Zappel, Hildegard Franziska

[["dc.bibliographiccitation.firstpage","883"],["dc.bibliographiccitation.issue","8"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics Part A"],["dc.bibliographiccitation.lastpage","886"],["dc.bibliographiccitation.volume","140A"],["dc.contributor.author","Boschan, C."],["dc.contributor.author","Witt, Olaf"],["dc.contributor.author","Lohse, P."],["dc.contributor.author","Foeldvari, Ivan"],["dc.contributor.author","Zappel, H."],["dc.contributor.author","Schweigerer, Lothar L."],["dc.date.accessioned","2018-11-07T09:58:31Z"],["dc.date.available","2018-11-07T09:58:31Z"],["dc.date.issued","2006"],["dc.description.abstract","Neonatal-onset multisystem inflammatory disease (NOMID) is due to mutations in the CIAS1 gene. We describe the case of a 5-year-old boy with neonatal onset of urticaria-like rash, chronic fever, laboratory findings of systemic inflammation, hepatosplenomegaly, and chronic CNS inflammation associated with sensorineural deafness. Sequence analysis of exon 3 of the CIAS1 gene revealed a novel C1754A/S33IR Mutation. Since experimental evidence Suggests that patients with cryopyrin-associated periodic syndromes (CAPS) could respond to inhibition of binding of interleukin IL-1 alpha and IL-1 beta to the IL-1 receptor type 1, we treated the child with the IL-1 receptor antagonist anakinra. A remarkable clinical and serological response to therapy was observed, suggesting that pharmacological inhibition of the IL-1 signaling pathway offers an important new treatment option for patients with NOMID. (c) 2006 Wiley-Liss, Inc."],["dc.identifier.doi","10.1002/ajmg.a.31148"],["dc.identifier.isi","000236571700012"],["dc.identifier.pmid","16532456"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/37380"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-liss"],["dc.relation.issn","1552-4825"],["dc.title","Neonatal-onset multisystem inflammatory disease (NOMID) due to a novel S331R mutation of the CIAS1 gene and response to interleukin-1 receptor antagonist treatment"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","343"],["dc.bibliographiccitation.issue","6"],["dc.bibliographiccitation.journal","Klinische Pädiatrie"],["dc.bibliographiccitation.lastpage","346"],["dc.bibliographiccitation.volume","214"],["dc.contributor.author","von Schnakenburg, C."],["dc.contributor.author","Breme, K."],["dc.contributor.author","Fink, Christine"],["dc.contributor.author","Meller, J."],["dc.contributor.author","Zappel, H. F."],["dc.contributor.author","Peuster, M."],["dc.date.accessioned","2018-11-07T09:53:34Z"],["dc.date.available","2018-11-07T09:53:34Z"],["dc.date.issued","2002"],["dc.description.abstract","Background: Neonatal arterial hypertension is rare with an incidence between 0.2 - 3 %. Clinical presentation varies widely and is in some cases dramatic. Patient: A 4-day old full-term neonate was admitted to the intensive care unit with severe congestive heart failure and metabolic acidosis. Mechanical ventilation was initiated and dobutamine administered because of poor systolic function. Continuous monitoring of blood pressure revealed severe arterial hypertension (30 to 40 mm Hg above the 95th percentile). Ultrasonography showed an echogenic left kidney with normal perfusion. Laboratory examinations revealed a raised peripheral renin activity, thrombocytopenia, slightly raised d-dimers, a microhematuria and mild proteinuria. After resolution of hypertension under therapy with an ACE-inhibitor, a MAG3 renal scan showed complete absence of renal function on the left side. Renal artery stenosis was excluded by venous transcardial angiography. Under therapy with Captopril, the patient was discharged and followed up for 8 months. He is developing normally with normal serum creatinine (0.4 mg/dl), but low renal function (17%) of the left side as assed by DMSA-scan and compensatory right kidney hypertrophy are observed. Discussion: Diagnosis and treatment of neonatal hypertension are discussed with respect to the proposed case. After exclusion of other causes we conclude that a perinatal microangiopathic event may have lead to the renal lesions