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5. First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B

Author

Gehlen, J., Giel, A.S., Köllges, R., Haas, S.L., Zhang, R., Trcka, J., Sungur, A., Renziehausen, F., Bornholdt, D., Jung, D., Hoyer, P.D., Nordenskjöld, A., Tibboel, D., Vlot, J., Spaander, M.C., Smigiel, R., Patkowski, D., Roeleveld, N., Rooij, I.A.L.M. van, Blaauw, I. de, Hölscher, A., Pauly, M., Leutner, A., Fuchs, J., Niethammer, J., Melissari, M.T., Jenetzky, E., Zwink, N., Thiele, H., Hilger, A.C., Hess, T., Trautmann, J., Marks, M., Baumgarten, M., Bläss, G., Landén, M., Fundin, B., Bulik, C.M., Pennimpede, T., Ludwig, M., Ludwig, K.U., Mangold, E., Heilmann-Heimbach, S., Moebus, S., Herrmann, B.G., Alsabeah, K., Burgos, C.M., Lilja, H.E., Azodi, S., Stenström, P., Arnbjörnsson, E., Frybova, B., Lebensztejn, D.M., Debek, W., Kolodziejczyk, E., Kozera, K., Kierkus, J., Kaliciński, P., Stefanowicz, M., Socha-Banasiak, A., Kolejwa, M., Piaseczna-Piotrowska, A., Czkwianianc, E., Nöthen, M.M., Grote, P., Rygl, M., Reinshagen, K., Spychalski, N., Ludwikowski, B., Hubertus, J., Heydweiller, A., Ure, B., Muensterer, O.J., Aubert, O., Gosemann, J.H., Lacher, M., Degenhardt, P., Boemers, T.M., Mokrowiecka, A., Małecka-Panas, E., Wöhr, M., Knapp, M., Seitz, G., Klein, A., Oracz, G., Brosens, E., Reutter, H., Schumacher, J., Gehlen, J., Giel, A.S., Köllges, R., Haas, S.L., Zhang, R., Trcka, J., Sungur, A., Renziehausen, F., Bornholdt, D., Jung, D., Hoyer, P.D., Nordenskjöld, A., Tibboel, D., Vlot, J., Spaander, M.C., Smigiel, R., Patkowski, D., Roeleveld, N., Rooij, I.A.L.M. van, Blaauw, I. de, Hölscher, A., Pauly, M., Leutner, A., Fuchs, J., Niethammer, J., Melissari, M.T., Jenetzky, E., Zwink, N., Thiele, H., Hilger, A.C., Hess, T., Trautmann, J., Marks, M., Baumgarten, M., Bläss, G., Landén, M., Fundin, B., Bulik, C.M., Pennimpede, T., Ludwig, M., Ludwig, K.U., Mangold, E., Heilmann-Heimbach, S., Moebus, S., Herrmann, B.G., Alsabeah, K., Burgos, C.M., Lilja, H.E., Azodi, S., Stenström, P., Arnbjörnsson, E., Frybova, B., Lebensztejn, D.M., Debek, W., Kolodziejczyk, E., Kozera, K., Kierkus, J., Kaliciński, P., Stefanowicz, M., Socha-Banasiak, A., Kolejwa, M., Piaseczna-Piotrowska, A., Czkwianianc, E., Nöthen, M.M., Grote, P., Rygl, M., Reinshagen, K., Spychalski, N., Ludwikowski, B., Hubertus, J., Heydweiller, A., Ure, B., Muensterer, O.J., Aubert, O., Gosemann, J.H., Lacher, M., Degenhardt, P., Boemers, T.M., Mokrowiecka, A., Małecka-Panas, E., Wöhr, M., Knapp, M., Seitz, G., Klein, A., Oracz, G., Brosens, E., Reutter, H., and Schumacher, J.

Abstract

Item does not contain fulltext, Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is the most common congenital malformation of the upper digestive tract. This study represents the first genome-wide association study (GWAS) to identify risk loci for EA/TEF. We used a European case-control sample comprising 764 EA/TEF patients and 5,778 controls and observed genome-wide significant associations at three loci. On chromosome 10q21 within the gene CTNNA3 (p = 2.11 × 10(-8); odds ratio [OR] = 3.94; 95% confidence interval [CI], 3.10-5.00), on chromosome 16q24 next to the FOX gene cluster (p = 2.25 × 10(-10); OR = 1.47; 95% CI, 1.38-1.55) and on chromosome 17q12 next to the gene HNF1B (p = 3.35 × 10(-16); OR = 1.75; 95% CI, 1.64-1.87). We next carried out an esophageal/tracheal transcriptome profiling in rat embryos at four selected embryonic time points. Based on these data and on already published data, the implicated genes at all three GWAS loci are promising candidates for EA/TEF development. We also analyzed the genetic EA/TEF architecture beyond the single marker level, which revealed an estimated single-nucleotide polymorphism (SNP)-based heritability of around 37% ± 14% standard deviation. In addition, we examined the polygenicity of EA/TEF and found that EA/TEF is less polygenic than other complex genetic diseases. In conclusion, the results of our study contribute to a better understanding on the underlying genetic architecture of ET/TEF with the identification of three risk loci and candidate genes.

