Publications by authors named "Karin Rothe"

23 Publications

  • Page 1 of 1

Multidisciplinary long-term care and modern surgical treatment of congenital melanocytic nevi - recommendations by the CMN surgery network.

J Dtsch Dermatol Ges 2019 10 27;17(10):1005-1016. Epub 2019 Sep 27.

Department of Dermatology, University Medical Center, Tübingen, Germany.

In recent years, our knowledge of congenital melanocytic nevi (CMN) has greatly expanded. This has led to a paradigm shift. The present article represents a commentary by an interdisciplinary group of physicians from German-speaking countries with extensive experience in long-term care and surgical treatment of children and adults with CMN (CMN surgery network, "Netzwerk Nävuschirurgie", NNC). The authors address aspects such as the indication for treatment as well as treatment planning and implementation under these new premises. Adequate counseling of parents on conservative and/or surgical management requires an interdisciplinary exchange among physicians and individualized planning of the intervention, which frequently involves a multi-stage procedure. Today, the long-term aesthetic outcome is at the center of any therapeutic endeavor, whereas melanoma prevention plays only a minor role. The premise of "removal at any cost" no longer holds. Potential treatment-related adverse effects (hospitalization, wound healing disorders, and others) must be carefully weighed against the prospects of a beneficial outcome. In this context, the use of dermabrasion in particular must be critically evaluated. At a meeting of the NNC in September 2018, its members agreed on a consensus-based position on dermabrasion, stating that the procedure frequently leads to impaired wound healing and cosmetically unfavorable or hypertrophic scarring. Moreover, dermabrasion is considered to be commonly associated with considerable repigmentation that usually occurs a number of years after the procedure. In addition, the NNC members saw no benefit in terms of melanoma prevention. In the future, physicians should therefore thoroughly caution about the potential risks and often limited cosmetic benefits of dermabrasion.
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http://dx.doi.org/10.1111/ddg.13951DOI Listing
October 2019

Sonographic differentiation of complicated from uncomplicated appendicitis.

Br J Radiol 2019 Jul 29;92(1099):20190102. Epub 2019 May 29.

1 Department of Pediatric Surgery, Charité - Universitätsmedizin Berlin, Augustenburger Platz , Berlin , Germany.

Objective: This study aims to differentiate acute uncomplicated and complicated appendicitis, by investigating the correlation between sonographic findings and histological results in different types of paediatric appendicitis.

Methods: This is a retrospective study of 1017 paediatric patients (age < 18 years) who underwent ultrasound by paediatric radiologists before appendicectomy at our institution between 2006 and 2016. Histologically, uncomplicated appendicitis was primarily associated with transmural infiltration of neutrophil granulocytes, while complicated appendicitis was characterised by transmural myonecrosis. Logistic regression analyses were used to investigate the association between sonographic and histological findings.

Results: Out of 566 (56%) male and 451 (44%) female patients with a mean age of 10.7 years, uncomplicated appendicitis was histologically diagnosed in 446 (44%) children and complicated appendicitis was diagnosed in 348 (34%) cases. The following ultrasound findings were significantly associated with complicated appendicitis in multivariate regression: an increased appendiceal diameter (OR = 1.3, < .001), periappendiceal fat inflammation (OR = 1.5, = 0.02), the presence of an appendicolith (OR = 1.7, = 0.01) and a suspected perforation (OR = 6.0, < .001) by the pediatric radiologist. For complicated appendicitis, an appendiceal diameter of more than 6 mm had the highest sensitivity (98%), while a sonographically suspected perforation showed the highest specificity (94%).

Conclusion: Abdominal sonography by paediatric radiologists can differentiate between uncomplicated and complicated appendicitis in paediatric patients by using an increased appendiceal diameter, periappendiceal fat inflammation, the presence of an appendicolith and a suspected perforation as discriminatory markers.

Advances In Knowledge: This paper demonstrates expanded information on ultrasound, which is not only an essential tool for diagnosing appendicitis, but also a key method for distinguishing between different forms of appendicitis when performed by paediatric radiologists. Compared with previous studies, the crucial distinction features in our analysis are 1) the definition of gangrene and not primarily perforation as an acute complicated appendicitis enabling early decision-making by sonography and 2) a large number of patients in a particularly affected age group.
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http://dx.doi.org/10.1259/bjr.20190102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6636276PMC
July 2019

Correction to: Phlegmonous appendicitis in children is characterized by eosinophilia in white blood cell counts.

World J Pediatr 2019 Dec;15(6):627-629

Department of Pediatric Surgery, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany.

The original article can be found online.
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http://dx.doi.org/10.1007/s12519-018-0185-zDOI Listing
December 2019

Phlegmonous appendicitis in children is characterized by eosinophilia in white blood cell counts.

World J Pediatr 2018 Oct 24;14(5):504-509. Epub 2018 Jul 24.

Department of Pediatric Surgery, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany.

