Background: Junctional epidermolysis bullosa with pyloric atresia (JEB-PA) is a rare autosomal recessive disease with blister formation within the lamina lucida due to mutations in the integrin beta 4 (ITGB4) and alpha 6 (ITGA6) genes. Case report: A female preterm infant, first child of healthy non-consanguineous parents, was born at 26+4 weeks of gestation by caesarean section, following polyhydramnion and abruption of placenta. She presented with extensive areas of denuded skin on both lateral sides of the head, neck and extremities. Auricles were hypoplastic. Abdominal ultrasound and X-ray were suggestive of pyloric atresia which was revised surgically on the 4th day of life. Further course was complicated by progressive skin detachment, sepsis, and renal insufficiency with fatal outcome at 18 days of age. Immunofluorescence mapping of cryopreserved skin showed junctional cleft formation with negative staining for integrin alpha 6 and integrin beta 4. Mutational analysis disclosed compound heterozygosity for two novel nonsense mutations in the ITGB4 gene: c.600dupC/p.F201 fsX14 and c.2533C>T/p.Q845X. 2 subsequent pregnancies were terminated following prenatal diagnosis disclosing the same ITGB4 mutations, a 4th pregnancy was unaffected. Conclusion: We describe a case of lethal JEB-PA with negative immunoreactivity to integrin alpha 6 and integrin beta 4 predicting a poor outcome. Identification of compound heterozygosity for two novel ITGB4 mutations in the affected preterm infant permitted prenatal diagnosis and finally birth of a healthy sibling.

Accidental ingestion of foreign bodies is a common problem in infants and childhood, but ingestion of magnetic construction toys is very rare. In the case of ingestion of multiple parts of these magnetic construction toys, they may attract each other through the intestinal walls, causing pressure necrosis, perforation, fistula formation or intestinal obstruction. A 20-month-old boy presented with a three-day history of abdominal pain and bilious vomiting. Physical examination revealed a slighted distended abdomen. The -white blood cell count was increased, but the C-reactive protein was normal. Ultrasound and X-ray of the abdomen showed a distended bowel loop in the right upper quadrant, a moderate amount of free intraperitoneal liquid and 4 foreign bodies. Emergency laparotomy was performed and 2 perforations in the ileum were detected. The perforations were caused by a magnetic construction toy and 2 iron globes. The fourth foreign body was a glass marble. The foreign bodies were removed, both perforations were primarily sutured. The child was discharged on postoperative day 10 after an uneventful recovery. Parents should be warned against the potential dangers of children's constructions toys that contain these kinds of magnets.

The purpose of early medical or surgical treatment of boys with undescended testes is to prevent the development of infertility. However, early and successful surgery cannot prevent infertility in cryptorchid boys who lack type A dark (Ad) spermatogonia. The aim of this study was to compare the gene expression pattern of patients with completed transformation of gonocytes into Ad spermatogonia, associated with low infertility risk, with patients that had failed to undergo this process and had a high infertility risk. Genes expressed in the 16 cryptorchid testes were estimated using Affymetrix whole-genome microarray and compared to the expression profiles from four contralateral gonads of boys with unilateral testicular agenesis. Whole-genome expression profiling showed that boys in the high infertility risk group according to testicular histology, showed decreased or lack of expression of most of the genes essential for hypothalamo-pituitary-testicular axis function relative to low or intermediate risk group as well as controls. In particular, EGR4, which is involved in regulating the secretion of luteinizing hormone, was virtually not expressed. Thus, we found multiple differences in gene expression between the high and low infertility risk groups, confirming the importance of an intact hypothalamo-pituitary testicular axis and EGR4 in fertility development.

Background: Burns and scalds are among the most common traumas in childhood and more than often lead to hypertrophic scarring. Compression therapy is one of the main concepts in the prophylaxis and therapy for hypertrophic scars. However, the mode of action and the optimum value for pressure are still unknown. In this Study, we evaluated the possibility of measuring the pressure under compression garments with a simple pressure measuring device.Material and Methods: Pressure generation occurred by an air-filled balloon connected to a pie-zoresistive pressure sensor, which showed the pressure as a Value of voltage. Calibration was possible with p <= 0.001 from 5 to 50 mmHg.Results: With an overall average pressure of 26.0 +/- 8.5 mmHg, no body region showed significantly different pressures. Only the pressure values on the cheek were significantly lower with 12.3 +/- 1.3 mmHg, (p <= 0.01). Soft or hard tissue under the sensing balloon only showed a difference on p <= 0.05.Conclusion: We have developed a cheap (<100Euro) and simple technique to measure the pressure during compression therapy. Further studies with a larger number of patients will follow.

