Predictors of low and very low bone mineral density in long-term childhood acute lymphoblastic leukemia survivors: Toward personalized risk prediction.

BACKGROUND: Cohorts of childhood acute lymphoblastic leukemia (cALL) survivors reaching adulthood are increasing. Approximately 30% of survivors meet criteria for low bone mineral density (BMD) 10 years after diagnosis. We investigated risk factors for low BMD in long-term cALL survivors. METHODS: We recruited 245 cALL survivors from the PETALE (Prévenir les effets tardifs des traitements de la leucémie aiguë lymphoblastique chez l'enfant) cohort, who were treated with the Dana Farber Cancer Institute protocols, did not experience disease relapse or hematopoietic stem cell transplants, and presented with more than 5 years of event-free survival. Median time since diagnosis was 15.1 years. RESULTS: Prevalence of low DXA-derived BMD (Z-score ≤-1) ranged between 21.9% and 25.3%, depending on site (lumbar spine (LS-BMD), femoral neck (FN-BMD), and total body (TB-BMD), and between 3.7% and 5.8% for very low BMD (Z-score ≤-2). Males had a higher prevalence of low BMD than females for all three outcomes (26%-32% vs. 18%-21%), and male sex acted as a significant risk factor for low BMD in all models. Treatment-related factors such as cumulative glucocorticoid (GC) doses and cranial radiation therapy (CRT) were associated with lower BMDs in the full cohort and in females at the FN-BMD site. CONCLUSION: Low and very low BMD is more prevalent in male cALL survivors. Male sex, high cumulative GC doses, CRT, risk group, and low body mass index (BMI) were identified as risk factors for low BMD. A longer follow-up of BMD through time in these survivors is needed to establish if low BMD will translate into a higher risk for fragility fractures through adulthood.

Recommendations of the SUFU/AUGS/ICS Female Stress Urinary Incontinence Surgical Publication Working Group: A common standard minimum data set for the literature.

INTRODUCTION AND OBJECTIVES: Relevant, meaningful, and achievable data points are critical in objectively assessing quality, utility, and outcomes in female stress urinary incontinence (SUI) surgery. A minimum data set female SUI surgery studies was proposed by the first American Urological Association guidelines on the surgical management of female SUI in 1997, but recommendation adherence has been suboptimal. The Female Stress Urinary Incontinence Surgical Publication Working Group (WG) was created from members of several prominent organizations to formulate a recommended standard of study structure, description, and minimum outcome data set to be utilized in designing and publishing future SUI studies. The goal of this WG was to create a body of evidence better able to assess the outcomes of female SUI surgery. METHODS: The WG reviewed the minimum data set proposed in the 1997 AUA SUI Guideline document, and other relevant literature. The body of literature was examined in the context of the profound changes in the field over the past 25 years. Through a DELPHI process, a standard study structure and minimum data set were generated. Care was taken to balance the value of several meaningful and relevant data points against the burden of creating an excessively difficult or restrictive standard that would disincentivize widespread adoption and negatively impact manuscript production and acceptance. RESULTS: The WG outlined standardization in four major areas: (1) study design, (2) pretreatment demographics and characterization of the study population, (3) intraoperative events, and (4) posttreatment evaluation, and complications. Forty-two items were evaluated and graded as: STANDARD-must be included; ADDITIONAL-may be included for a specific study and is inclusive of the Standard items; OPTIMAL-may be included for a comprehensive study and is inclusive of the Standard and Additional items; UNNECESSARY/LEGACY-not relevant. CONCLUSIONS: A reasonable, achievable, and clinically meaningful minimum data set has been constructed. A structured framework will allow future surgical interventions for female SUI to be objectively scrutinized and compared in a clinically significant manner. Ultimately, such a data set, if adopted by the academic community, will enhance the quality of the scientific literature, and ultimately improve short and long-term outcomes for female patients undergoing surgery to correct SUI.