Background: Phlegmonous and complicated appendicitis represent independent entities depending on hereditary immunological mechanisms. However, clinically there are no means to distinguish uncomplicated phlegmonous from complicated appendicitis. The ability to distinguish these two forms of appendicitis is relevant as current attempts are to treat both forms of the disease differently. The aim of the present study was to investigate differences in white blood cell counts (WBCs) in these conditions to identify areas of interest for future molecular studies.

Methods: White blood cell counts of patients aged between 7 and 14 years who underwent appendectomy from January 2008 to June 2016 were investigated with special reference to particular cellular subpopulations.

Results: A total of 647 children were included in the study. Within distinct inflammatory patterns, significant eosinophilia and basophilia were found in phlegmonous inflammation compared with complicated inflammation (0.11 ± 0.19 × 10/L vs. 0.046 ± 0.104 × 10/L, P < 0.0001, and 0.033 ± 0.031 × 10/L vs. 0.028 ± 0.024 × 10/L, P < 0.001).

Conclusions: Compared with complicated disease, phlegmonous appendicitis seems to depend primarily on eosinophil inflammation. This observation is stable over time and indicates a direction for investigation of underlying genetic prerequisites.
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http://dx.doi.org/10.1007/s12519-018-0173-3DOI Listing
October 2018

Obstruction of peritoneal dialysis catheter is associated with catheter type and independent of omentectomy: A comparative data analysis from a transplant surgical and a pediatric surgical department.

J Pediatr Surg 2018 Apr 4;53(4):640-643. Epub 2017 Jul 4.

Department of Hepatobiliary and Transplant Surgery, University Medical Center Hamburg-Eppendorf UKE, University Transplantation Center UTC, Hamburg, Germany.

Background: Peritoneal dialysis (PD) catheter occlusion is a common complication with up to 36% of catheter obstructions described in the literature. We present a comparison of complications and outcome after implantation of PD catheters in a transplant surgical and a pediatric surgical department.

Methods: We retrospectively analyzed 154 PD catheters, which were implanted during 2009-2015 by transplant surgeons (TS, University Medical Center Hamburg-Eppendorf, Germany, n=85 catheters) and pediatric surgeons (PS, Charité University Medicine Berlin, Germany, n=69 catheters) in 122 children (median (range) age 3.0 (0.01-17.1) years) for acute (n=65) or chronic (n=89) renal failure. All catheters were one-cuffed or double-cuffed curled catheters, except that straight catheters were implanted into smaller children (n=19) by TS in Hamburg.

Results: Patient characteristics and operation technique did not differ between the departments. Peritonitis was the most common complication (33 catheters, 21.4%). Leakage (n=18 catheters, 11.7%) occurred more often in children weighing <10kg (p<0.001). The incidence of obstruction and dysfunction was significantly higher in catheters used in PS than catheters used in TS (30.4% vs. 11.8%, p=0.004). Omentectomy did not reduce the incidence of catheter obstruction (p=1.0). Perforation at the catheter tips was larger and appeared to be rougher in catheters used in PS than the catheters in TS.

Conclusions: The type of catheter and presumably the type of perforation at the catheter tip may influence the incidence of peritoneal dialysis catheter obstruction.
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http://dx.doi.org/10.1016/j.jpedsurg.2017.06.028DOI Listing
April 2018

Pulmonary outcome of esophageal atresia patients and its potential causes in early childhood.

J Pediatr Surg 2017 Aug 3;52(8):1255-1259. Epub 2017 Jan 3.

Charité Universitaetsmedizin Berlin, Department of Pediatric Surgery, Augustenburger Platz 1, 13353 Berlin; Klinikum Ernst von Bergmann, Department of Pediatric Surgery, Charlottenstrasse 72, 14467 Potsdam.

Introduction: The aim of this study was to illustrate the pulmonary long term outcome of patients with repaired esophageal atresia and to further examine causes and correlations that might have led to this outcome.

Methods: Twenty-seven of 62 possible patients (43%) aged 5-20years, with repaired esophageal atresia were recruited. Body plethysmography and spirometry were performed to evaluate lung function, and the Bruce protocol treadmill exercise test to assess physical fitness. Results were correlated to conditions such as interpouch distance, gastroesophageal reflux or duration of post-operative mechanical ventilation.

Results: Seventeen participants (63%) showed abnormal lung function at rest or after exercise. Restrictive ventilatory defects (solely restrictive or combined) were found in 11 participants (41%), and obstructive ventilatory defects (solely obstructive or combined) in 13 subjects (48%). Twenty-two participants (81%) performed the Bruce protocol treadmill exercise test to standard. The treadmill exercise results were expressed in z-score and revealed to be significantly below the standard population mean (z-score=-1.40). Moreover, significant correlations between restrictive ventilatory defects and the interpouch distance; duration of post-operative ventilation; gastroesophageal reflux disease; plus recurrent aspiration pneumonia during infancy; were described.

Conclusion: It was shown that esophageal atresia and associated early complications have significant impact on pulmonary long term outcomes such as abnormal lung function and, in particular restrictive ventilatory defects. Long-running and regular follow-ups of patients with congenital esophageal atresia are necessary in order to detect and react to the development and progression of associated complications such as ventilation disorders or gastroesophageal reflux disease.