Published
2022

17. Léčba apendicitidy u dětských pacientů - Status quo 2017.

Author

Dotlačil, V., Frýbová, B., Petrů, O., Hradský, O., Plánka, L., Harvánek, K., Hanák, R., Štichhauer, R., Příplatová, T., Janeček, L., Havránek, P., Kocmanová, K., Malý, T., Slívová, I., Horák, Z., Bierhanzlová, J., Polák, P., and Rygl, M.

Subjects
CHILD patients, APPENDICITIS, PEDIATRIC surgery, ANTIBIOTICS, OPERATIVE surgery
Abstract

Copyright of Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2019

18. Sakrokokcygeální teratom.

Author

Mlčochová, G., Kučerová, L., Rousková, B., Rygl, M., Prosová, B., Matěcha, J., Černý, M., Hercíková, L., Sochůrek, J., and Fait, T.

Published
2019

19. Fokální nodulární hyperplazie u dětí - diagnostika a léčba.

Author

Jaroščiaková, S., Frýbová, B., Kynčl, M., Grega, M., Šnajdauf, J., and Rygl, M.

Subjects
HYPERPLASIA, LIVER diseases, TISSUE wounds, CARCINOGENESIS, CANCER
Abstract

Copyright of Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2018

24. Infantilní hemangiomy. Současné léčebné postupy.

Author

Mališ, J., Stará, V., Bláhová, K., Bučková, H., Faberová, R., Štěrba, J., Klovrzová, S., Kynčl, M., Černý, M., Hrdlička, R., Mojžíšová, M., Vaculík, M., Kozák, J., Katra, R., Michalusová, I., Sukop, A., Rygl, M., Hercogová, J., Arenberger, P., and Šmucler, R.

Abstract

Copyright of Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2017

25. [Are there any new procedures for treating necrotising enterocolitis in neonates with very low birth weight?]

Author

Cunát V, Stranák Z, Rygl M, Melichar J, Jan Miletin, and Pýcha K

Subjects
Enterocolitis, Necrotizing, Infant, Newborn, Humans, Infant, Very Low Birth Weight, Infant, Premature, Diseases
Abstract

To evaluate some perinatal and neonatal risk factors of occurrence of necrotising enterocolitis (NEC) and the current possibilities of treatment.A retrospective data analysis.Mother and Child Care Institute, Prague.The clinical course in 28 neonates treated for NEC on the worksite of the authors in the period 1999-2003. Only neonates with NEC in the second and third Bell's stages were included in the group.From a group of 14,275 neonates born during the reference period, NEC was diagnosed in 28 neonates. In all cases, they were neonates with very low birth weight (VLBW). The average gestation age was 26.6 weeks (the range was 23-35; the median was 25.5); the average birth weight was 822 grams (the range was 340-1,490g; the median was 735). Incidence was between 1.08 and 2.37/1,000 live births (the average was 1.94). On the average, NEC occurred on the 17th day after birth (the range was 5-59; the median was 14). 14 neonates (50%) in the acute stage of NEC were operated on; 9 children (32%) were only treated conservatively. In eight children at the acute stage, who were operated on, divided ileostomy was created; in four children, a T-drain was used for removal of the intestinal content and an abdominal drain was used for this purpose in one child. Repeated surgery was necessary in five children. Of the conservatively treated ones, five children recovered as a result of conservative treatment and four children died as a result of fast progression of NEC without surgical treatment. All the children treated for patent ductus arteriosus (PDA) with Indometacin died. The overall mortality in the group was 39.3% (11 children died).Prematurity seems to be the common denominator of the occurrence of NEC. Treatment of NEC in highly immature neonates with birth weight below 1,500g requires comprehensive cooperation of a neonatologist and a children's surgeon. Resection of a necrotic intestine with creation of a stomy remains a standard procedure, which is followed in unstable neonates with a localised form of the illness. Prevention of premature birth, antenatal steroids, frequent feeding (trophic feeding) and the corresponding correction of water management seem to be a reasonable strategy to reduce the incidence of NEC. The resulting incidence, mortality, the time of the occurrence of NEC and the therapeutic procedures are within the limits stated in the international literature.