Canadian Experience with the Adjustable Transobturator Male System for Post-Prostatectomy Incontinence: A Multicenter Study.

PURPOSE: We assessed the efficacy and safety profile of the ATOMS® (Adjustable Transobturator Male System) for post-prostatectomy incontinence in a multicenter North American setting. MATERIALS AND METHODS: We reviewed outcomes from 8 centers in men who underwent treatment of post-prostatectomy incontinence with an ATOMS. Primary study outcomes were pad changes and continence, defined as requiring 1.0 or 0 pad postoperatively in patients who required 2.0 or more pads preoperatively and 0 pad in those who required more than 1.0 or 2.0 pads preoperatively. Secondary outcomes included improvement, 90-day complications and patient satisfaction. RESULTS: A total of 160 patients were enrolled in study with a median followup of 9.0 months. Preoperative median pad use was 4 per day (IQR 3-5). Of the patients 36.3% reported severe preoperative incontinence, 31.3% received prior radiotherapy and 16.3% underwent previous incontinence surgery. Median postoperative pad use after adjustments was 0.5 per day (IQR 0-1, p <0.001). The overall continence rate was 80.0% with improvement in 87.8% of cases. Of the patients 70.1% underwent a mean ± SD of 2.4 ± 2.7 adjustments (IQR 0-16). The patient satisfaction rate was 86.3%, 22.3% experienced 90-day complications of any grade and 7 (4.4%) experienced Clavien III complications primarily related to the injection port. Patients with a history of radiotherapy were less likely to be continent (62.5% vs 87.9%, p=0.002), improved (77.1% vs 92.6%, p=0.02) or satisfied (69.8% vs 93.2%, p=0.001). Similarly patients with previous incontinence surgery had lower rates of continence, improvement and satisfaction (57.7%, 73.1% and 69.6%, respectively). CONCLUSIONS: In the short term the ATOMS is a safe and efficacious device to treat post-prostatectomy incontinence. Patients with concurrent radiotherapy and previous incontinence surgery respond to treatment but are less likely to be continent, improved or satisfied.

Dual Therapy for Refractory Overactive Bladder in Children: A Prospective Open-Label Study.

PURPOSE: Mirabegron (ß3 adrenoreceptor agonist) is a new molecule with a mechanism of action distinct from antimuscarinics. Combination therapy with solifenacin was recently studied in an adult population. We evaluated the efficacy and safety of mirabegron as add-on therapy to treat urinary incontinence in children with idiopathic overactive bladder refractory/intolerant to antimuscarinics. MATERIALS AND METHODS: A prospective off-label study using add-on regimens of mirabegron was conducted in pediatric patients presenting with no symptom improvement while undergoing intensive behavioral and medical therapies and/or significant side effects while undergoing antimuscarinic dose escalation. Our primary outcome was better reported efficacy than with the use of prior antimuscarinic monotherapy. Secondary end points were tolerability, safety and satisfaction. Efficacy and tolerability were assessed based on voiding diaries, post-void residuals, urine cultures, electrocardiograms and vital signs. Families were questioned regarding continence, side effects and compliance. Wilcoxon signed-rank test was used for statistical analysis. RESULTS: A total of 35 patients were recruited at a median age of 10.3 years and were administered add-on mirabegron for a median of 16.4 months. Median bladder capacity improved from 50% to 74% expected bladder capacity (p <0.001). Continence improved in all patients, with 12 being completely dry. Post-void residual was increased in 2 patients and 1 urinary tract infection was reported. Seven patients reported mild or moderate side effects, with 2 withdrawals because of side effects (1 patient) and post-void residual (1). CONCLUSIONS: Add-on mirabegron appears to be a safe alternative for children with refractory overactive bladder. Dual therapy is well tolerated and adjusted dose regimen appears safe in this first pediatric study.

From individual coping strategies to illness codification: the reflection of gender in social science research on multiple chemical sensitivities (MCS).