Level Of Evidence: Prognosis study, Level II.
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http://dx.doi.org/10.1016/j.jpedsurg.2016.12.025DOI Listing
August 2017

In Reply.

Authors:
Karin Rothe
February 2016

Voiding Cystourethrography in the Diagnosis of Anorectal Malformations.

Eur J Pediatr Surg 2016 Dec 11;26(6):494-499. Epub 2016 Jan 11.

Department of Pediatric Surgery, Charité University Hospital, Berlin, Germany.

 In a newborn with an anorectal malformation (ARM), it is vital to determine the anatomy of the underlying defect. After a colostomy has been created, distal colostography (DCG) is currently the chosen modality for the detection of fistulas. The role of voiding cystourethrography (VCU) is unexplored.  The aim of this study was to analyze the reproducibility of DCG and VCU in assessing the underlying malformation in ARM, and to evaluate any degree of concordance among them.  A retrospective evaluation was undertaken comparing DCG and VCU findings with definitive surgical findings in children who received both investigations for the initial management of ARM.  In this study, 26 boys were included. Malformations were classified according to Krickenbeck classification. Four boys with perineal fistula were excluded from the analysis, as none of them needed a colostomy; therefore, comparison between both methods was not possible. VCU identified a rectourethral fistula in 12 cases, a rectovesical fistula in 4 cases, and excluded a fistula in 6 cases. VCU was false negative for a rectovesical fistula in one case. VCU showed a vesicoureteral reflux in 16 patients. Results obtained by VCU were compared with DCG. DCG showed a rectourethral fistula in 11 cases, a rectovesical in 3 cases, and excluded a fistula in 6 cases correctly. DCG was false negative in two cases, a rectoprostatic and a rectovesical fistula. The diagnostic accuracy, measuring the sensitivity was 95% in VCU (range: 76.18-99.88%) and 90% (range: 68.30-98.77%) in colostogram.  VCU can be as accurate as distal colostogram in the evaluation of male patients with ARM. VCU uses a natural orifice, without the need of a colostomy. VCU can be performed as an initial modality to determine the type of malformation and to decide on the type of early surgical management.
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http://dx.doi.org/10.1055/s-0035-1570102DOI Listing
December 2016

Animal and Human Bite Wounds.

Dtsch Arztebl Int 2015 Jun;112(25):433-42; quiz 443

Department of Pediatric Surgery, Charité-Universitätsmedizin Berlin, Institute of Forensic Medicine, Charité-Universitätsmedizin Berlin, Medical laboratory, Dr Frank Berthold and colleagues, Frankfurt (Oder).

Background: 30,000 to 50,000 injuries are caused by bites in Germany every year. Dog and cat bites are common, human bites relatively rare. 25% of the victims are under age 6, and 34% are aged 6 to 17.

Methods: This review is based on pertinent literature retrieved by a selective search and on the authors' clinical and scientific experience.

Results: In small children, most bite wounds are on the head and neck; in older children and adolescents, most are on the limbs. Bite injuries range from trivial ones needing no medical intervention to major soft-tissue defects with the loss of functionally important structures. A bite can transmit unusual pathogens from the saliva into the wound. The risk of infection after a bite is 10-20%, and about 30-60% of the infections are of mixed aerobic-anaerobic origin. Prophylactic antibiotics are recommended only for wounds that are considered at high risk of infection in view of their type and location, the species of the biting animal, and the characteristics of the patient.

Conclusion: Structured surgical management of bite wounds is the most important factor in the prevention of infection. High-risk wounds must be differentiated from trivial ones. Interdisciplinary management is advisable for wounds on the hands and face.
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http://dx.doi.org/10.3238/arztebl.2015.0433DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4558873PMC
June 2015

Improvements in Incontinence with Self-Management in Patients with Anorectal Malformations.

Eur J Pediatr Surg 2016 Apr 5;26(2):186-91. Epub 2015 Feb 5.

Department of Pediatric Surgery, Charité University Hospital, Berlin, Germany.

Unlabelled: There are limited data available in children with anorectal malformation (ARM) regarding the use of transanal colonic irrigation delivered with the Peristeen system (Coloplast Denmark A/S, Humlebaek, Denmark). To our knowledge no study has combined the element of controlled evacuation with self-management strategies. Our center began offering this management regimen 5 years ago to patients suffering from fecal incontinence. The aim of this study was to appraise the results of this approach in children from 4 to 18 years with incontinence and fecal soiling secondary to ARM.

Material And Methods: Bowel management was initiated with the help of hydrosonography to evaluate bowel motility and the volume of the enema. The Peristeen irrigation system was used. Anorectal irrigation was repeated every 24, 48, or 72 hours. A personal schedule was developed based on every patient's individual preferences. Irrigations were self-administered by the patient while sitting on the toilet. Patients were controlled for soiling, time needed for irrigation, time interval between irrigations 6 and 12 months after start of therapy, with further yearly follow-ups.

