11q13 is a susceptibility locus for hormone receptor positive breast cancer

Lambrechts, Diether,Truong, Therese,Justenhoven, Christina,Humphreys, Manjeet K.,Wang, Jean,Hopper, John L.,Dite, Gillian S.,Apicella, Carmel,Southey, Melissa C.,Schmidt, Marjanka K.,Broeks, Annegien Wiley (John WileySons) 2012 Human mutation Vol.33 No.7

Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk.

Lin, Wei-Yu,Camp, Nicola J,Ghoussaini, Maya,Beesley, Jonathan,Michailidou, Kyriaki,Hopper, John L,Apicella, Carmel,Southey, Melissa C,Stone, Jennifer,Schmidt, Marjanka K,Broeks, Annegien,Van't Veer, L IRL Press 2015 Human molecular genetics Vol.24 No.1

<P>Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility, we carried out dense genotyping of this region in the Breast Cancer Association Consortium (BCAC). Single-nucleotide polymorphisms (SNPs) spanning a 1 Mb region around CASP8 were genotyped in 46 450 breast cancer cases and 42 600 controls of European origin from 41 studies participating in the BCAC as part of a custom genotyping array experiment (iCOGS). Missing genotypes and SNPs were imputed and, after quality exclusions, 501 typed and 1232 imputed SNPs were included in logistic regression models adjusting for study and ancestry principal components. The SNPs retained in the final model were investigated further in data from nine genome-wide association studies (GWAS) comprising in total 10 052 case and 12 575 control subjects. The most significant association signal observed in European subjects was for the imputed intronic SNP rs1830298 in ALS2CR12 (telomeric to CASP8), with per allele odds ratio and 95% confidence interval [OR (95% confidence interval, CI)] for the minor allele of 1.05 (1.03-1.07), P = 1 ?? 10(-5). Three additional independent signals from intronic SNPs were identified, in CASP8 (rs36043647), ALS2CR11 (rs59278883) and CFLAR (rs7558475). The association with rs1830298 was replicated in the imputed results from the combined GWAS (P = 3 ?? 10(-6)), yielding a combined OR (95% CI) of 1.06 (1.04-1.08), P = 1 ?? 10(-9). Analyses of gene expression associations in peripheral blood and normal breast tissue indicate that CASP8 might be the target gene, suggesting a mechanism involving apoptosis.</P>

Effectiveness of mini-open carpal tunnel release: An outcome study

van den Broeke, Lieselotte R.,Theuvenet, Willem.J.,van Wingerden, Jan.J. Korean Society of Plastic and Reconstructive Surge 2019 Archives of Plastic Surgery Vol.46 No.4

Background Carpal tunnel syndrome (CTS) is the most common peripheral entrapment neuropathy with a high morbidity and healthcare-related costs. Currently there is no consensus about the best treatment option. The purpose of this prospective cohort study conducted at a single institution was to evaluate the clinical outcomes and patient satisfaction following a mini-open carpal tunnel release for idiopathic CTS. Methods A total of 72 patients (53 female and 19 male patients; mean age, $57.8{\pm}15.3$ years; range, 24-94 years) had a mini-open carpal tunnel release performed by a single senior surgeon between June 2015 and June 2016. The patients were evaluated preoperatively, and at 3 and 12 months post-intervention. At every follow-up, the Boston Carpal Tunnel Syndrome Questionnaire (BCTSQ) and visual analogue scale (VAS) scores for pain and satisfaction were completed. Digital sensibility (using Semmes-Weinstein monofilaments) was assessed and pinch and grip strengths were measured. Results Statistically significant and clinically relevant improvement was found in terms of digital sensibility, grip and pinch strength (except for 2-point pinch), BCTSQ scores and pain scores. The complication rate was minimal, and no major complications occurred. Two patients experienced recurrence. The availability of follow-up records (including patient-reported outcomes, BCTSQ and VAS scores, and the complication rate) at 1-year post-intervention varied between 69% and 74% (50-53 patients) depending on which parameter was assessed. Patient satisfaction was high (mean, $80.9{\pm}26.0$; range, 0-100). Conclusions This study demonstrates that mini-incision carpal tunnel release is clinically effective in the short and long term.