Published
2005

26. [Reconstruction of the diaphragm with a polytetrafluoroethylene patch in neonates with congenital diaphragmatic hernia]

Author

Rygl M, Pýcha K, Snajdauf J, Skába R, Melichar J, Jan Janota, and Stranák Z

Subjects
Hernia, Diaphragmatic, Postoperative Complications, Diaphragm, Preoperative Care, Infant, Newborn, Humans, Surgical Mesh, Hernias, Diaphragmatic, Congenital, Polytetrafluoroethylene
Abstract

The authors present their experience with the reconstruction of the diaphragm with a synthetic polytetrafluoroethylene patch in a group of 66 neonates with a congenital diaphragmatic hernia. After preoperative stabilization 53 neonates (80%) were operated, simple reconstruction of the diaphragm was made in 39 neonates (74%), reconstruction of the diaphragm with a polytetrafluoroethylene patch was indicated in 14 patients (26%). Nine patients recovered after reconstruction of the diaphragm by a synthetic patch without complications. The only relapse of diaphragmatic hernia when using a patch was recorded in a neonate with a bilateral diaphragmatic hernia, sternal cleft and omphalocele. After simple reconstruction of the diaphragm there was no relapse of hernia. The total mortality in the group was 27% (18 neonates). After surgery five neonates died. Two of them died of serious haemorrhagic complications during extracorporeal membrane oxygenation and three died after operations performed at borderline oxygenation and ventilation values and subsequent deterioration of the general condition. In four of them a polytetrafluoroethylene patch (GORE-TEX) was used. Reconstruction of the diaphragm by a polytetrafluoroethylene patch is a suitable surgical method in the treatment of neonates with a congenital diaphragmatic hernia. Indication for the use of a patch is agenesis of the diaphragm and major diaphragmatic defects with hypoplastic borders. The use of a non-absorbable synthetic patch is from the aspect of the long-term effect on growth and the development of skeletal deformities equivocal and will call for further detailed studies.

Published
2002

27. Duodenum-sparing technique of head resection in solid pseudopapillary tumor of the pancreas in children.

Author

Snajdauf J, Rygl M, Petru O, Kalousova J, Kuklova P, Mixa V, Keil R, Hribal Z, Snajdauf, J, Rygl, M, Petru, O, Kalousova, J, Kuklova, P, Mixa, V, Keil, R, and Hribal, Z

Abstract

Aim Of Study: Aim of the study was to assess the complications and long-term results in children operated on for solid pseudopapillary tumor of the pancreas (SPTP) between 1993-2008 at the authors' institution with a focus on a novel duodenum-sparing technique to treat tumors of the head of the pancreas.Methods: Retrospective analysis was performed of patient data including demographics, diagnostic measures, the operative technique focusing on tumor of the head of the pancreas, complications and long-term results.Results: There were 13 patients (12 girls and one boy) with an average age of 14 years (9-17.5 years) at operation. In 7 patients the tumor was localized in the head of the pancreas, in 4 patients in the tail, and in 2 patients both the body and tail were involved. Patients with body and tail involvement underwent distal pancreatic resection. In 6 patients with head involvement a duodenum-sparing resection of the head and end-to-end anastomosis of the excluded jejunal loop either to the corpus or tail of the pancreas were performed. One girl underwent a modified Whipple operation. She developed a biliary fistula which closed after three weeks with endoscopic stenting. One patient with head resection developed a biliary fistula which closed after two weeks of stenting. One patient who underwent resection of the pancreatic head complained of recurrent abdominal pain one year postoperatively. All patients are alive without tumor recurrence at 6 months to 16 years after operation.Conclusion: SPTP is a rare pancreatic tumor with a low degree of malignancy. No perioperative chemotherapy is necessary. Therefore duodenal resection in cases of SPTP in the head of the gland seems too invasive and mutilating. The authors consider the duodenum-sparing technique to be more appropriate for the developing organism of a child. Favorable short and long-term results support this opinion. [ABSTRACT FROM AUTHOR]

Published
2009
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28. European biliary atresia registries: summary of a symposium

Author

Petersen, C., Harder, D., Abola, Z., Alberti, D., Becker, T., Chardot, C., Davenport, M., Deutschmann, A., Khelif, K., Kobayashi, H., Leonhardt, J., Melter, M., Pakarinen, M., Pawlowska, J., Petersons, A., Pfister, E.D., Rygl, M., Schreiber, R., Sokol, R., Ure, B., Veiga, C., Verkade, H., Wildhaber, B., Yerushalmi, B., Kelly, D., Kvist, Nina Eva, Petersen, C., Harder, D., Abola, Z., Alberti, D., Becker, T., Chardot, C., Davenport, M., Deutschmann, A., Khelif, K., Kobayashi, H., Leonhardt, J., Melter, M., Pakarinen, M., Pawlowska, J., Petersons, A., Pfister, E.D., Rygl, M., Schreiber, R., Sokol, R., Ure, B., Veiga, C., Verkade, H., Wildhaber, B., Yerushalmi, B., Kelly, D., and Kvist, Nina Eva