Results: A total of 40 patients aged between 4 and 18 years were evaluated. After 12 months of therapy, 32 patients were free of symptoms of soiling. Six patients were soiling occasionally. Two patients did not follow the therapeutic regime. The average time needed for irrigation was 35 minutes, with the lower limit of 12 minutes and the upper limit of 60 minutes, irrigations where done every 24 hours in 12 patients. Overall 25 patients irrigated twice every 48 and 72 hours to achieve a constant 7-day rhythm. One patient irrigated every 5 days. At follow-up after 2, 3, and 4 years success rates were stable.

Conclusion: We suggest that colonic irrigation should be combined with self-management strategies in children with ARM. Adherence to therapy can be enhanced with the use of an individualized irrigation schedule. The amount of time required for the irrigation can be significantly reduced. Therefore, when establishing colonic irrigation in children and adolescents a focus should be placed on time-saving measures and self-regulation.
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http://dx.doi.org/10.1055/s-0034-1544050DOI Listing
April 2016

Occurrence of giant focal forms of congenital hyperinsulinism with incorrect visualization by (18) F DOPA-PET/CT scanning.

Clin Endocrinol (Oxf) 2014 Dec 19;81(6):847-54. Epub 2014 May 19.

Institut für experimentelle pädiatrische Endokrinologie, Charité Universitätsmedizin, Berlin, Germany.

Context: Congenital hyperinsulinism (CHI) is a rare disease characterized by severe hypoglycaemic episodes due to pathologically increased insulin secretion from the pancreatic beta cells. When untreated, CHI might result in irreversible brain damage and death. Currently, two major subtypes of CHI are known: a focal form, associated with local distribution of affected beta cells and a nonfocal form, affecting every single beta cell. The identification of focal forms is important, as the patients can be cured by limited surgery. (18) F DOPA-PET/CT is an established non-invasive approach to differentiate focal from nonfocal CHI.

Objective: The purpose of this study was to identify possible limitations of (18) F DOPA-PET/CT scan in patients with focal forms nonfocal CHI.

Design: A retrospective chart review of 32 patients (from 2008 through 2013) who underwent (18) F DOPA-PET/CT and partial pancreatectomy for focal CHI at the reference centres in Berlin, Germany and London, UK.

Results: In most cases (n = 29, 90·7%), (18) F DOPA-PET/CT was sufficient to localize the complete focal lesion. However, in some patients (n = 3, 9·3%), (18) F DOPA-PET/CT wrongly visualized only a small portion of the focal lesion. In this group of patients, a so-called 'giant focus' was detected in histopathological analysis during the surgery.

Conclusions: Our data show that in most patients with focal CHI (18) F DOPA-PET/CT correctly predicts the size and anatomical localisation of the lesion. However, in those patients with a 'giant focal' lesion (18) F DOPA-PET/CT is unreliable for correct identification of 'giant focus' cases.
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http://dx.doi.org/10.1111/cen.12473DOI Listing
December 2014

[Treatment for fecal incontinence in patients with anorectal malformations. Introduction of a therapeutic approach].

Pflege Z 2013 Oct;66(10):612-5

Klinik und Poliklinik für Kinderchirurgie, Charité Universitätsmedizin Berlin.

Unlabelled: Fecal incontinence is a serious problem that may lead to social segregation and psychological problems. Patients with anorectal malformations frequently suffer fecal incontinence even with an excellent anatomic repair. In these patients an effective management program with enemas can improve their quality of life. We want to present our experience with bowel management and anorectal irrigation as treatment for stool incontinence.

Material And Methods: Patients who presented with soiling regardless of the type of anomaly were included in the study. The diagnostic program comprised a careful clinical history, physical examination, exact classification of the malformation and stool protocol. All patients suffering from true fecal incontinence were included in a bowel management program. These patients received oral polyethylenglykol to evacuate stool impaction. Than anorectal irrigation was initiated and repeated every 24 or 48 hours. Patients were controlled for soiling, time needed for irrigation and time interval between irrigations 6 and 12 months after start oftherapy.

Results: 40 patients aged 4 to 54 with a mean age of 15,95 years were evaluated. 12 months after start of therapy 32 patients were free of symptoms of soiling. 6 patients were soiling occasionally once or twice per week. 2 patients did not follow the therapeutic regime and therefore did not show an improved condition concerning soiling in the long run. The average time needed for irrigation was 45 minutes, irrigations where done every 24 hours in 12 patients. 25 patients irrigated twice every 48 and 72 hours to achieve a constant seven day rhythm. One patient irrigated every five days.

Discussion: Patients born with anorectal malformation and suffering from stool incontinece can be kept clean of stool if they are subjected to an adequate treatment.
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October 2013

Prenatal diagnosis and management of a massive fetal ovarian hemorrhagic cyst torsion with secondary fetal anemia.

J Clin Ultrasound 2014 May 12;42(4):219-22. Epub 2013 Sep 12.