Parental Experiences with Chemotherapy-Induced Alopecia among Childhood Cancer Patients in Indonesia

Gunawan, Stefanus,Broeke, Chloe ten,Ven, Peter van de,Arnoldussen, Marijn,Kaspers, Gertjan,Mostert, Saskia Asian Pacific Journal of Cancer Prevention 2016 Asian Pacific journal of cancer prevention Vol.17 No.4

Background: This study assessed parental experiences with chemotherapy-induced alopecia among children with cancer treated at an Indonesian academic hospital. Materials and Methods: Fifty parents of childhood cancer patients were interviewed using semi-structured questionnaires. Results: The moment that hair fell out was the moment that parents (84%) had to admit their child had cancer. Alopecia was a traumatizing painful experience (46%). Active strategies to hide alopecia, mainly hats, were used by 66% of children, while 34% never covered their bald head. If money had not been an issue, 40% would use another strategy. Alopecia made children limit outdoor daily activities (78%) and engagement with others (60%). Significantly more children from high-educated (95%) than low-educated (60%) parents received sympathy from other people (P=0.012). Significantly more Christian (29%) than Muslim (0%) families confirmed that alopecia lowered the quality of life (P=0.046). Most parents (82%) had no prior plans about alopecia management, yet for significantly more girls (26%) than boys (0%) such plans existed (P=0.044). Parents received most information about alopecia from other parents (66%). Parents (92%) needed more alopecia education from doctors. Of all school-attending children, 53% were bullied and 47% did not want to attend school due to alopecia. Significantly more high-educated than low-educated families received pity from teachers and pupils (94% vs. 0%, P=0.004), and acceptance by pupils (81% vs. 0%, P=0.021). Conclusions: Alopecia is a severe, far-stretching side-effect of chemotherapy with physical, psychological and social consequences for children and parents. Parents should be better informed about occurrence and impact of alopecia. Extra attention is required to facilitate children's return to school. Healthcare providers should facilitate optimal supportive care through open dialogue and provision of educational m aterials for parents, children and their community.

Effectiveness of mini-open carpal tunnel release: An outcome study

Lieselotte R. van den Broeke,Willem. J. Theuvenet,Jan. J. van Wingerden 대한성형외과학회 2019 Archives of Plastic Surgery Vol.46 No.4

Background Carpal tunnel syndrome (CTS) is the most common peripheral entrapment neuropathy with a high morbidity and healthcare-related costs. Currently there is no consensus about the best treatment option. The purpose of this prospective cohort study conducted at a single institution was to evaluate the clinical outcomes and patient satisfaction following a mini-open carpal tunnel release for idiopathic CTS. Methods A total of 72 patients (53 female and 19 male patients; mean age, 57.8±15.3 years; range, 24–94 years) had a mini-open carpal tunnel release performed by a single senior surgeon between June 2015 and June 2016. The patients were evaluated preoperatively, and at 3 and 12 months post-intervention. At every follow-up, the Boston Carpal Tunnel Syndrome Questionnaire (BCTSQ) and visual analogue scale (VAS) scores for pain and satisfaction were completed. Digital sensibility (using Semmes- Weinstein monofilaments) was assessed and pinch and grip strengths were measured. Results Statistically significant and clinically relevant improvement was found in terms of digital sensibility, grip and pinch strength (except for 2-point pinch), BCTSQ scores and pain scores. The complication rate was minimal, and no major complications occurred. Two patients experienced recurrence. The availability of follow-up records (including patient-reported outcomes, BCTSQ and VAS scores, and the complication rate) at 1-year post-intervention varied between 69% and 74% (50–53 patients) depending on which parameter was assessed. Patient satisfaction was high (mean, 80.9±26.0; range, 0–100). Conclusions This study demonstrates that mini-incision carpal tunnel release is clinically effective in the short and long term.

Total Hip Arthroplasty with Cemented Dual Mobility Cup into a Fully Porous Multihole Cup with Variable Angle Locking Screws for Acetabular Fractures in the Frail Elderly

Mathias van den Broek,Kris Govaers 대한고관절학회 2023 Hip and Pelvis Vol.35 No.1

Purpose: The purpose was to examine the clinical and radiological outcomes after surgical treatment of acetabular fractures with total hip arthroplasty with a dual mobility cup cemented into a porous multihole cup in the population of frail elderly patients. Materials and Methods: A retrospective review of 16 patients who underwent surgery (mean age, 76.7 years) with a mean follow-up period of 36.9 months was conducted. Following surgery, patients underwent postoperative follow-up at six weeks, thre e, six, and 12 months and clinical and radiological examinations were performed. Results: Classification of fractures was based on the Letournel classification. Following surgery, all patients were allowed weight-bearing as tolerated immediately postoperative. Fourteen patients showed maintenance of preoperative mobility status at one year. The mean Harris hip score was 64.8 (range, 34.7-82.8) and 80.0 (range, 60.8-93.8) at three months and one year, respectively. The mortality rate was 12.5% at one year (2/16). Complications included heterotopic ossification (2/16), deep venous thrombosis (1/16), heamatoma (1/16), and femoral revision due to a Vancouver B2 fracture (1/16). No case of deep infection, dislocation, or implant loosening was reported. Conclusion: Total hip arthroplasty using a dual mobility cup cemented into a porous multihole cup with locking screws resulted in a stable construct with a capacity for immediate weight-bearing as tolerated with rapid relief of pain. The findings of this study suggest that this procedure can be regarded as a safe method that has shown promising clinical and radiological outcomes for treatment of patients with medical frailty.

