disorder (renal tubular acidosis, vitamin D resistant rickets, hypochondroplasia). Based on analysis of these data the authors suggest a rational differential diagnostic procedure in children with short stature. CONCLUSIONS: The stepwise examination of children with short stature is based on the unequivocal differentiation of short-normal children and assessment of the cause of the growth disorder in the other affected children. The procedure is focused on a sparing, rapid and accurate diagnosis with subsequent early treatment of children with a serious pathological condition.

[The effect of treatment on growth in children with central precocious puberty]. / Vliv lécby na rust detí s centrální predcasnou pubertou.

BACKGROUND: Modern treatment of central precocious puberty (CPP) by agonist analogues of gonadoliberin (aGnRH) block the development of secondary sex characteristics, it delays bone maturation and improves the prospects of reaching optimal height. The objective of the present study was to compare the effect of formerly used treatment with synthetic progestin, Cyproterone acetate (Androcur, Schering), with contemporary treatment using aGnRH Triptoreline (D-Trp-6-LHRH, Decapeptyl depot, Ferring) on growth parameters of female patients. METHODS AND RESULTS: The authors treated 12 girls with CPP. The first group comprised 7 girls treated solely with Cyproterone acetate (first signs of CPP at the age of 4.9 +/- 1.8 years, onset of study at calendar age (CA) 7.1 +/- 1.3 years, bone age (BA) 10.2 +/- 1.3 years, follow-up period 1.8 +/- 0.8 years). The second group was formed by five girls originally treated for a period of 1.8 +/- 1.7 years (4-56 months) with Cyproterone acetate and subsequently with Triptoreline for a period of 1.5 +/- 0.3 years. The latter group developed signs of CPP at the age of 4.9 +/- 2.6 years. At the onset of Triptoreline treatment and thus at the onset of the study the girls' age was 7.4 +/- 0.7 years and BA 9.6 +/- 1.9 years. Secondary sex characteristics did not progress in either of the investigated groups during the study period. The authors observed in both groups before the investigation an acceleration of BA per calendar year (dBA/CA) of 1.5 +/- 0.6 SD (p < 0.01), as compared with standards of the healthy population. In the course of the investigation in the first group dBA/CA of 1.4 +/- 0.6 years (p < 0.01) persisted, in the second group a decline of dBA/CA to a normal level occurred (0.9 +/- 0.4 years). The growth rate in the two groups did not differ during the investigation from standards for the healthy population. Height in relation to bone age (BH/BA SDS) declined in the first group during the investigation from -1.8 +/- 0.9 SDS to -2.2 +/- 1.0 SDS (p = 0.06). In the second group this indicator did not change. CONCLUSIONS: During Triptoreline treatment, as compared with Cyproterone acetate treatment, in patients with CPP the rate of bone maturation declined to normal and their height in relation to bone age did not decline. This led to the assumption of a smaller future adult height loss in patients treated with aGnRH Triptoreline.

[Cystic fibrosis--a disease of adolescents and adults?]. / Cystická fibróza--nemoc dospívajících a dospelých?

BACKGROUND: Cystic fibrosis (CF) is no longer a childhood disease. Since the identification of the gene in 1989 research has made advances and changed views on the pathogenesis, diagnosis and treatment. The objective of the present work is to make doctors treating adult patients familiar with modern therapeutic methods and their value. METHODS AND RESULTS: In the CF Centre of the Faculty Hospital in Prague Motol 349 patients are followed up on a long-term basis, incl. 95 who died since 1985. Hundred and twenty six (36.1%) patients survived to the age of 18 years, of those 41 died and 85 patients live. Comparison of semilongitudinal data of a group of 83 patients born before 1975 whose treatment during childhood and puberty was inadequate and 196 patients born in 1976-90 treated by modern methods proved the great effect of treatment on the course and prognosis of the disease. The median age at death increased during from 12.2 years in 1985-90 to 18.8 years in 1991-1998 (p = 0.004). The nutritional status of adult patients is satisfactory in 40.4%, poor in 33.3% and marginal in 26.3%. A normal pulmonary function was recorded in 17.5%, 22.8% are severely affected, the majority of patients (59.7%) has values within 40 to 80% of normal levels. CONCLUSIONS: Modern intensive treatment improved the prognosis and quality of live in patients with CF. Critical deterioration of the clinical condition shifted to the threshold of adult age. It is therefore essential that doctors treating such patients should be familiar with this issue.

[Late sequelae of comprehensive antineoplastic therapy in children and adolescents with solid extracranial tumors. Effect on growth, pubertal development and gonadal function]. / Pozdní následky komplexní protinádorové lécby u detí a mladistvých s extrakraniálními solidními nádory. Vliv na rust, pubertální vývoj a funkci gonád.

BACKGROUND: Modern treatment of oncological diseases increases markedly the chance of long-term survival and permanent recovery. Due to frequently highly aggressive treatment it is however associated with the risk of late sequelae in the surviving patients. Comprehensive care of patients includes therefore not only control of the neoplastic disease but also efforts of maximal improvement of the quality of life of the patients. In young subjects, in view of their long-term perspective, this problem is particularly important. METHODS AND RESULTS: In 32 patients (25 boys and 7 girls) with extracranial solid tumours without primary endocrinological symptomatology (m. Hodgkin, neuroblastoma, ganglioneuroblastoma, nephroblastoma, Ewings sarcoma and others) a single examination was made assessing height, body weight, grade of sexual maturation according to Tanner, in boys testicular volume by means of a orchidometer and 20 other anthropometric dimensions. The mean age at the time of examination was 16.5 +/- 4.1 years, the mean age at the onset of treatment 6.1 +/- 4.8 years. The patients height, -0.4 +/- 0.9 SD, differs from the Czech national standard (p = 0.025). Impaired growth was recorded in 12.5% patients and had heterogenous causes. The authors proved a negative effect of radiotherapy on the growth of the spine, most markedly in children subjected to irradiation of the abdomen and chest and a highly significant reduction of the testicular volume in boys after cytostatic treatment of m. Hodgkin. CONCLUSIONS: The results are consistent with studies made abroad and indicate the necessity of comprehensive long-term follow-up of somatic growth and development of the gonads in oncological child patients.

[Growth in children with the exudative enteropathy syndrome due to a congenital heart defect--cor triatriatum dextrum]. / Rust u dítete se syndromem exsudativní enteropatie na podklade vrozené srdecní vady--cor triatriatum dextrum.

Retarded growth in a child can be the sign of serious chronic disease. The authors present an account of a six-year-old boy where growth retardation persisted at least from the age of three. During this period his height dropped from the zone between the 25th and 50th percentile into the zone between the 3rd and 10th percentile. From the clinical point of view a large abdomen, loose stools and hypocalcaemia with tetany were striking, as they were moreover refractory to vitamin D2, calcitriol and calcium administration by the oral route. The authors revealed severe hypoproteinaemia, a 150 times increased value of alpha-1-antitrypsin in faeces, and exudative enteropathy syndrome was diagnosed. The cause was venous congestion due to a rare heart disease--cor triatriatum dextrum. The septum in the right atrium was resected. Immediately after surgery the consistency and frequency of stool decreased. Calcaemia and plasma protein levels reached normal levels within two months. A growth spurt of 11 cm/year followed. Fifteen months after operation the patient's height reached almost the 50th percentile.