Feto-Maternal Medicine Unit, Department of Obstetrics, Charité University Hospital, Humboldt University, Berlin, Germany.

We report the case of one of the largest prenatally detected fetal hemorrhagic cyst with ovarian torsion and fetal anemia leading to subsequent cesarean section delivery and further unilateral oophorectomy of the neonate. Usually, fetal ovarian cysts tend to resolve spontaneously within the first months after birth. There is no need of surgical treatment for such simple cysts. Routine sonographic examinations are obligatory, because in some cases complications such as massive hemorrhage, cyst rupture, or ovarian torsion with following infarction can occur. With the occurrence of these complex cyst signs by sonographic investigation, subsequent intervention should be considered by an interdisciplinary team.
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http://dx.doi.org/10.1002/jcu.22082DOI Listing
May 2014

Regional deep hyperthermia for salvage treatment of children and adolescents with refractory or recurrent non-testicular malignant germ-cell tumours: an open-label, non-randomised, single-institution, phase 2 study.

Lancet Oncol 2013 Aug 1;14(9):843-52. Epub 2013 Jul 1.

Paediatric Oncology Clinic, Haematology and Immunology, Centre for Child and Adolescent Health, Medical Faculty, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.

Background: Although the survival of children and adolescents with malignant germ-cell tumours has improved greatly in recent years, the outcome remains poor for those with refractory or recurrent malignant germ-cell tumours. We aimed to determine whether objective tumour response could be achieved in patients with refractory or recurrent malignant germ-cell tumours with PEI-regional deep hyperthermia as salvage treatment.

Methods: Patients with refractory or recurrent non-testicular malignant germ-cell tumours after standard cisplatin-based chemotherapy were treated prospectively with PEI chemotherapy (cisplatin 40 mg/m(2), delivered intravenously on days 1 and 4; etoposide 100 mg/m(2), intravenously on days 1-4; and ifosfamide 1800 mg/m(2), intravenously on days 1-4) plus simultaneous 1-h regional deep hyperthermia (41-43°C) on days 1 and 4. Patients received three to four treatment courses at 21-day intervals until residual tumour resection was possible; they subsequently received one or two additional courses of PEI-regional deep hyperthermia. Local radiotherapy was given for incompletely resected tumours. Chemotherapy and hyperthermia toxic effects were assessed using WHO grading. The primary endpoint was the proportion of patients who had an objective response as assessed with Response Evaluation Criteria in Solid Tumors version 1.0 guidelines. Secondary endpoints were the event-free survival and overall survival after 5 years. This ongoing PEI-regional deep hyperthermia study (Hyper-PEI protocol) is registered at the German Cancer Society, number 50-2732.

Findings: 44 patients aged 7 months to 21 years (median 2 years 7 months) with refractory or recurrent malignant germ-cell tumours (nine patients with poor response, 23 patients with first relapse, 12 patients with multiple relapses) were included in this study. We identified 34 yolk sac tumours, eight embryonal carcinomas, one choriocarcinoma, and one dysgerminoma by histology analysis. Of the 35 patients who had sufficient clinical and radiographical data available for response assessment, 30 (86%) had an objective response to treatment (16 patients had complete remission and 14 had partial remission). 5-year event-free survival was 62% (95% CI 45-75), and 5-year overall survival was 72% (95% CI 55-83). The median follow-up of surviving patients was 82 months (range 9-195). WHO grade 3-4 neutropenia and thrombocytopenia occurred in all 181 chemotherapy cycles. Granulocytopenic fever, which required intercurrent hospital admission, was noted in 29 (66%) of 44 patients after 53 (29%) of 181 courses. Five patients experienced treatment-related grade-3 acute renal toxic effects.

Interpretation: A multimodal strategy integrating PEI-regional deep hyperthermia and tumour resection with or without radiation can successfully treat children and adolescents with refractory or recurrent malignant non-testicular germ-cell tumours. The long-term prognosis of patients with poor response or after first relapse was almost similar to those receiving first-line treatment. This strategy merits further investigation.

Funding: Deutsche Krebshilfe eV, Bonn, Elterninitiative Kinderkrebsklinik Düsseldorf eV, the Barbara and Hubertus-Trettnerstiftung, and the Marie Quendt Fund.
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http://dx.doi.org/10.1016/S1470-2045(13)70271-7DOI Listing
August 2013

Hirschsprung disease in the older child: diagnostic strategies.

Clin Pediatr (Phila) 2012 Nov 30;51(11):1087-90. Epub 2012 Aug 30.

Department of Paediatric Surgery, Charité University Hospital, Berlin, Germany.

Background: Hirschsprung disease is usually diagnosed in patients who are younger than 1 year; but in some individuals it is found later in childhood.

Objective: This retrospective study is focused on clinical signs and symptoms of Hirschsprung disease in older children.

Materials And Methods: Patients with Hirschsprung disease were included in the study if they were older than 14 months at the time of diagnosis.

