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Biomedical subjects

W Kiess

Publications and source records attributed to W Kiess.

At least 37 records · Page 2Linked to original sources
PubMed2005

A new heterozygous mutation of the FOXL2 gene is associated with a large ovarian cyst and ovarian dysfunction in an adolescent girl with blepharophimosis/ptosis/epicanthus inversus syndrome.

Blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), an autosomal dominant syndrome in which eyelid malformation is associated with (type I BPES) or without premature ovarian failure (type II BPES). Mutations of a putative winged helix/forkhead transcription factor FOXL2 account for both types of BPES. We report on a 16-year-old adolescent girl with blepharophimosis and ptosis. Subsequently she developed oligomenorrhea, secondary amenorrhea for 6 months, and an extremely large cyst of one ovary. The cyst contained 8 l of cyst fluid and histopathology displayed a large corpus luteum cyst. Following laparotomy, gonadotropin levels were elevated (LH 17.2 U/l, FSH 29.4 U/l) and estradiol levels decreased (67 pmol/l). Because of clinical aspects of BPES and abnormal ovarian function we suspected a mutation of her FOXL2 gene and found a new in-frame mutation (904_939dup36) on one allele, leading to a 12 alanine expansion within the polyalanine domain. We conclude that the FOXL2 mutation 904_939dup36 may account not only for blepharophimosis and ptosis but also for ovarian dysfunction and growth of the large corpus luteum cyst. In contrast to known FOXL2 mutations with polyalanine expansions and association with BPES type II, clinical aspects of our girl may indicate some degree of ovarian dysfunction that might finally lead to BPES type I with premature ovarian failure.

Adolescent↗
PubMed2004

[Epidemiology, treatment and prevention of type 2 diabetes in children and adolescents].

Changes in food consumption and exercise are fueling a worldwide increase in obesity in children and adolescents. As a consequence of this dramatic development an increasing rate of type 2 diabetes can be observed in children and adolescents in many countries. Development of strategies for therapy of type 2 diabetes and implementation of prevention of obesity and type 2 diabetes in this age group should be primary health care goals.

Adolescent↗
PubMed2004

Insulin sensitivity and secretion in normal children related to size at birth, postnatal growth, and plasma insulin-like growth factor-I levels.

AIMS/HYPOTHESIS: Type 2 diabetes risk is associated with low birth weight, rapid weight gain during childhood, and shorter stature and lower circulating IGF-I levels in adults. The largest variations in growth rates occur during the first postnatal years. We hypothesised that early postnatal variations in height and weight gain and IGF-I levels may be associated with risk markers for adult disease. METHODS: We measured the fasting insulin sensitivity (Homeostasis model) and insulin secretion post-oral glucose (insulinogenic index 0-30 min) in 851 normal 8-year-old children from a prospective birth cohort. We examined associations between size at birth, postnatal weight gain and circulating IGF-I levels with insulin sensitivity and secretion at 8 years of age. RESULTS: Fasting insulin sensitivity at 8 years was closely related to current BMI (r= -0.33, p<0.0005). Lower insulin sensitivity and higher BMI and waist circumference were all predicted by greater weight gain between birth to 3 years of age (all p<0.0005); lower birth weight was associated with reduced insulin sensitivity only in the highest current BMI tertile ( r=0.17, p=0.006). In contrast, lower insulin secretion was related to smaller size at birth ( p=0.01), independent of postnatal weight gain and insulin sensitivity. Lower insulin secretion was also independently related to shorter stature at 8 years of age relative to parental height ( p=0.047) and with lower plasma IGF-I levels at 5 years of age ( n=252, p=0.004). CONCLUSIONS/INTERPRETATION: Associations between lower birth weight and insulin resistance may be dependent on rapid weight gain during the early postnatal years. However, irrespective of postnatal weight gain, smaller size at birth, lower IGF-I levels and lower childhood height predicted reduced compensatory insulin secretion.

Birth Weight↗
PubMed2004

Video-assisted gonadectomy in children with Ullrich Turner syndrome or 46,XY gonadal dysgenesis.

