| 1. |
- Anderberg, Magnus, et al.
(författare)
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Paediatric computer-assisted retroperitoneoscopic nephrectomy compared with open surgery.
- 2011
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Ingår i: Pediatric Surgery International. - : Springer Science and Business Media LLC. - 1437-9813 .- 0179-0358. ; 27:7, s. 761-767
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: Computer-assisted laparoscopic surgery (CALS) in children is increasingly used and has proven to be feasible and safe. However, its full potential remains unclear and clinical comparative studies hardly exist. The aim of this study was to prospectively evaluate our experience with CALS for performing retroperitoneal nephrectomies in children when compared with controls undergoing open surgery in terms of safety, operative time, blood loss, opoid requirements, the duration of hospital stay and complications. CHILDREN AND METHODS: Computer-assisted retroperitoneoscopic nephrectomy was undertaken in ten consecutive children, mean age at the time of surgery 6.4 (SD ± 4.5) years, and compared with a retrospectively collected control group of all other children, mean age 3.9 (SD ± 4.6) years, who underwent the same procedure by conventional open surgery between the years 2005 and 2009. The endpoint of the study was 1 month postoperatively. RESULTS: Nephrectomies were performed in all the children and no child was excluded from the study. There was no per-operative complication in any of the groups. The median (range) operative time was 202 (128-325) and 72 (44-160) min for the CALS and open group, respectively. The blood loss was minimal (<20 ml) for all the patients. The postoperative opoid requirements did not differ. The median (range) postoperative hospital stay was 1 (1-4) and 2 (1-7) days for the CALS and the open group, respectively. One complication in the form of an urinoma appeared 5 days after surgery in the CALS group. CONCLUSION: Computer-assisted retroperitoneoscopic nephrectomy is a safe, feasible and effective procedure in children. Even though operative times are longer the patients benefit from the lower morbidity, improved cosmetics and shorter hospitalization associated with the minimally invasive approach.
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| 2. |
- Anderberg, Magnus, et al.
(författare)
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Robotics versus laparoscopy - an experimental study of the transfer effect in maiden users.
- 2010
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Ingår i: Annals of Surgical Innovation and Research. - : Springer Science and Business Media LLC. - 1750-1164. ; 4, s. 3-3
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Tidskriftsartikel (refereegranskat)abstract
- ABSTRACT: BACKGROUND: Robot-assisted laparoscopy (RL) is used in a wide range of operative interventions, but the advantage of this technique over conventional laparoscopy (CL) remains unclear. Studies comparing RL and CL are scarce. The present study was performed to test the hypothesis that maiden users master surgical tasks quicker with the robot-assisted laparoscopy technique than with the conventional laparoscopy technique. METHODS: 20 subjects, with no prior surgical experience, performed three different surgical tasks in a standardized experimental setting, repeated four times with each of the RL and CL techniques. Speed and accuracy were measured. A cross-over technique was used to eliminate gender bias and the experience gained by carrying out the first part of the study. RESULTS: The task "tie a knot" was performed faster with the RL technique than with CL. Furthermore, shorter operating times were observed when changing from CL to RL. There were no time differences for the tasks of grabbing the needle and continuous suturing between the two operating techniques. Gender did not influence the results. CONCLUSION: The more advanced task of tying a knot was performed faster using the RL technique than with CL. Simpler surgical interventions were performed equally fast with either technique. Technical skills acquired during the use of CL were transferred to the RL technique. The lack of tactile feedback in RL seemed to matter. There were no differences between males and females.
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| 3. |
- Draaken, Markus, et al.
(författare)
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Classic Bladder Exstrophy: Frequent 22q11.21 Duplications and Definition of a 414 kb Phenocritical Region
- 2014
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Ingår i: Birth Defects Research. Part A: Clinical and Molecular Teratology. - : Wiley. - 1542-0760 .- 1542-0752. ; 100:6, s. 512-517
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Tidskriftsartikel (refereegranskat)abstract
- Background: Classic bladder exstrophy (CBE) is the most common form of the bladder exstrophy and epispadias complex. Previously, we and others have identified four patients with a duplication of 22q11.21 among a total of 96 unrelated CBE patients. Methods: Here, we investigated whether this chromosomal aberration was commonly associated with CBE/bladder exstrophy and epispadias complex in an extended case-control sample. Multiplex ligation-dependent probe amplification and microarray-based analysis were used to identify 22q11.21 duplications in 244 unrelated bladder exstrophy and epispadias complex patients (including 217 CBE patients) and 665 healthy controls. Results: New duplications of variable size were identified in four CBE patients and one control. Pooling of our previous and present data (eight duplications in 313 CBE patients) yielded a combined odds ratio of 31.86 (95% confidence interval, 4.24-1407.97). Array-based sequence capture and high-throughput targeted re-sequencing established that all breakpoints resided within the low-copy repeats 22A to 22D. Comparison of the eight duplications revealed a 414 kb phenocritical region harboring 12 validated RefSeq genes. Characterization of these 12 candidate genes through whole-mount in situ hybridization of mouse embryos at embryonic day 9.5 suggested that CRKL, THAP7, and LZTR1 are CBE candidate genes. Conclusion: Our data suggest that duplication of 22q11.21 increases CBE risk and implicate a phenocritical region in disease formation. (C) 2014 Wiley Periodicals, Inc.