Results: Ten patients older than 14 months were diagnosed with Hirschsprung disease; 7 were males and 3 females. In all, 60% had a positive history of recurrent gastrointestinal infection with vomiting and hospitalization. In 6 patients, the final diagnosis was delayed because of unspecific findings in contrast enema. Rectal biopsy confirmed the diagnosis in all patients.

Conclusion: Contrast enema is not a specific method for diagnosing Hirschsprung disease. Rectal biopsy alone confirms the diagnosis and provides a clear indication for surgery.
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http://dx.doi.org/10.1177/0009922812458354DOI Listing
November 2012

Miliary tuberculosis complicated by pulmonary cavitations and pneumothorax in a 14-month old boy.

Ann Thorac Cardiovasc Surg 2012 31;18(4):355-8. Epub 2012 Jan 31.

Department of Pediatric Surgery, Children's Hospital, Toulouse Cedex, France.

Surgical management of tuberculosis is uncommon in children. We report a case of a 14-month-old boy with miliary tuberculosis and recurrent pneumothorax due to cavities in the left lung. This boy had no previous medical history and was referred to our hospital for a severe pneumonia. Initial chest radiograph showed bilateral miliary pattern. Direct microscopy of gastric lavage showed the presence of tubercle bacilli, providing definitive diagnosis. In spite of effective medication, his status rapidly worsened. A cardiac resuscitation was followed by intubation, and he required high-pressure ventilation for four weeks. He developed left pneumothorax, for which several drainages were performed. Computed tomography revealed a huge cavern system involving the entire lingula and surrounded by the left pneumothorax. Eventually, a massive enlargement of the initial cavity necessitated a thoracotomy and wedge resection.
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http://dx.doi.org/10.5761/atcs.cr.11.01732DOI Listing
August 2013

Monocarboxylate transporter 8 deficiency: altered thyroid morphology and persistent high triiodothyronine/thyroxine ratio after thyroidectomy.

Eur J Endocrinol 2011 Oct 3;165(4):555-61. Epub 2011 Aug 3.

Institut für Experimentelle Endokrinologie, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.

Context: Thyroid hormone transport across the plasma membrane depends on transmembrane transport proteins, including monocarboxylate transporter 8 (MCT8). Mutations in MCT8 (or SLC16A2) lead to a severe form of X-linked psychomotor retardation, which is characterised by elevated plasma triiodothyronine (T(3)) and low/normal thyroxine (T(4)). MCT8 contributes to hormone release from the thyroid gland.

Objective: To characterise the potential impact of MCT8-deficiency on thyroid morphology in a patient and in Mct8-deficient mice.

Design: Thyroid morphology in a patient carrying the A224V mutation was followed by ultrasound imaging for over 10 years. After thyroidectomy, a histopathological analysis was carried out. The findings were compared with histological analyses of mouse thyroids from the Mct8(-/y) model.

Results: We show that an inactivating mutation in MCT8 leads to a unique, progressive thyroid follicular pathology in a patient. After thyroidectomy, histological analysis revealed gross morphological changes, including several hyperplastic nodules, microfollicular areas with stromal fibrosis and a small focus of microfollicular structures with nuclear features reminiscent of papillary thyroid carcinoma (PTC). These findings are supported by an Mct8-null mouse model in which we found massive papillary hyperplasia in 6- to 12-month-old mice and nuclear features consistent with PTC in almost 2-year-old animals. After complete thyroidectomy and substitution with levothyroxine (l-T(4)), the preoperative, inadequately low T(4) and free T(4) remained, while increasing the l-T(4) dosage led to T(3) serum concentrations above the normal range.

Conclusions: Our results implicate peripheral deiodination in the peculiar hormonal constellation of MCT8-deficient patients. Other MCT8-deficient patients should be closely monitored for potential thyroid abnormalities.
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http://dx.doi.org/10.1530/EJE-11-0369DOI Listing
October 2011

Activating TSH-receptor mutation (Met453Thr) as a cause of adenomatous non-autoimmune hyperthyroidism in a 3-year-old boy.

J Pediatr Endocrinol Metab 2009 Mar;22(3):269-74

Department of Paediatric Surgery, University Hospital of Leipzig, Leipzig, Germany.

Several mutations of the TSH-receptor gene have been described in a variety of thyroid diseases. Particularly in children and adolescents, somatic or germ cell mutations may lead to hyperthyroidism. In these cases, molecular analysis of the TSHR gene provides important information for further clinical management. We report a 3-year-old boy with a rare somatic TSHR mutation causing autonomous adenoma of the thyroid gland in order to illustrate how the genetic analysis of the lesion impacted on the surgical strategy. The patient presented with a left neck mass, negative thyroid autoantibodies, and unifocal autonomy on thyroid scan. He underwent local resection of the adenoma. Genetic workup demonstrated a somatic mutation of TSHR. Exons 9 and 10 of the TSHR gene (chromosome 14q3) from peripheral blood DNA and toxic thyroid adenoma tissue DNA were amplified by PCR and analyzed by denatured gradient gel electrophoresis (DGGE). DGGE from the EDTA blood sample showed no difference compared to the wild-type, whereas material extracted from the tissue sample showed a mutation in exon 10. Direct sequencing of the PCR product from the tissue demonstrated a heterozygous mutation in codon 453 (ATG-->ACG), leading to a substitution of methionine by threonine. The genetic appraisal of resected thyroid tissue in cases with nonautoimmune hyperthyroidism is important to formulate surgical and medical treatment plans. In cases with somatic mutations of the TSHR, simple resection of the adenoma is sufficient, whereas total thyroidectomy should be considered in patients with germ cell mutations.
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http://dx.doi.org/10.1515/jpem.2009.22.3.269DOI Listing
March 2009