Patients with dysgenetic gonads carry a high risk for the development of gonadal neoplasia. The aim of the study is to evaluate indications and feasibility of laparoscopy and video-assisted prophylactic gonadectomy in children with Ullrich Turner syndrome (UTS) or 46,XY gonadal dysgenesis (GoDy). Between 1996 and December 2002 five girls with UTS and nine patients with 46,XY GoDy (female gender role) were explored by laparoscopy. Video-assisted salpingo-oophorectomy or gonadectomy was performed using a three-port technique. Prophylactic salpingo-oophorectomy was exclusively performed in UTS patients with proven presence of translocated parts of the Y chromosome. In three patients with 46,XY GoDy laparoscopy was followed by surgical revision of the groin and open gonadectomy in four patients. In two cases with UTS the removed streak gonads contained small unilateral tumours stage pT1a, and in four cases of 46, XY GoDy histopathological investigation revealed bilateral neoplasms stage pT1b. We found the following tumour types: gonadoblastoma, dysgerminoma, testicular intraepithelial neoplasia, and mature teratoma. In conclusion, investigative laparoscopy gives a good image of the internal genital structures and allows the safe removal of the dysgenetic gonads during the same operation. The high rate of gonadal tumours underlines the indication for early gonadectomy in these patients.

Adolescent↗
PubMed2004

Priming with testosterone enhances stimulated growth hormone secretion in boys with delayed puberty.

BACKGROUND AND OBJECTIVE: Tests for growth hormone (GH) deficiency are not always helpful in the differential diagnosis of physiological delay of growth and puberty and GH deficiency. PATIENTS AND METHODS: To enhance diagnostic specificity, we used a single dose testosterone priming before repeating the arginine stimulation test in 26 boys with short stature and only early signs of puberty who failed to show an adequate response of serum GH in the first test. RESULTS: 77% (20/26 patients) increased their serum GH peak to more than 10 ng/ml, whereas six patients were still below this concentration. CONCLUSION: We propose that testosterone priming is a useful tool to distinguish between physiological delay of growth and puberty and GH deficiency and should be included in the diagnostic procedure.

Adolescent↗
PubMed2004

Addison's crisis in adolescent patients with previously diagnosed diabetes mellitus as manifestation of polyglandular autoimmune syndrome type II--report of two patients.

We report on two female adolescents--both diagnosed with type 1 diabetes mellitus in early childhood--who presented with signs of severe metabolic decompensation. In both cases recompensation was difficult, and during the stay in hospital increasing discoloration of palmar creases was observed. ACTH testing demonstrated cortisol deficiency in both patients. In addition, autoimmune thyroiditis was diagnosed in one patient. As a polyglandular autoimmune syndrome was suspected, autoantibody studies were performed and the presence of autoantibodies against thyroid and adrenal tissue was established. Polyglandular autoimmune syndrome (PGA) type II can lead to subsequent manifestation of deficiencies of several endocrine glands. Although PGA type II usually presents at a more advanced age, adolescents may also present with the full spectrum of the disease. Especially in the presence of Addison's disease, life-threatening situations can develop rapidly. Coloration of palmar skin creases of patients with known type I diabetes mellitus should serve as a warning sign to be followed up with investigation of endocrine functions.

Acute Disease↗
PubMed2004

Increased serum soluble leptin receptor levels in children and adolescents with type 1 diabetes mellitus.

OBJECTIVE: We investigated whether or not serum levels of the soluble leptin receptor (sOB-R) and leptin are related to anthropometric and metabolic changes during pubertal development of children and adolescents with type 1 diabetes mellitus. DESIGN AND METHODS: Blood levels of sOB-R, leptin and HbA1C, as well as body-mass index (BMI), diabetes duration and daily insulin doses, were determined in 212 (97 girls; 115 boys) children with type 1 diabetes mellitus and compared with the sOB-R serum levels in 526 healthy children and adolescents. RESULTS: OB-R serum levels and parallel values of the molar ratio between sOB-R and leptin were significantly higher in children with diabetes than in normal children (P<0.05) in almost all investigated Tanner stages. Furthermore, in the entire group of patients, we demonstrated statistically significant correlations (P<0.02) between sOB-R and the duration of diabetes (r=0.30), HbA1c levels (r=0.32) and the insulin dose (r=0.18). Multiple-regression analysis revealed that HbA1c (12.4%), height (7.9%) and duration of diabetes (8.7%) contributed to 29% variance of sOB-R in diabetic children. CONCLUSIONS: Our data suggest that poor glycemic control in diabetes may lead to increased serum levels of sOB-R. This regulation of sOB-R appears to be independent of leptin, but may have an impact on leptin action. The consequently developing molar excess of sOB-R related to leptin could reduce leptin sensitivity and may, therefore, influence leptin-related anthropometric and metabolic abnormalities.

Adolescent↗
PubMed2003

The soluble leptin receptor is crucial for leptin action: evidence from clinical and experimental data.