with malignant renovascular hypertension."],["dc.identifier.doi","10.1055/s-2002-35370"],["dc.identifier.isi","000179546600004"],["dc.identifier.pmid","12424682"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/36355"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Georg Thieme Verlag Kg"],["dc.relation.issn","0300-8630"],["dc.title","Case report: Neonatal hypertension"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","945"],["dc.bibliographiccitation.journal","Journal of Pediatric Endocrinology and Metabolism"],["dc.bibliographiccitation.lastpage","948"],["dc.bibliographiccitation.volume","15"],["dc.contributor.author","Roth, C."],["dc.contributor.author","Freiberg, Clemens"],["dc.contributor.author","Zappel, H."],["dc.contributor.author","Albers, N."],["dc.date.accessioned","2018-11-07T10:22:35Z"],["dc.date.available","2018-11-07T10:22:35Z"],["dc.date.issued","2002"],["dc.description.abstract","Testolactone is used to treat conditions with excessive estrogen synthesis, e.g. gonadotropin-independent precocious puberty in McCune-Albright syndrome (MAS). Unfortunately, daily treatment with testolactone requires 3 to 4 doses (10-20 tablets) and even at these doses it is sometimes ineffective. We treated a patient with MAS (cafe-au-lait spots; thelarche at age 2-(6)/(12) yr; menarche at 5-(5)/(12) yr; accelerated bone age [BA 10 yr]) with the highly selective aromatase inhibitor anastrozolle (1 mg once per day). Tamoxifen 1 mg/kg per day was added for 1 year but was discontinued when an ovarian cyst developed with markedly elevated estradiol levels. Estradiol levels returned to normal after resuming anastrozole-only treatment and accelerated BA progressed only 6 months during 21/2 years of treatment. The potent estrogen suppressive action and simple dosage regimen of anastrozole suggest it may be advantageous compared to other aromatase inhibitors such as testolactone or anti-estrogens."],["dc.identifier.isi","000177550800012"],["dc.identifier.pmid","12199354"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/42304"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Freund Publishing House Ltd"],["dc.publisher.place","London"],["dc.relation.conference","Meeting on McCune-Albright Syndrome - New Insights"],["dc.relation.eventlocation","TURIN, ITALY"],["dc.relation.issn","0334-018X"],["dc.title","Effective aromatase inhibition by anastrozole in a patient with gonadotropin-independent precocious puberty in McCune-Albright syndrome"],["dc.type","conference_paper"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","678"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","Cell Cycle"],["dc.bibliographiccitation.lastpage","688"],["dc.bibliographiccitation.volume","15"],["dc.contributor.author","Guen, Vincent J."],["dc.contributor.author","Gamble, Carly"],["dc.contributor.author","Perez, Dahlia E."],["dc.contributor.author","Bourassa, Sylvie"],["dc.contributor.author","Zappel, Hildegard"],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Lees, Jacqueline A."],["dc.contributor.author","Colas, Pierre"],["dc.date.accessioned","2017-09-07T11:54:35Z"],["dc.date.available","2017-09-07T11:54:35Z"],["dc.date.issued","2016"],["dc.description.abstract","CDK10/CycM is a protein kinase deficient in STAR (toe Syndactyly, Telecanthus and Anogenital and Renal malformations) syndrome, which results from mutations in the X-linked FAM58A gene encoding Cyclin M. The biological functions of CDK10/CycM and etiology of STAR syndrome are poorly understood. Here, we report that deficiency of CDK10/Cyclin M promotes assembly and elongation of primary cilia. We establish that this reflects a key role for CDK10/Cyclin M in regulation of actin network organization, which is known to govern ciliogenesis. In an unbiased screen, we identified the RhoA-associated kinase PKN2 as a CDK10/CycM phosphorylation substrate. We establish that PKN2 is a bone fide regulator of ciliogenesis, acting in a similar manner to CDK10/CycM. We discovered that CDK10/Cyclin M binds and phosphorylates PKN2 on threonines 121 and 124, within PKN2 ' s core RhoA-binding domain. Furthermore, we demonstrate that