Background: Methods: Results: Conclusion:

BACKGROUND:Mesenchymal progenitor cells (MPCs or mesenchymal stem cells, MSC) have the capability for differentiation into various lineages of mesenchymal tissue. MPCs are widely distributed in a variety of tissues in the adult human body and also present in the fetal environment. However, MPCs are a rare population in these tissues. In this study we evaluated the possibility that MPCs or cells with MPC-like potency are present in the umbilical cord (UC).METHODS:Term UCs were collected and stored in sterile saline solution. The UCs (10 cm) were cut into 1 cm length, the vessels were striped manually and the tissue immersed in an enzyme cocktail for 3 h at 37 degrees C. The isolated umbilical cord mesenchymal progenitor cells (UCMPCs) were pelleted by low speed centrifugation, suspended and cultured.RESULTS:(1) Umbilical cord mesenchymal progenitor cells (UMPCs) could be isolated in sufficient quantities and (2) could be cultured easily. (3) These cells demonstrated a fibroblast-like phenotype. (4) They could be expanded in culture and induced to form several different types of cells. (5) In immunochemistry these cells express mesenchymal markers (CD 13, CD 105) but not haematopoetic lineage markers (CD 14 and CD 34).CONCLUSION:Our observation suggested that MPCs are present in human umbilical cord. Instead, it should be considered a valuable resource for the isolation of potent cells for cell-based therapies, especially in general and pediatric surgery.

Introduction: Diseases of the thyroid gland are one of the most common endocrinopathies in childhood. Neither benign nor malignant thyroid diseases are often treated surgically. But if surgical treatment is carried out, intraoperative damage of the recurrent laryngeal nerve (RLN) is a common and severe complication. In adult surgery, therefore, intraoperative monitoring (IOM) of the RLN is a method which has been used since several years. The question is whether this method can be used in paediatric surgery for the identification and functional control of the integrity of the RLN. Methods: Surgical treatment of benign (9 x) or malignant (1 x) thyroid diseases was performed in ten children (median age: 13 years) with 16 nerves at risk (NAR). The function of the vocal cord was controlled in all children before and after surgery. Intraoperative identification and functional control of the recurrent nerve was performed using the Neurosign 100(R), placing a needle electrode transligamentously into the vocal muscle. All results before and after resection were documented. Results: A clear and reliable identification of the RLN was possible in all cases. All NAR showed a constant physiological nerve signal before and after surgical resection of the thyroid gland. However in one young patient the postoperative control of the vocal cord revealed a partial paralysis despite the constant intraoperative signal of the RLN. The control on this patient after a period of six months showed a normal function. Conclusion: IOM of the RLN as used in adult surgery could easily be used in paediatric surgery as well. A clear and positive identification of the RLN was possible in all these patients. Therefore, IOM of the RLN could develop into a helpful and easy method for the prevention of intraoperative damage of the recurrent laryngeal nerve during thyroid surgery in childhood.

Background: Intraoperative damage of the recurrent laryngeal nerve (RLN) and the external branch of the superior laryngeal nerve (EBSLN) are common and cause complications in thyroid surgery. The method of intraoperative electrophysiological neuromonitoring (IONM) of the RLN and the EBSLN has been used in adults for several years. The question is whether IONM can be used in paediatric surgery for the identification and functional control of the RLN and the EBSLN, and what the advantages and disadvantages of using it are. Methods: Surgical treatment of benign (n = 9) and malign (n = 2) thyroid diseases was carried out in eleven children (median age: 13 years) with a total of 18 nerves at risk (NAR). The function of the vocal cord was monitored in all children before and after surgery. Intraoperative identification and functional control of RLN and EBSLN was performed using the Neurosign 100 (R). All results before and after resection of the thyroid gland were documented. Results: A clear and reliable identification of the RLN and the EBSLN was possible in all cases. All NAR showed a constant physiological nerve signal before and after surgical resection of the thyroid gland. However, in one young patient the postoperative examination of the vocal cord revealed a partial paralysis on the left side after thyroidectomy, despite the constant intraoperative signal of the RLN. After a period of six months, normal functioning had resumed. Conclusion: The IONM of both RLN and EBSLN in adult surgery could be used successfully in paediatric surgery. in this study a clear and positive identification of both nerves was possible in all patients. Therefore the IONM of the RLN and EBSLN could develop into a successful and easy method for the prevention of intraoperative nerve damage during thyroid surgery in childhood and young adolescence. Assuming that a constant IONM signal represents a normal vocal cord, our evaluation showed that there is a small percentage of false negative and positive results.

Sixty-two cryptorchid boys aged two to six years were selected at random either for surgical or for hormonal LH-RH treatment. As all biopsies from boys operated upon showed typical histological and ultra-structural signs of cryptorchidism, it can be concluded that only true cryptorchid patients were included in our study. LH-RH treatment was successful in sixteen (55%) of thirty-one boys. Median plasma 30' response values to LH-RH of LH were initially normal in all boys. Those treated successfully, remained also normal after treatment, whereas unsuccessfully treated patients had significantly lower LH response values at the end of the 4 weeks LH-RH treatment. FSH response was not statistically different before and after treatment.

A 10-year old boy with mucopolysaccharidosis (Type III A of Sanfilipe) is reported. As a result of gastric dilatation associated with the basic illness an acute gastric outlet obstruction developed. A gastro-duodenostomy was performed. The histology of the liver in mucopolysaccharidosis III and the differential diagnosis of gastric obstruction is discussed in detail. Eck