INTRODUCTION: Emerging fields such as environmental health have been challenged, in recent years, to answer the growing methodological calls for a finer integration of sex and gender in health-related research and policy-making. METHODS: Through a descriptive examination of 25 peer-reviewed social science papers published between 1996 and 2011, we explore, by examining methodological designs and theoretical standpoints, how the social sciences have integrated gender sensitivity in empirical work on Multiple Chemical Sensitivities (MCS). MCS is a "diagnosis" associated with sensitivities to chronic and low-dose chemical exposures, which remains contested in both the medical and institutional arenas, and is reported to disproportionately affect women. RESULTS: We highlighted important differences between papers that did integrate a gender lens and those that did not. These included characteristics of the authorship, purposes, theoretical frameworks and methodological designs of the studies. Reviewed papers that integrated gender tended to focus on the gender roles and identity of women suffering from MCS, emphasizing personal strategies of adaptation. More generally, terminological confusions in the use of sex and gender language and concepts, such as a conflation of women and gender, were observed. Although some men were included in most of the study samples reviewed, specific data relating to men was undereported in results and only one paper discussed issues specifically experienced by men suffering from MCS. Papers that overlooked gender dimensions generally addressed more systemic social issues such as the dynamics of expertise and the medical codification of MCS, from more consistently outlined theoretical frameworks. Results highlight the place for a critical, systematic and reflexive problematization of gender and for the development of methodological and theoretical tools on how to integrate gender in research designs when looking at both micro and macro social dimensions of environmental health conditions. CONCLUSIONS: This paper contributes to a discussion on the methodological and policy implications of taking sex and gender into account appropriately in order to contribute to better equity in health, especially where the critical social contexts of definition and medico-legal recognition play a major role such as in the case of MCS.

Management of recurrent stress incontinence following a sling.

Management of recurrent or persistent stress urinary incontinence (RSI) following primary insertion of a synthetic midurethral sling (MUS) remains a challenge for the urologist since no consensus is available to favor one treatment over another. Complete workup should be carried out, including cystoscopy, urodynamics and potentially a pelvic floor ultrasound as a diagnostic adjunct. Various surgical options have been described for RSI, apart from another MUS, including tightening of or shortening a previously placed MUS, a mini-sling, a salvage spiral sling, a colposuspension, the ACT® system, an artificial urinary sphincter or ultimately a urinary diversion. Treatment depends ultimately on the experience and the expertise of the surgeon but it appears most reasonable to offer a repeat MUS (retropubic or transobturator), a pubovaginal sling or bulking agents to women with RSI. Appropriate counseling of patients to set realistic outcomes is key as it may be more practical to aim more for symptomatic improvement than cure.

Recommendations of the SUFU/AUGS/ICS Female Stress Urinary Incontinence Surgical Publication Working Group: A Common Standard Minimum Data Set for the Literature.

INTRODUCTION AND OBJECTIVES: Relevant, meaningful, and achievable data points are critical in objectively assessing quality, utility, and outcomes in female stress urinary incontinence (SUI) surgery. A minimum data set female SUI surgery studies was proposed by the first American Urological Association guidelines on the surgical management of female SUI in 1997, but recommendation adherence has been suboptimal. The Female Stress Urinary Incontinence Surgical Publication Working Group (WG) was created from members of several prominent organizations to formulate a recommended standard of study structure, description, and minimum outcome data set to be utilized in designing and publishing future SUI studies. The goal of this WG was to create a body of evidence better able to assess the outcomes of female SUI surgery. METHODS: The WG reviewed the minimum data set proposed in the 1997 AUA SUI Guideline document, and other relevant literature. The body of literature was examined in the context of the profound changes in the field over the past 25 years. Through a DELPHI process, a standard study structure and minimum data set were generated. Care was taken to balance the value of several meaningful and relevant data points against the burden of creating an excessively difficult or restrictive standard that would disincentivize widespread adoption and negatively impact manuscript production and acceptance. RESULTS: The WG outlined standardization in four major areas: 1) study design, 2) pretreatment demographics and characterization of the study population, 3) intraoperative events, and 4) post-treatment evaluation, and complications. Forty-two items were evaluated and graded as: STANDARD - must be included; ADDITIONAL - may be included for a specific study and is inclusive of the Standard items; OPTIMAL - may be included for a comprehensive study and is inclusive of the Standard and Additional items; UNNECESSARY/LEGACY - not relevant. CONCLUSIONS: A reasonable, achievable, and clinically meaningful minimum data set has been constructed. A structured framework will allow future surgical interventions for female SUI to be objectively scrutinized and compared in a clinically significant manner. Ultimately, such a data set, if adopted by the academic community, will enhance the quality of the scientific literature, and ultimately improve short and long-term outcomes for female patients undergoing surgery to correct SUI.