deficiencies in CDK10/CycM or PKN2, or expression of a non-phosphorylatable version of PKN2, destabilize both the RhoA protein and the actin network architecture. Importantly, we established that ectopic expression of RhoA is sufficient to override the induction of ciliogenesis resulting from CDK10/CycM knockdown, indicating that RhoA regulation is critical for CDK10/CycM's negative effect on ciliogenesis. Finally, we show that kidney sections from a STAR patient display dilated renal tubules and abnormal, elongated cilia. Altogether, these results reveal CDK10/CycM as a key regulator of actin dynamics and a suppressor of ciliogenesis through phosphorylation of PKN2 and promotion of RhoA signaling. Moreover, they suggest that STAR syndrome is a ciliopathy."],["dc.identifier.doi","10.1080/15384101.2016.1147632"],["dc.identifier.gro","3141713"],["dc.identifier.isi","000373726800014"],["dc.identifier.pmid","27104747"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/247"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Taylor & Francis Inc"],["dc.relation.eissn","1551-4005"],["dc.relation.issn","1538-4101"],["dc.title","STAR syndrome-associated CDK10/Cyclin M regulates actin network architecture and ciliogenesis"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","15"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","Journal of Pediatric Surgery"],["dc.bibliographiccitation.lastpage","17"],["dc.bibliographiccitation.volume","37"],["dc.contributor.author","Heuser, M."],["dc.contributor.author","Zöller, G."],["dc.contributor.author","Seseke, F."],["dc.contributor.author","Zappel, H."],["dc.contributor.author","Ringert, R.H."],["dc.date.accessioned","2021-06-01T10:50:56Z"],["dc.date.available","2021-06-01T10:50:56Z"],["dc.date.issued","2002"],["dc.identifier.doi","10.1053/jpsu.2002.32302"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/86828"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-425"],["dc.relation.issn","0022-3468"],["dc.title","Bladder dysfunction in children with bilateral single ectopic ureters"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","275"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","Clinical Rheumatology"],["dc.bibliographiccitation.lastpage","283"],["dc.bibliographiccitation.volume","30"],["dc.contributor.author","Hedrich, Christian Michael"],["dc.contributor.author","Zappel, Hildegard"],["dc.contributor.author","Straub, Simon"],["dc.contributor.author","Laass, Martin W."],["dc.contributor.author","Wieczorek, Kathrin"],["dc.contributor.author","Hahn, Gabriele"],["dc.contributor.author","Heubner, Georg"],["dc.contributor.author","Gahr, Manfred"],["dc.date.accessioned","2018-11-07T08:59:35Z"],["dc.date.available","2018-11-07T08:59:35Z"],["dc.date.issued","2011"],["dc.description.abstract","Juvenile systemic lupus erythematosus is a rare multisystemic autoimmune disease with variable clinical manifestations, and disease onset before 16 years of age. Patients younger than 5 years are rarely affected and the age of onset may contribute to the course of disease in terms of clinical presentation, organ involvement, and serological findings. Here, we report two exemplary early-onset SLE patients, a 28-month-old patient with WHO class IIB kidney disease, arthritis, and a typical antibody constellation and an 11-month-old infant that presented with microcytic anemia, leukocytosis, arthritis, fasciitis, fatty liver disease, protein losing enteropathy, edema, and minimal change glomerulonephritis. Epidemiologic and clinical features of early-onset SLE compared to other forms of SLE are given and differential diagnoses and treatment options are discussed."],["dc.identifier.doi","10.1007/s10067-010-1576-2"],["dc.identifier.isi","000286663000019"],["dc.identifier.pmid","20886250"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/23938"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Springer"],["dc.publisher.place","London"],["dc.relation.issn","0770-3198"],["dc.rights","Goescholar"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.title","Early onset systemic lupus erythematosus: differential diagnoses, clinical presentation, and