Subchondral Insufficiency Fracture in the Lateral Compartment of the Knee in a 64-Year-Old Marathon Runner

Vincent VG An,Mathias van den Broek,Sam Oussedik 대한슬관절학회 2017 대한슬관절학회지 Vol.29 No.4

A 64-year-old marathon runner presented to our clinic with a history of worsening pain in her left knee. Following magnetic resonance imaging, the diagnosis of subchondral insufficiency fracture of the knee (SIFK) was made. A course of conservative management via bisphosphonates was initiated. The patient successfully recovered and returned to full athletic function, having recently returned to competitive marathon running. This article aims to present this unusual case of lateral compartment SIFK and summarise the literature on this uncommon condition.

THE PERFORMANCE COMPARISON BETWEEN POSITIVE DISPLACEMENT PUMP AND CENTRIFUGAL PUMP USED FOR ORGANIC RANKINE CYCLE

Man Ki Heo,Byung Sik Park,Dong Hyun Lee,S. Lecompte,D. Ziviani,M. De Paepe,M. van den Broek 한국신재생에너지학회 2013 AFORE Vol.2013 No.-

Oncological and functional outcomes of transanal total mesorectal excision in a teaching hospital in the Netherlands

Joost A.G. van der Heijden,Kelly G.H. van de Pas,Frank J.C. van den Broek,Francois M.H. van Dielen,Gerrit D. Slooter,Adriana J.G. Maaskant-Braat 대한대장항문학회 2022 Annals of Coloproctolgy Vol.38 No.1

Purpose: Transanal total mesorectal excision (TaTME) was developed to overcome surgical difficulties experienced in distal pelvic dissection. Concerns have been raised about potential worse postoperative functional outcomes after TaTME. Also, the oncological safety was questioned. This study aimed to describe the functional, surgical, oncological outcomes and quality of life (QoL) after TaTME. Methods: All consecutive TaTME cases for rectal cancer without disseminated disease between December 2016 and April 2019 were included. The Wexner incontinence score, low anterior resection syndrome (LARS) score, fecal incontinence-related QoL, and the European Organisation for Research and Treatment of Cancer Quality of Life Questionnaire-core questionnaire and 29-item module (EORTC QLQ-C30/CR29) were collected. Kaplan-Meier analysis was used to calculate local recurrence-free survival. Results: Thirty patients were eligible for analysis of which 23 received questionnaires. Response rate was 74%. After a median follow-up of respectively 20.0 and 23.0 months for functional and oncological outcomes, the median (interquartile range) of Wexner incontinence and LARS scores were 9.0 (7.0–12.0) and 33.1 (25.0–39.0). Major LARS was present in 73.3%. Fecal incontinence, general and colorectal-specific QoL subdomains that are associated with poor bowel function scored in line with previously reported data. The 2-year actuarial cumulative local recurrence rate was 3.7% (95% confidence interval, 2.4%–5.0%). Conclusion: TaTME may lead to significant functional impairments. Patients should receive preoperative counseling on this topic and be fully aware of the potential consequences of their treatment. Oncological data were in line with other short- to moderate-term data and did not show alarming results.

Accelerated mass loss from Greenland ice sheet: Links to atmospheric circulation in the North Atlantic

Seo, K.W.,Waliser, D.E.,Lee, C.K.,Tian, B.,Scambos, T.,Kim, B.M.,van Angelen, J.H.,van den Broeke, M.R. Elsevier 2015 Global and planetary change Vol.128 No.-

Understanding the mechanisms that drive the mass imbalance of the Greenland ice sheet (GrIS) is critical to the accurate projection of its contribution to future sea level rise. Greenland's ice mass loss has been accelerating recently. Using satellite Earth-gravity and regional climate model data, we show that the acceleration rate of Greenland ice mass loss from 2003 to 2012 is -13.9+/-2.0Gt/yr<SUP>2</SUP>, which results mainly from an increase of meltwater runoff (-6.3+/-1.1Gt/yr<SUP>2</SUP>) and a decrease of precipitation (-4.8+/-1.1Gt/yr<SUP>2</SUP>). Before the extreme surface melting in the summers of 2010 and 2012, the decrease of precipitation (-9.7+/-2.5Gt/yr<SUP>2</SUP>) was a larger contributor to the ice mass loss acceleration than the increase of runoff (-2.1+/-2.2Gt/yr<SUP>2</SUP>). Furthermore, we show that the North Atlantic Oscillation (NAO) is linked to the precipitation decrease during summer, and its recent influence to Greenland is anomalously large possibly due to the change in atmospheric circulation in the North Atlantic. These results indicate that inter-annual climate variability is playing a significant role in the recently observed Greenland ice mass loss acceleration, underscoring the difficulty of projecting future sea level rise based on the recent observations of GrIS mass loss.