Abstract

Biliary atresia (BA) is a rare but potentially devastating disease. The European Biliary Atresia Registry (EBAR) was set up to improve data collection and to develop a pan-national and interdisciplinary strategy to improve clinical outcomes. From 2001 to 2005, 100 centers from 22 countries registered with EBAR via its website (www.biliary-atresia.com). In June 2006, the first meeting was held to evaluate results and launch further initiatives. During a 5-year period, 60 centers from 19 European countries and Israel sent completed registration forms for a total of 514 BA patients. Assuming the estimated incidence of BA in Europe is 1:18,000 live births, 35% of the expected 1488 patients from all EBAR participating countries were captured, suggesting that reporting arrangements need improvement. At the meeting, the cumulative evaluation of 928 BA patients including patients from other registries with variable follow-up revealed an overall survival of 78% (range from 41% to 92%), of whom 342 patients (37%) have had liver transplants. Survival with native liver ranged from 14% to 75%. There was a marked variance in reported management and outcome by country (e.g., referral patterns, timing of surgery, centralization of surgery). In conclusion, EBAR represents the first attempt at an overall evaluation of the outcome of BA from a pan-European perspective. The natural history and outcome of biliary atresia is of considerable relevance to a European population. It is essential that there is further support for a pan-European registry with coordination of clinical standards, further participation of parent support groups, and implementation of online data entry and multidisciplinary clinical and basic research projects Udgivelsesdato: 2008/4

Published
2008

35. European Biliary Atresia Registries: Summary of a Symposium

Author

Petersen, C., primary, Harder, D., additional, Abola, Z., additional, Alberti, D., additional, Becker, T., additional, Chardot, C., additional, Davenport, M., additional, Deutschmann, A., additional, Khelif, K., additional, Kobayashi, H., additional, Kvist, N., additional, Leonhardt, J., additional, Melter, M., additional, Pakarinen, M., additional, Pawlowska, J., additional, Petersons, A., additional, Pfister, E.-D., additional, Rygl, M., additional, Schreiber, R., additional, Sokol, R., additional, Ure, B., additional, Veiga, C., additional, Verkade, H., additional, Wildhaber, B., additional, Yerushalmi, B., additional, and Kelly, D., additional

Published
2008
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45. Minimálně invazivní operace vpáčeného hrudníku.

Author

Rygl, M., Vyhnánek, M., Kučera, A., Mixa, V., Věžníková, V., and Šnajdauf, J.

Subjects
*PECTUS excavatum, *OPERATIVE surgery, *THORACIC surgery, *PNEUMOTHORAX, *ATELECTASIS
Abstract

Aim: Minimally invasive repair of pectus excavatum (MIRPE) has become novel standard procedure for correction of pectus excavatum (PE). This report presents the surgical technique MIRPE and evaluates the results in children and adolescents. Methods: Method MIRPE is based on gradual remodeling effect of retrosternal steel bar on chest wall deformity. A convex bar is inserted through small bilateral thoracic incisions under thoracoscopic vision. After 3 years, when permanent remodeling of deformed cartilages has occurred, the bar is removed. The retrospective study of medical reports, imaging and clinical examinations analyzed safety and efficacy of MIRPE in 204 adolescent with PE. Results: During the period 2005-2012 the MIRPE was performed on 31 girls and 173 boys, the mean age at the time of surgery was 16.6 y (range 13-28 y). The mean Haller index was 4.7 (range 2.7-20.5). The most common complication was pneumothorax (3.4%), less common problems included atelectasis (1.4%), fluidothorax (0.5%), and lung injury (0.5%). The wound complications were abscess (2.5%), dehiscence (1%), and seroma (0.5%). The incidence of bar displacement was 2%. The most serious complication was cardiac perforation when inserting Lorenz introducer. This occurred in a 16-year-old girl, and she required urgent sternotomy with right atrial repair, she recovered well. Conclusions: Pectus excavatum deformity may significantly affect physical and mental quality of life in adolescents and in some cases can be treated surgically. Minimally invasive repair of pectus excavatum (MIRPE) is a safe method with low risk of complications, which reduces the operational stress and has better cosmetic results. [ABSTRACT FROM AUTHOR]

Published
2013

47. Kvalita života a nemocnost dětí po operaci vrozené brániční kýly.

Author

Rounová, P., Zemková, D., Šulc, J., Pýcha, K., Straňák, Z., Svobodová, T., Kynčl, M., Šnajdauf, J., and Rygl, M.

Subjects
CHILDREN'S health, PEDIATRIC surgery, QUALITY of life, DIAPHRAGMATIC hernia, CONGENITAL disorders, SYMPTOMS, SURGERY
Abstract

Copyright of Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2012

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