treatment options"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1065"],["dc.bibliographiccitation.issue","6"],["dc.bibliographiccitation.journal","Pediatric Nephrology"],["dc.bibliographiccitation.lastpage","1075"],["dc.bibliographiccitation.volume","34"],["dc.contributor.author","Okorn, Christine"],["dc.contributor.author","Goertz, Anne"],["dc.contributor.author","Vester, Udo"],["dc.contributor.author","Beck, Bodo B."],["dc.contributor.author","Bergmann, Carsten"],["dc.contributor.author","Habbig, Sandra"],["dc.contributor.author","König, Jens"],["dc.contributor.author","Konrad, Martin"],["dc.contributor.author","Müller, Dominik"],["dc.contributor.author","Oh, Jun"],["dc.contributor.author","Ortiz-Brüchle, Nadina"],["dc.contributor.author","Patzer, Ludwig"],["dc.contributor.author","Schild, Raphael"],["dc.contributor.author","Seeman, Tomas"],["dc.contributor.author","Staude, Hagen"],["dc.contributor.author","Thumfart, Julia"],["dc.contributor.author","Tönshoff, Burkhard"],["dc.contributor.author","Walden, Ulrike"],["dc.contributor.author","Weber, Lutz"],["dc.contributor.author","Zaniew, Marcin"],["dc.contributor.author","Zappel, Hildegard"],["dc.contributor.author","Hoyer, Peter F."],["dc.contributor.author","Weber, Stefanie"],["dc.date.accessioned","2020-12-10T14:10:40Z"],["dc.date.available","2020-12-10T14:10:40Z"],["dc.date.issued","2019"],["dc.identifier.doi","10.1007/s00467-018-4188-8"],["dc.identifier.eissn","1432-198X"],["dc.identifier.issn","0931-041X"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/70836"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.title","HNF1B nephropathy has a slow-progressive phenotype in childhood—with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","796"],["dc.bibliographiccitation.issue","8"],["dc.bibliographiccitation.journal","Monatsschrift Kinderheilkunde"],["dc.bibliographiccitation.lastpage","+"],["dc.bibliographiccitation.volume","149"],["dc.contributor.author","Zoller, G."],["dc.contributor.author","Zappel, H."],["dc.contributor.author","Seseke, Florian"],["dc.contributor.author","Ringert, Rolf-Hermann"],["dc.date.accessioned","2018-11-07T08:50:07Z"],["dc.date.available","2018-11-07T08:50:07Z"],["dc.date.issued","2001"],["dc.description.abstract","Purpose. Substances currently used for endoscopic correction of vesicoureteric reflux like Teflon, silicone or bovine collagen are critical with regard to biocompatibility. We investigated dextranomer microspheres (Deflux) in the endoscopic therapy of vesicoureteric reflux. Methods and Patients. Deflux was used in 29 children aged 20 months to 13,5 years (40 vesicoureteric units). Effectiveness of treatment was controlled by voiding cystourethrography 3 to 6 months afterwards. Results. Overall,the endoscopic treatment with Deflux was successful in 17 children and 23 vesicoureteric units. Infection associated reflux I degrees -III degrees was treated successfully in 17 of 19 children (=89,5%). In contrast, endoscopic therapy was not effective in children with reflux IV degrees and V degrees and in children with neurogenic bladder dysfunction. Conclusion. Deflux is an attractive alternative in the endoscopic treatment of vesicoureteric reflux in children. Especially, children with infection associated low-grad reflux may profit from this minimally invasive therapy."],["dc.identifier.doi","10.1007/s001120170105"],["dc.identifier.isi","000170816300008"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/21626"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Springer"],["dc.relation.issn","0026-9298"],["dc.title","Dextranomer microspheres (Deflux) in the endoscopic treatment of childhood vesicoureteric reflux"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","314"],["dc.bibliographiccitation.issue","6"],["dc.bibliographiccitation.journal","Klinische Pädiatrie"],["dc.bibliographiccitation.lastpage","316"],["dc.bibliographiccitation.volume","213"],["dc.contributor.author","Zoller, G."],["dc.contributor.author","Zappel, H."],["dc.contributor.author","Ringert, Rolf-Hermann"],["dc.date.accessioned","2018-11-07T08:29:28Z"],["dc.date.available","2018-11-07T08:29:28Z"],["dc.date.issued","2001"],["dc.description.abstract","Background: Ectopic ureter - especially in a duplicated collecting renal system - is a specific cause of incontinence in young girls. Although the symptom of continuous dribbling of urine is characteristic for this malformation, diagnosis is often delayed, as the possibility of ectopic ureters is not considered in treating girls with delayed toilet training. Case report: We present the case of a young girl with a variety of unnecessary invasive diagnostic and therapeutic procedures due to a misunderstood \"enuresis\", before incontinence was cured by upper pole heminephrectomy. Conclusions: Girls, who never have been dry and who loose urine all the time do have an ectopic ureter, unless evidence to the contrary has been put forward. Only considering the possibility of ectopic ureters will avoid unnecessary diagnostic and therapeutic procedures in these girls."],["dc.identifier.doi","10.1055/s-2001-18457"],["dc.identifier.isi","000172230500002"],["dc.identifier.pmid","11713707"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/16660"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Georg Thieme Verlag Kg"],["dc.relation.issn","0300-8630"],["dc.title","Ektopic ureter - a not considered cause of persisting enuresis in girls"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","321"],["dc.bibliographiccitation.issue","12"],["dc.bibliographiccitation.journal","DMW - Deutsche Medizinische Wochenschrift"],["dc.bibliographiccitation.lastpage","325"],["dc.bibliographiccitation.volume","126"],["dc.contributor.author","Roth, C."],["dc.contributor.author","Meller, J."],["dc.contributor.author","Bobrzik, S."],["dc.contributor.author","Thal, H."],["dc.contributor.author","Becker, W."],["dc.contributor.author","Kulenkampff, D."],["dc.contributor.author","Lakomek, Max"],["dc.contributor.author","Zappel, H."],["dc.date.accessioned","2018-11-07T09:16:06Z"],["dc.date.available","2018-11-07T09:16:06Z"],["dc.date.issued","2001"],["dc.description.abstract","Background: Since 1989 the use of iodized salt has been allowed in Germany, additional supplementation with iodide tablets has been recommended during pregnancy and lactation. This study was undertaken to clarify whether the iodine intake of neonates and young infants improved since then. Patients and methods: In the first part of the study the urinary iodine excretion of 52 newborns and their mothers in 1998 was compared to data of similar studies 1983 in the area of Gottingen and 1982 in the areas of Heidelberg and Rothenburg, Germany. All these are geographically low-iodine areas. In the second part the iodine supply of infants in 1998-1999 under feeding with mother's milk or formulas in 1998 and 1999 was obtained by measuring iodide concentrations in urine and milk using a high pressure liquid chromatography (HPLC) method. Results: 45% of pregnant women were without iodide supplementation in 1998. In 1998 the median urinary iodide concentration during the first week of life was 4,3 mug/dl, which was more than twice that found in 1983 (1,75 mug/dl). Infants feeded by mother's milk without maternal iodine supplentation or by semi-elementary diet had the lowest urinary iodine excretion, whereas significantly higher values were measured when feeding formulas for term or preterm infants. Conclusions: The iodine intake of newborns has markedly improved during 15 years. The WHO criterias for adequate iodine supply (TSH < 5 U/ml and urinary iodine >/ = 1 mug/dl) were only partly fulfilled in Gottingen indicating that a mild iodine deficiency still exists with the risk of iodine deficiency disorders."],["dc.identifier.doi","10.1055/s-2001-12099"],["dc.identifier.isi","000167664400001"],["dc.identifier.pmid","11305199"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/27861"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Georg Thieme Verlag Kg"],["dc.relation.issn","0012-0472"],["dc.title","Iodine supply in newborns and infants - a comparative study of iodine intake and iodine excretion of children and their mothers"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]