OBJECTIVE: The soluble leptin receptor (sOB-R) was recently identified as the main leptin-binding protein in human blood. The aim of our study was to elucidate the effects of physiologically relevant amounts of sOB-R on leptin-induced proliferation in a cell model. SUBJECTS AND MEASUREMENTS: To determine molar ratios between sOB-R and leptin in vivo, we measured both parameters in the serum of 529 healthy children and adolescents. For our in vitro cell model, mouse pre-B cells, transfected with the long form of the murine leptin receptor (BAF3/L46), were incubated with recombinant human leptin at two different basal levels (0.5 and 0.1 nM) and with the sOB-R at varying levels. The proliferative response of the cells was quantified by a (3)H-thymidine uptake assay. RESULTS: Significantly higher molar sOB-R/leptin ratios were observed during the first years of life, up to a 7.67-fold excess of sOB-R (quartiles: 4.43/10.27) in boys, compared to the states of prepuberty and puberty. An up to 10-fold molar excess of the sOB-R, reflecting the in vivo situation, resulted in a significant suppression of leptin action in the cell model. In contrast, gradually decreasing ratios of lower than two, as calculated during the progression of childhood and in early puberty, corresponded to proliferative rates in vitro as determined at basal leptin concentrations. CONCLUSION: At a distinct molar excess, sOB-R may suppress leptin action through inhibition of specific leptin binding to membrane-bound receptors in vitro. In vivo, sOB-R may further function to delay leptin clearance and increase the available leptin pool in the circulation. In the case of a massive excess of sOB-R, is it likely to be inhibitory to leptin interaction with the tissue membrane-bound OB-R.

Adolescent↗
PubMed2003

Obesity and blood pressure--results from the examination of 2365 schoolchildren in Germany.

OBJECTIVES: To investigate the relationship between different indices of body fat and blood pressure in children and adolescents. DESIGN: Cross-sectional cohort study along with regular public health service examinations in school classes two, five and nine. PARTICIPANTS: A total of 2365 healthy schoolchildren aged 8-16 y. MEASUREMENTS: Body mass index (BMI), skinfolds, waist-hip ratio, body fat determined by bioelectric impedance analysis and blood pressure. RESULTS: In comparison with recently published normative data, a significant increase of obesity was found. There is a higher prevalence of obesity in children with lower education. A positive association between body fat and hypertension was observed in children aged above 10 y. The BMI had the strongest association with blood pressure among the indices of body fat considered here. CONCLUSION: Obesity is an increasing problem even among schoolchildren. This observation should be treated seriously as the relationship of body fat to cardiovascular risk is detectable already at a young age. Attention should be paid to the dependence of obesity on the level of education. The analysis suggests that BMI should be the preferred index to assess body fat. International Journal of Obesity (2003) 27, 1459-1464. doi:10.1038/sj.ijo.0802462

Adipose Tissue↗
PubMed2003

IGFs, basic FGF, and glucose modulate proliferation and apoptosis induced by IFNgamma but not by IL-1beta in rat INS-1E beta-cells.

We investigated the effects of glucose and beta-cell growth factors (IGF-I, IGF-II, bFGF) on growth and apoptosis in the presence and absence of apoptosis inducing cytokines (IFNgamma, Il-1beta, TNFalpha). Rat INS-1E beta-cell viability was measured by WST-1 viability assay and cell counting, apoptosis by FACS analysis of annexin-V-FITC and fluorescein-dUTP (TUNEL-staining)-positive cells. Glucose alone maintained INS-1E beta-cell viability at high physiological concentrations (6.2-12.5 mmol/l), addition of IGF-II alone or in combination with bFGF further increased these glucose effects. The cytokines IFNg and IL-1beta, but not TNFalpha strongly induced INS-1E beta-cell apoptosis. Interestingly, glucose alone induced apoptosis at extremely low or very high concentrations. In combination with IFNg, low glucose (1.6 mmol/l) increased apoptosis by 25.6% (1SD 5.0%) and high glucose (50 mmol/l) by 22.8% (1SD 2.8%) compared to 12.5 mmol/l glucose. In contrast, glucose failed to modulate IL-1beta-induced apoptosis. Most importantly, IGF-II and bFGF inhibited apoptosis induced by IFNg, but not by IL-1beta. Therefore, IGF signaling, supported by bFGF and optimal glucose levels, maintains beta-cell viability in vitro. Cytokines IFNg and IL-1beta differentially interfere with intracellular signaling cascades stimulated by IGFs and bFGF or glucose, respectively.