French version of the short form of the Neurogenic Bladder Symptom Score: Cross-cultural adaptation and validation.

INTRODUCTION: This study aimed to empirically validate a French version of the Neurogenic Bladder Symptoms Score-Short From (NBSS-SF), a psychometric multidimensional tool to assess lower urinary tract symptoms (LUTS) for patients with a neurological condition. METHODS: One hundred and five participants with multiple sclerosis or spinal cord injury prospectively completed the questionnaire at baseline and 7-14 days later. The α coefficient of Cronbach (internal consistency) and the intraclass correlation coefficient (ICC) (test-retest reliability) were calculated. RESULTS: The internal consistency for the overall questionnaire was high (Cronbach's α coefficients from 0.79), while coefficients for each subscale were variable (urinary incontinence 0.91; storage and voiding 0.69; consequences 0.25). For test-retest reliability, 88/105 (84%) patients filled and sent back their questionnaire 10 days (±3.6 days) after baseline version. ICC was 0.90 for the total score and was 0.73 for the urinary incontinence subdomain, 0.79 for storage and voiding, and 0.75 for consequences. CONCLUSIONS: The psychometric qualities of the French version of the NBSS-SF are well-supported, thus providing a valid tool to measure bladder symptoms across three different domains in patients with neurogenic bladder.

Perception and satisfaction of patients after telemedicine urology consultations: A matched analysis with physicians' perspective.

INTRODUCTION: During the first regional COVID-19 lockdown in March 2020, we conducted a study aimed at evaluating completeness of telemedicine consultation in urology. Of 1679 consultations, 67% were considered completely managed by phone. The aim of the present study was to assess patients' experience and satisfaction with telemedicine and to compare them with urologists' perceptions about quality and completeness of the telemedicine consultation. METHODS: We contacted a randomly selected sample of patients (n=356) from our previous study to enquire about their experience. We used a home patient experience questionnaire, inspired by the Patient Experiences Questionnaire for Out-of-Hours Care (PEQOHC) and the Consumer Assessment Health Profile Survey (CAHPS). RESULTS: Of 356 patients contacted, 315 agreed to complete the questionnaire. Urological consultations were for non-oncological (104), oncological (121), cancer suspicion (41), and pediatric (49) indications. Mean patient satisfaction score after telemedicine consultation was 8.8/10 (median 9/10) and 86.3% of patients rated the quality of the consultation as either excellent (54.6%) or very good (31.7%). Consultations regarding cancer suspicion had the lowest score (8.3/10). Overall, 46.7% of all patients would have preferred an in-person visit outside of the pandemic situation. Among patients whose consultations were rated suboptimal by urologists, almost a third more (31.2%) would have preferred an in-person visit (p=0.03). CONCLUSIONS: Despite high reported patient satisfaction rates with telemedicine, it is noteworthy that nearly half of the patients would have preferred an in-person visit. Post-pandemic, it will be important to incorporate telemedicine as an alternative, while retaining and offering in-person visits.