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| 4. |
- Lundin, Johanna, et al.
(författare)
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22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment
- 2010
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Ingår i: European Journal of Medical Genetics. - : Elsevier BV. - 1769-7212 .- 1878-0849. ; 53:2, s. 61-65
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Tidskriftsartikel (refereegranskat)abstract
- Bladder exstrophy is a congenital malformation of the bladder and urethra. The genetic basis of this malformation is unknown however it is well known that chromosomal aberrations can lead to defects in organ development. A few bladder exstrophy patients have been described to carry chromosomal aberrations. Chromosomal rearrangements of 22q11.2 are implicated in several genomic disorders i.e. DiGeorge/velocardiofacial- and cat-eye syndrome. Deletions within this chromosomal region are relatively common while duplications of 22q11.2 are much less frequently observed. An increasing number of reports of microduplications of this region describe a highly variable phenotype. We have performed array-CGH analysis of 36 Swedish bladder exstrophy patients. The analysis revealed a similar and approximately 3 Mb duplication, consistent with the recently described 22q11.2 microduplication syndrome, in two unrelated cases with bladder exstrophy and hearing impairment. This finding was confirmed by multiplex ligation-dependent probe amplification (MLPA) and FISH analysis. Subsequent MLPA analysis of this chromosomal region in 33 bladder exstrophy patients did not reveal any deletion/duplication within this region. MLPA analysis of 171 anonymous control individuals revealed one individual carrying this microduplication. This is the first report of 22q11.2 microduplication associated with bladder exstrophy and hearing impairment. Furthermore the finding of one carrier among a cohort of normal controls further highlights the variable phenotype linked to this microduplication syndrome.
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| 5. |
- Reutter, Heiko, et al.
(författare)
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Genome-wide association study and mouse expression data identify a highly conserved 32kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.
- 2014
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 23:20, s. 5536-5544
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Tidskriftsartikel (refereegranskat)abstract
- Bladder Exstrophy-Epispadias Complex (BEEC), the severe end of the uro-rectal malformation spectrum, has a profound impact on continence as well as sexual and renal functions. It is widely accepted that for the majority of cases the genetic basis appears to be multifactorial. Here, we report the first study which utilizes genome-wide association methods to analyze a cohort comprising patients presenting the most common BEEC form, classic bladder exstrophy (CBE), to identify common variation associated with risk for isolated CBE. We employed discovery and follow-up samples comprising 218/865 cases/controls and 78 trios in total, all of European descent. Our discovery sample identified a marker near SALL1, showing genome-wide significant association with CBE. However, analyses performed on follow-up samples did not add further support to these findings. We were also able to identify an association with CBE across our study samples (discovery: P=8.88 x 10(-5); follow-up: P=0.0025; combined: 1.09 x 10(-6)) in a highly conserved 32kb intergenic region containing regulatory elements between WNT3 and WNT9B. Subsequent analyses in mice revealed expression for both genes in the genital region during stages relevant to the development of CBE in humans. Unfortunately, we were not able to replicate the suggestive signal for WNT3 and WNT9B in a sample that was enriched for non-CBE BEEC cases (P=0.51). Our suggestive findings support the hypothesis that larger samples are warranted to identify association of common variation with CBE.
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| 6. |
- Soderhall, Cilla, et al.
(författare)
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A Case with Bladder Exstrophy and Unbalanced X Chromosome Rearrangement
- 2014
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Ingår i: European Journal of Pediatric Surgery. - : Georg Thieme Verlag KG. - 1439-359X .- 0939-7248. ; 24:4, s. 353-359
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Tidskriftsartikel (refereegranskat)abstract
- Introduction Bladder exstrophy is a rare congenital malformation of the bladder and is believed to be a complex disorder with genetic and environmental background. We describe a young adult female with an isolated bladder exstrophy and with an X chromosome aberration. Patients and Methods Karyotyping identified an X chromosome rearrangement that was further characterized with array comparative genomic hybridization (CGH) and confirmed by multiplex ligation-dependent probe amplification and fluorescence in situ hybridization (FISH) analysis. Results The identified X chromosome rearrangement in our index patient consists of a gain of chromosomal material in region Xq26.3-> qter and loss in region Xp22.12->pter. This aberration was also carried by her mother and sister, none with bladder exstrophy. All three have a disproportionate short stature, as expected due to the deletion of one of the copies of the SHOX gene on Xp22.3. X-inactivation studies revealed a complete skewed inactivation pattern in carriers. Crossover events in the maternal germline furthermore resulted in different genetic material on the rearranged X chromosome between the index patient and her sister. Conclusion Our findings suggest an X-linked genetic risk factor for bladder exstrophy.