Animals↗
PubMed2003

Histopathological parameters of Helicobacter pylori-associated gastritis in children and adolescents: comparison with findings in adults.

BACKGROUND: The pathohistological features of Helicobacter pylori-associated gastritis in children and adolescents are less well understood than they are in adults. The aim of the study was to compare histological parameters of H. pylori-infected children with those of adults. METHODS: The retrospective study compared histological features of 111 children (mean age 10.8 +/- 3.8). Three paediatric age groups were analysed and the findings were compared with those of 111 adults (mean age 64.2 +/- 12.1). Degree of chronicity and activity of inflammation, mucus depletion and regeneration of foveolar epithelium by regenerating epithelium and H. pylori colonization were scored in antral biopsies. RESULTS: The histological parameters in children, i.e. degree of chronicity, activity of gastritis and the summed gastritis score, were not significantly different compared to those in adults. Replacement of foveolar epithelium by regenerating epithelium was significantly larger in adults compared to that of paediatric patients. The rate of low-grade mucus depletion and of the strongest degree of H. pylori colonization was higher in children than in adults. Children with antral nodularity had significantly higher histological score values. CONCLUSION: The histological differences between paediatric patients and adults are focused on signs of chronic inflammation and regeneration. Our results imply that antral nodularity is an important sign of highest-grade gastritis, especially in young children.

Adolescent↗
PubMed2003

Type 2 diabetes mellitus in children and adolescents: a review from a European perspective.

Changes in food consumption and exercise are fueling a worldwide increase in obesity in children and adolescents. As a consequence of this dramatic development, an increasing rate of type 2 diabetes mellitus has been recorded in children and adolescents in the USA and, more recently, in many countries around the world. Both genetic and environmental factors contribute to the pathogenesis of type 2 diabetes. Lower susceptibility in white Caucasians and higher susceptibility in Asians, Hispanics and blacks have been noted. There is a high hidden prevalence and a lack of exact data on the epidemiology of the disease in Europe: in Germany only 70 patients below the age of 15 years were identified in the systematic, nationwide DPV (Diabetessoftware für prospektive Verlaufsdokumentation) diabetes survey, but our calculations suggest that more than 5000 young people in Germany at present would meet the diagnostic criteria of type 2 diabetes. In Australasia, the prevalence of type 2 diabetes is reportedly high in some ethnic groups and again is linked very closely to the obesity epidemic. No uniform and evidence-based treatment strategy is available: many groups use metformin, exercise programmes and nutritional education as a comprehensive approach to treat type 2 diabetes in childhood and adolescence. The lack of clear epidemiological data and a strong need for accepted treatment strategies point to the key role of preventive programmes. Prevention of obesity will help to counteract the emerging worldwide epidemic of type 2 diabetes in youth. Preventive programmes should focus on exercise training and reducing sedentary behaviour such as television viewing, encouraging healthy nutrition and supporting general education programmes since shorter school education is clearly associated with higher rates of obesity and hence the susceptibility of an individual to acquire type 2 diabetes.

Adipose Tissue↗
PubMed2003

Higher frequency of paronychia (nail bed infections) in pediatric and adolescent patients with type 1 diabetes mellitus than in non-diabetic peers.

OBJECTIVE: Paronychia occurs frequently in adolescents, but there are no data about its prevalence in adolescents with type 1 diabetes mellitus (DM1). We investigated the presence and characteristics of nail-bed infections in a group of adolescent patients with DM1 aged 10-20 years. METHODS: Ninety-three children and adolescents with DM1 and 100 healthy age-matched controls were studied using a structured questionnaire. Frequency, duration and treatment of paronychia and, in the DM1 group, duration of DM, mean HbA1c, frequency of hypoglycemia, footwear and foot care were evaluated. All patients with DM1 underwent a complete neurological examination including vibration perception, thermal perception, and light touch perception. RESULTS: Adolescents with DM1, particularly girls, had a higher frequency of paronychia than controls (34.4% vs 23%; p < 0.01). Diabetic patients with paronychia were older than those without and had a longer duration of DM1, while there was no difference in long-term HbA1c between the groups. Vibration perception was impaired in all regions measured, compared to healthy adolescents. Subclinical neuropathy and microalbuminuria was found to be more frequent in patients with paronychia than in those without. CONCLUSION: We conclude that foot examination is important and mandatory in adolescents with DM1.

Adolescent↗
PubMed2003

Association between the GH receptor/exon 3 genotype and the level of exon 3-positive GH-binding protein in human serum.