Modified scrotal (Bianchi) mid raphe single incision orchiopexy for low palpable undescended testis: early outcomes.

PURPOSE: We compared the results of low transscrotal mid raphe orchiopexy, high scrotal incision (Bianchi) and conventional inguinal approach in patients with palpable undescended testes. MATERIALS AND METHODS: Orchiopexies performed between January 2003 and September 2009 with a minimum 3-month followup were included. Low scrotal incision (group 1) and high scrotal incision (group 2) were compared to the traditional inguinal 2-incision technique (group 3). We retrospectively reviewed operative time, success as defined by mid or lower scrotal position of the testis, and complications at 12 weeks and 1 year postoperatively. RESULTS: A total of 286 orchiopexies were performed in 214 patients with palpable undescended testes. Group 1 included 81 patients with 125 undescended testes. Group 2 consisted of 44 patients with 60 undescended testes. Group 3 included 89 patients with 101 undescended testes. Postoperatively the testes were located in a good position within the scrotum in 99% of patients in group 1, 98% in group 2 and 100% in group 3. Mean±SD operative time for unilateral undescended testes was significantly shorter for low transscrotal compared to inguinal orchiopexy (28±10 vs 37±12 minutes, p<0.0001) but equivalent to a high scrotal incision (27±10 minutes, p=0.59). For all 160 children followed for 1 year no long-term atrophy or secondary reascent was observed. CONCLUSIONS: Low transscrotal mid raphe orchiopexy appears to be an excellent alternative to high scrotal incision or standard inguinal orchiopexy for low palpable undescended testes, especially bilateral cases.

Multicentered Assessment of Clinical Outcomes and Factors Associated With Failure of the Adjustable TransObturator Male System (ATOMS).

OBJECTIVE: To assess postoperative outcomes from the Adjustable TransObturator Male System (ATOMS) and identify factors influencing failure to achieve continence. PATIENTS AND METHODS: A multicentered analysis was performed on all patients treated for postprostatectomy incontinence using the third-generation ATOMS at 9 Canadian tertiary referral centers. The primary outcome was continence (defined as requiring ≤1 pad postoperatively for patients requiring ≥2 pads preoperatively and 0 pads for those requiring 1 pad preoperatively). Secondary outcomes included improvement (>50% change in pad use), patient satisfaction, explantation, and postoperative complications. RESULTS: Two hundred and eighty nine patients with a mean age of 68.9 years were analyzed. Pre-operatively mean pad per day use was 4.2 (1-12), 31.5% of patients reported severe incontinence (≥5 pads/day), 33.9% had concurrent radiotherapy and 19.4% had failed previous incontinence surgery. Overall continence rate was 73.3% (n = 212) at a mean follow-up of 19.6 months. More than eighty nine percent (89.3%) (n = 258) of patients experienced >50% improvement, 84.4% (n = 244) of patients were satisfied with the results of surgery. More than seven percent (7.9%) (n = 23) required device explantation. On multivariate Cox regression analysis, concurrent radiotherapy (hazard ratio [H.R.] 2.3, P < .001), diabetes (H.R. 2.2, P = .007) and increased pre-operative pad usage (H.R. 1.1, P = .02) were each associated with failure to achieve continence, while patient age (P = .60), obesity (P = .08), prior urethral stenosis (P = .56), and prior incontinence surgery (P = .13) were not. Radiation therapy was also associated with device explantation (H.R. 2.7, P = .02). CONCLUSION: ATOMS is a safe and efficacious for treatment of postprostatectomy incontinence. However, patients with prior radiation, increased pre-operative pad use, or diabetes are less likely to achieve continence.

Prospective open label study of solifenacin for overactive bladder in children.