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| 7. |
- Stenström, Pernilla, et al.
(författare)
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Adolescents with anorectal malfromation: physical outcome, sexual health and quality of life
- 2014
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Ingår i: International Journal of Adolescent Medicine and Health. - : Walter de Gruyter GmbH. - 0334-0139 .- 2191-0278. ; 26:1, s. 49-59
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Tidskriftsartikel (refereegranskat)abstract
- Background: The necessity of referral of adolescents with anorectal malformation (ARM) from pediatric units to adult care is unclear. The issue requires knowledge about the adolescents´ health. Objective: To examine the physical outcome, sexual health and quality of life (QoL) in adolescents with ARM. Material and method: At medical counseling twenty-four adolescents with ARM, 15-21 years of age, answered questionnaires about physical outcome according to the Krickenbeck and QoL according to SF 36 and gastrointestinal quality of life (Giqli). Matched control groups were used. Fifteen adolescents participated in deep interviews about sexual health and body imaging. Results: Fecal soiling, constipation and gas incontinence were much higher for ARM patients compared with the controls (p<0.05). QoL regarding large bowel function was lower for both genders compared with the controls (p<0.05). Females scored lower in physically related QoL (p<0.05). Social and sexual adaption was transparent in the deep interviews. Conclusion: Adolescents with ARM have considerable intestinal symptoms, influencing QoL and requiring adaption in intimate situations. A referral to adult care seems important and a continuous cooperation between the pediatric surgeon and adult care is suggested.
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| 8. |
- Stenström, Pernilla, et al.
(författare)
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Bowel symptoms in children with anorectal malformation : A follow-up with a gender and age perspective.
- 2014
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Ingår i: Journal of Pediatric Surgery. - : Elsevier BV. - 1531-5037 .- 0022-3468. ; 49:7, s. 1122-1130
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Tidskriftsartikel (refereegranskat)abstract
- Abstract Background Gender specific outcome for children with anorectal malformations (ARM) is rarely reported although it is important for medical care and in parent counseling. Purpose To assess bowel function according to the Krickenbeck system in relation to ARM-subtype, gender and age. Method All children born with ARM in 1998–2008 and referred to two centers in two different countries were followed up. The bowel function in 50 girls and 71 boys, median age 8years, was analyzed. Results Among those with a perineal fistula, incontinence occurred in 42% of the females and in 10% of the males (p=0.005) whereas constipation occurred in 62% of the females and 35% of the males (p<0.001). No bowel symptoms differed between the females with perineal and vestibular fistulas (p>0.3 for every symptom). Sacral malformations were associated with incontinence only in males with rectourethral fistulas. Constipation among the males differed between the age groups: 58% versus 26% (p=0.013). Bowel symptoms did not change with age among the females. Conclusion Gender differences in outcome for children with ARM must be considered. Males with perineal fistulas had less incontinence and constipation than the females with perineal fistulas. The females with perineal and vestibular fistulas had similar outcomes.
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| 9. |
- Stenström, Pernilla, et al.
(författare)
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Endoscopically placed rectourethral guidewire facilitates the reconstruction of anus in children with anorectal malformations : a case report
- 2013
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Ingår i: European journal of pediatric surgery reports. - : Georg Thieme Verlag KG. - 2194-7619 .- 2194-7627. ; 1:1, s. 7-46
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Tidskriftsartikel (refereegranskat)abstract
- The aim of this report is to present a technical detail of use in the management of an anorectal malformation (ARM). A boy with ARM and a fistula to the urethra was operated on with a posterior sagittal anorectoplasty (PSARP). Before the PSARP operation, a videoendoscopy was performed through the distal stoma down to the distal end of the rectum. The rectourethral fistula was identified and a guidewire was passed through the endoscope, through the fistula, and out through the urethra. The endoscopically placed rectourethral guidewire was used as a landmark and facilitated the PSARP operation.
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| 10. |
- Stenström, Pernilla, et al.
(författare)
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Rectal Atresia - Operative Management with Endoscopy and Transanal Approach : A case report
- 2011
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Ingår i: Minimally Invasive Surgery. - : Hindawi Limited. - 2090-1445 .- 2090-1453. ; 2011
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Tidskriftsartikel (refereegranskat)abstract
- The aim of this study is to present the technique and outcome of the management of a newborn child with rectal atresia. A girl born with rectal atresia was diagnosed during physical examination and confirmed with X-ray. The anatomic appearance of the external anus, and lower pelvis was normal. The rectal ending was located 2 cm cranial from the anus and the distance between the rectal endings was 2 cm. A colostomy was established. At the age of five months the child was operated on with a rectal anastomosis using the endoscopic and transanal approach. Closure of the colostomy was performed at the age of ten months. The rectal anastomosis was treated with rectal dilatation weekly in order to avoid stricture. The patient was faecally continent at followup one and three months postoperatively. In conclusion, the endoscopic and transanal approach is an alternative to other surgical techniques in the management of rectal atresia.
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