All-trans retinoic acid arrests neuroblastoma cells in a dormant state. Subsequent nerve growth factor/brain-derived neurotrophic factor treatment adds modest benefit.

J Pediatr Surg 2008 Jul;43(7):1284-94

Department of Pediatric Surgery, Marienhospital II-Kinderchirurgische Klinik der Ruhr-Universität Bochum, Widumerstr 8, 44627 Herne, Germany.

Background: Therapies aiming at inducing differentiation or apoptosis of neuroblastoma (NB) are an important research topic. Although retinoic acid showed promising antitumoral results, its effects against refractory disease are limited. Putative candidates for combination therapies are nerve growth factor (NGF; Tebu-Bio/Peprotech, Offenbach, Germany) and brain-derived neurotrophic factor (BDNF; Tebu-Bio/Peprotech, Offenbach, Germany) because their receptors are of prognostic clinical value in clinical neuroblastoma. Another clinical prognostic factor is the number of Schwann cells. Substances secreted by Schwann cells proved antitumoral capacities in vitro. The aim of the study was to analyze whether retinoic acid may offer an additional line of attack acting independent from Schwann cells and whether additive treatment with the neurotrophin-receptor ligands NGF/BDNF confers additional benefit.

Methods: Human SHSY-5Y NB cells were cultured in vitro. After a 7-day all-trans retinoic acid (ATRA; Sigma-Aldrich Chemie, Taufkirchen, Germany) treatment (15 mumol/L of ATRA), NB proliferation was proportional to extinction in dimethyl-thiazol-diphenyltetrazoliumbromide (MTT) tests. Fluorescence-activated cell sorter (FACS) analysis for annexin and propidium iodide determined the degree of apoptosis and necrosis as well as the expression of the Schwann type cell marker S100. The S100 messenger RNA was assessed by reverse transcriptase polymerase chain reaction. In addition, the effect on NB proliferation was investigated when ATRA was combined with a 7-day treatment with NGF or BDNF (10, 50, 100 ng/mL) either before or after the 7-day ATRA treatment.

Results: All-trans retinoic acid reduced proliferation (0.116 +/- 0.006 SEM vs 0.359 +/- 0.010 SEM in the untreated control group; P < .001). After ATRA treatment, 95% +/- 1.82% SEM were still viable, with only 2.61% +/- 1.17% SEM apoptotic and 2.38% +/- 0.69% SEM necrotic cells. All-trans retinoic acid induced a remarkable decrease in S100 expression in FACS (16.91% +/- 1.72% SEM vs 32.33% +/- 2.54% SEM in controls; P = .009). The S100 messenger RNA levels were not increased by ATRA (DeltaDeltaT values: 1.73, 2.77, and 1.43; n = 3). Both NGF and BDNF had only a modest synergistic effect when given after ATRA treatment. No effect was seen when they were administered before ATRA treatment.

Conclusions: All-trans retinoic proved to be a vigorous inhibitor of NB proliferation in vitro. However, because most NB cells remained viable combination therapies are required. Treatment with NGF and BDNF showed only a modest benefit and did not reflect the strong prognostic impact of tyrosine kinase receptors in clinical NB. The ATRA-induced proliferation arrest is not related to Schwann type subdifferentiation. This suggests that substances secreted by Schwann cells could be possible independent combination partners. We suggest studies using combinations of ATRA and substances secreted by Schwann cells.
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http://dx.doi.org/10.1016/j.jpedsurg.2008.01.007DOI Listing
July 2008

TNP-470 fails to block the onset of angiogenesis and early tumor establishment in an intravital minimal disease model.

Int J Colorectal Dis 2006 Mar 4;21(2):143-54. Epub 2005 Jun 4.

Department of Pediatric Surgery, University of Leipzig, 04317, Leipzig, Germany.

Background And Aims: The angiogenesis inhibitor TNP-470 (AGM-1470) has shown encouraging results in animal models of established tumors. However, results of recent clinical trials using TNP-470 have been disappointing. Since little is known about the effects of TNP-470 at the minimal disease stage, we analyzed the effects of TNP-470 on the early stages of tumor establishment.