OBJECTIVE: The human GH-binding protein (GHBP) is derived from the GH receptor (GHR) through proteolytic cleavage of its extracellular domain. Two isoforms of the GHBP exist, differing in the retention or exclusion of exon 3: E3(+)GHBP and E3(-)GHBP. Our study aimed to answer the questions whether the level of E3(+)GHBP in the serum correlates with the GHR exon 3 expression and whether or not the E3 genotype matches the mRNA expression pattern. METHODS: Since exon 3 retention/deletion can be detected at the protein level using epitope-specific antibodies, we were able to quantify the two isoforms by means of specific immunoassays in a total of 37 individuals. Additionally, these persons were also genotyped for exon 3 by genomic PCR and tested for GHR exon 3 mRNA expression by RT-PCR. RESULTS: We found a significant correlation between GHR exon 3 genotype and the ratio of E3(+)GHBP and E3(-)GHBP in the serum. Moreover, the genotype matched exactly the mRNA expression in fibroblasts and/or blood leukocytes in all samples investigated. The levels of E3(+)GHBP are more strongly correlated with body mass index, proinsulin and C-peptide than the levels of the E3(-) isoform. CONCLUSIONS: Our results show that the GHR exon 3 genotype is in accord with the type of GHBP isoforms found in the serum. Our data thus support the idea that the presence of exon 3-retaining and -excluding GHR/GHBP isoforms results from a genomic deletion rather than from alternative splicing.

Adolescent↗
PubMed2003

Partial trisomy 22 resulting from rearrangements between chromosomes 11/22 and 16/22: a report of two cases.

UNLABELLED: Two male infants with partial trisomy 22 resulting from a rearrangement between chromosomes 11/22 and 16/22 were admitted to the Children's Hospital of the University of Leipzig within the space of two months. The characteristic phenotype of the infants is described and compared with the data on liveborn infants with trisomy 22, as reported in the literature. One of the infants reported here showed a prenatally detected hygroma colli. To the best of our knowledge this is the first description of a hygroma colli in this chromosomal disorder. CONCLUSION: Infants with trisomy 22 can present with variable phenotypes. It is important to bear the phenotype of chromosome 22 infants in mind.

Abnormalities, Multiple↗
PubMed2002

[Obesity in children and adolescents in Germany. Significant and persistent increase of prevalence. Appeal to treatment].

In Germany, the number of overweight children and adolescents is increasing. The increase in the prevalence of obesity shows considerable regional differences. Related to recent German reference data with an expected prevalence of 3%, we find today in some regions a prevalence of 7% in 5- to 6-year-olds and 8% in 13- to 15-year-olds. While the reasons for this development are not fully clear, it may be assumed that the increase in physical inactivity, together with the ready availability of an abundance of high-energy foods are significant contributing factors. A large percentage of children and adolescents suffering from obesity also have considerable co-morbidity. It is to be expected that this will in the future considerably increase the financial burden on public health care and society as a whole. Effective prevention and therapeutic countermeasures are necessary to deal with this problem.

Adolescent↗
PubMed2002

Different isoforms of the soluble leptin receptor in non-pregnant and pregnant mice.

Leptin circulates in murine serum in a free and a bound form. As shown in humans, a soluble leptin receptor (sOB-R), which modulates the effects of its ligand, circulates in murine blood. The aim of our study was to determine abundance and biochemical nature of this protein. For the quantification of sOB-R we developed a ligand-immunofunctional assay (LIFA) which is based on both, leptin binding and immunological recognition. The use of this LIFA revealed that during late gestation sera of pregnant mice had a approximately 290-fold higher level of sOB-R than non-pregnant animals. As investigated by size exclusion chromatography these mice sera demonstrated a co-elution of their leptin binding activity with leptin immunoreactivity and levels of sOB-R measured by LIFA. Therefore, it has to be concluded that sOB-R represents the major leptin binding activity in murine circulation. The molecular analysis of sOB-R by Western blot and by cross-linking with 125I-leptin in sera of pregnant and non-pregnant mice demonstrated two different isoforms of sOB-R, which were capable of leptin binding. The sOB-R in serum migrated at a molecular weight of 150kDa in pregnant and only of 120kDa in non-pregnant animals. Deglycosylation of these isoforms led to sOB-R molecules which were found at the same molecular weight in SDS-PAGE. This finding indicates that both isoforms differ only in the degree of their glycosylation. In conclusion, the non-pregnant and the pregnant states are accompanied by differently glycosylated isoforms of sOB-R whose physiological relevance remains to be determined.

Animals↗