PURPOSE: We evaluated the effect of solifenacin for urinary incontinence in children with overactive/neurogenic bladder refractory to oxybutynin or tolterodine. MATERIALS AND METHODS: Pediatric patients presenting with refractory overactive bladder with incontinence were offered the opportunity to enter a prospective, open label protocol using adjusted dose regimens of 1.25 to 10 mg solifenacin. Study inclusion criteria were absent correctable neurological anomalies on magnetic resonance imaging, failure of symptoms to improve on intensive behavioral and medical (oxybutynin or tolterodine) therapy, and/or significant side effects of those agents. Followup consisted of a voiding diary, post-void residual urine measurement, urine culture, ultrasound and urodynamics. Families were questioned about continence, side effects, compliance, behavior change and quality of life. The primary end point was efficacy for continence and secondary end points were tolerability and safety. RESULTS: Enrolled in the study were 42 girls and 30 boys. Of the patients 27 with neurogenic bladder, of whom 11 were on clean intermittent catheterization, and 45 with overactive bladder completed a minimum 3-month followup. Patients were on solifenacin a mean of 15.6 months. Mean age at study initiation was 9.0 years. Mean ± SD urodynamic capacity improved from 146 ± 64 to 311 ± 123 ml and uninhibited contractions decreased from 70 ± 29 to 20 ± 19 cm H(2)O (p <0.01). Continence improved in all patients, including 24 who were dry, and 42 and 6 who were significantly and moderately improved, respectively. Of the patients 50 reported no side effects while 15 had mild and 3 had moderate side effects. Four patients withdrew from the protocol due to intolerable side effects. Four patients had significant post-void residual urine (greater than 20 ml). CONCLUSIONS: In children with overactive bladder refractory to oxybutynin or tolterodine solifenacin is an effective alternative to improve symptoms. Tolerability was acceptable and the adjusted dose regimen appeared safe.

Exploring the patterns of practice and satisfaction among female urologists in Canada.

INTRODUCTION: Our aim was to explore the satisfaction, personal and professional challenges, and practice barriers among female urologists in Canada. METHODS: A literature review was completed to design our survey. Trends with respect to career and personal satisfaction were identified, including academic advancement, mentorship, professional challenges, workplace discrimination, family satisfaction, and remuneration, among others. These key themes were formatted into 44 questions, translated into French, and distributed electronically as a survey to 80 female urology staff across Canada. RESULTS: Sixty (75.0%) women completed the survey. Many had been in practice <5 years (44.1%) and 72.9% completed a fellowship. Overall, 96.6% of women were very or somewhat satisfied with their career. Seeing more time-consuming patients and financial constraints within the healthcare system were the greatest source of dissatisfaction. Two-thirds of respondents reported that they received significant mentorship and 40% found it difficult to find a mentor during their training. Overall, 65.0% experienced gender discrimination, most commonly from a colleague or a patient. Women who practiced in the community were more likely to report experiencing discrimination compared to women practicing in an academic setting (78.1% vs. 51.9%; p=0.034). Mean time for maternity leave was 17.1 (±8.3) weeks, and 30.2% reported a pregnancy-related complication triggered by their work. Overall, 66.1% would choose urology again. CONCLUSIONS: It is important to advocate for the wellness of female urologists. To accomplish this, we need to address the challenges revealed in the survey, including supporting women on maternity leave, improving mentorship, and prioritizing female urology leadership initiatives. We have established a formal circle of support within the urology community in Canada to achieve these goals.

A prospective, multisite study analyzing the percentage of urological cases that can be completely managed by telemedicine.