Methods: Twenty thousand green fluorescent protein (GFP)-transfected murine CT-26 (colonic carcinoma) or Panc-02-H0 (pancreatic adenocarcinoma) cells were inoculated in dorsal skin-fold chambers in BALB/c or C57BL6 mice. Tumor area and microvessel density (MVD) were quantified by intravital microscopy (IVM). Body weight was also monitored. Effects were compared with those in a conventional model involving subcutaneous (s.c.) inoculation of 10(6) tumor cells, followed by measurement of tumor volume, endogenous plasma VEGF/endostatin (ELISA) and proliferation/apoptosis/microvessel density (Ki-67/TUNEL/CD-34). TNP-470 was injected s.c. over the 10-day experimental period (30 mg/kg every 2 days [n=6] to 100 mg/kg/day [n=5 dorsal skin-fold chamber model, n=4 s.c. tumor model]).

Results: At 30 mg/kg/every second day neither CT-26 nor PANC-02-H0 tumors were inhibited in neither of the two models. TNP-470 dosage was escalated in CT-26-bearing animals until an antiangiogenic effect could be observed. In the IVM model, only TNP-470 100 mg/kg/day reduced MVD (P=0.006), but failed to block the onset of angiogenesis and tumor area increase. Body weight decreased by 25% (P<0.05). In the subcutaneous tumor model, tumor growth was reduced (P=0.045) but not blocked, while vascular endothelial growth factor (VEGF)/endostatin synthesis and Ki67/TUNEL/CD-34 were not significantly affected.

Conclusion: While capable of reducing tumor growth in a conventional model, treatment with TNP-470 does not block the onset of angiogenesis and tumor establishment in a model of minimal disease. When used as a single agent TNP-470 does not control minimal tumor disease in experimental colonic carcinoma.
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http://dx.doi.org/10.1007/s00384-005-0751-4DOI Listing
March 2006

Peritoneal taurolidine lavage in children with localised peritonitis due to appendicitis.

Pediatr Surg Int 2005 Jun 18;21(6):445-8. Epub 2005 May 18.

Department of Paediatric Surgery, University of Leipzig, Oststrasse 21-25, 04317 Leipzig, Germany.

Despite aggressive surgical treatment, rational antibiotic therapy, and modern intensive care, generalised peritonitis remains a major threat in the paediatric age group. Several adjuvant strategies such as peritoneal saline lavage and peritoneal drainage have been utilised. Taurolidine, derived from the amino acid taurine, has bactericidic, antiendotoxic, and antiinflammatory properties. It has been introduced previously for intraoperative peritoneal lavage in treating peritonitis in adults. The aim of our study was to evaluate the effect of peritoneal taurolidine lavage on the clinical course and serological inflammation markers in children with perforated appendicitis and localised peritonitis. A series of 27 children presenting with appendicitis between January 1999 and July 2001 were included in the study after parental informed consent. All patients underwent open appendectomy. Taurolidine peritoneal lavage was applied in 15 randomly selected children (eight girls and seven boys; mean age 10 years and 10 months). Twelve children received saline peritoneal lavage and served as the control group (six girls and six boys; mean age 9 years and 7 months). Blood was taken preoperatively and on postoperative days 1, 3, 7, and 14. Full blood cell count, C-reactive protein, endotoxin, interleukin-1, interleukin-6, soluble interleukin-2 receptor, tumour necrosis factor alpha, and procalcitonin were investigated to evaluate the serological course of inflammation. Both groups initially presented with severe inflammation as evidenced clinically and serologically. The clinical postoperative course was uneventful in 13/15 patients in the treatment group and 10/12 patients in the control group. The remaining patients presented complications: intraperitoneal abscess or early postoperative bowel obstruction. With regard to the serological inflammatory parameters, no significant differences were found between the two groups except for the soluble interleukin-2-receptor on the 7th postoperative day. In conclusion, the expected reduction of endotoxin levels and inflammatory activity in the treatment group was not evident. A significant advantage of adjuvant peritoneal taurolidine lavage in the surgical therapy of children with localised peritonitis due to appendicitis could not be shown in our study.
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http://dx.doi.org/10.1007/s00383-005-1428-3DOI Listing
June 2005

Proteus syndrome.

J Comput Assist Tomogr 2002 Mar-Apr;26(2):262-5

Department of Diagnostic Radiology, University Hospital of Leipzig, Leipzig, Germany.

Proteus syndrome is a rarely described dysplasia syndrome of the group of congenital hamartomas that arises from mosaic mutation. An extraordinary case history including imaging studies will be reported. This 17-year-old girl suffered from cachexia, lifelong chronic obstipation, different dysplasias, and lipomatous tumor-like lesions. The following findings were marked: macrodactyly, nevi, hemihypertrophy, aggressive lipomatosis, hemangiomas of the spleen, and skull and cerebral malformations. Additionally, an intestinal affection with fatty wall thickening was detected. In contrast to reports in the literature describing a reduced lifespan with a mean of few years, our patient is still alive. The treatment should take a palliative symptomatic approach considering the clinical situation.
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http://dx.doi.org/10.1097/00004728-200203000-00017DOI Listing
April 2002