INTRODUCTION: The COVID-19 pandemic has accelerated the development of telemedicine due to confinement measures. However, the percentage of outpatient urological cases that could be managed completely by telemedicine outside of the COVID-19 pandemic remains to be determined. We conducted a prospective, multisite study involving all urologists working in the region of Quebec City. METHODS: During the first four weeks of the regional confinement, 18 pediatric and adult urologists were asked to determine, after each telemedicine appointment, if it translated into a complete (CCM), incomplete (ICM), or suboptimal case management (SCM, adequate only in the context of the pandemic). RESULTS: A total of 1679 appointments representing all urological areas were registered. Overall, 67.6% (95% confidence interval [CI] 65.3; 69.8), 27.1% (25.0; 29.3), and 4.3% (3.5; 5.4) were reported as CCM, SCM, and ICM, respectively. The CCM ratio varied according to the reason for consultation, with cancer suspicion (52.9% [42.9; 62.8]) and pediatric reasons (38.0% [30.0; 46.6]) showing the lowest CCM percentages. CCM percentages also varied significantly based on the setting where it was performed, ranging from 61.1% (private clinic) to 86.8% (endourology and general hospital). CONCLUSIONS: We show that two-thirds of all urological outpatient cases could be completely managed by telemedicine outside of the pandemic. After the pandemic, it will be important to incorporate telemedicine as an alternative for a patient's first or followup visit, especially those with geographical, pathological, and socioeconomic considerations.

Pregnancy outcomes of women with spina bifida.

PURPOSE: To assess the pregnancy outcomes of women with spina bifida. MATERIALS AND METHODS: We analyzed a population-based cohort of 397 pregnant women with spina bifida and 1,083,211 without spina bifida who delivered infants in hospitals in Quebec, Canada, 1989-2013. Outcomes included maternal and infant morbidity and mortality at delivery. We used log-binomial regression models to estimate prevalence ratios (PR) and 95% confidence intervals (CI) for the association of maternal spina bifida with pregnancy outcomes, accounting for maternal characteristics. RESULTS: Women with spina bifida had a higher prevalence of several adverse outcomes compared with women who had no birth defects. Maternal risks were highest for intensive care unit admission during the delivery hospitalization (PR 3.41, CI 95% 1.56-7.43) and respiratory morbidity (PR 9.46, CI 95% 3.31-26.99). Infant risks were greatest for intracranial hemorrhage (PR 6.85, CI 95% 2.23-21.08), birth hypoxia (PR 1.64, CI 95% 1.21-2.22), and hospital length of stay ≥14 days (PR 2.56, CI 95% 1.58-4.15). After adjustment for confounders, maternal spina bifida was associated with risk of oral clefts and abdominal wall defects in infants. CONCLUSIONS: Women with spina bifida have an increased risk of severe maternal and infant complications at delivery, compared with no spina bifida. Implications for Rehabilitation A growing number of women with spina bifida achieve pregnancy, but pregnancy outcomes are poorly understood. In a large pregnancy cohort, women with spina bifida had a high risk of severe maternal and infant morbidity at delivery. Women with spina bifida may benefit from enhanced periconceptional counseling and obstetric monitoring by health professionals. Guidelines should be developed for rehabilitation care providers to improve the obstetric management of women with spina bifida.

Identification of a single-nucleotide polymorphism within CDH2 gene associated with bone morbidity in childhood acute lymphoblastic leukemia survivors.

Aim: To identify genetic markers associated with late treatment-related skeletal morbidity in survivors of childhood acute lymphoblastic leukemia (ALL). Patients & methods: To this end, we measured the association between reduction in bone mineral density or vertebral fractures prevalence and variants from 1039 genes derived through whole exome sequencing in 242 childhood ALL survivors. Top-ranking variants were confirmed through genotyping, and further explored with stratified analyses and multivariable models. Results: The minor allele of rs1944294 in CDH2 gene was associated with bone geometrical parameter, trabecular cross-sectional area (p = 0.001). The association was modulated by radiation therapy (p = 0.001) and post-treatment time (p = 0.0002). Conclusion: The variant in CDH2 gene is a potential novel risk factor of bone morbidity in survivors of childhood ALL.

Identification of genetic variants associated with skeletal muscle function deficit in childhood acute lymphoblastic leukemia survivors.

Background: Although 80% of childhood acute lymphoblastic leukemia (ALL) cases are cured with current treatment protocols, exposure to chemotherapeutics or radiation therapy during a vulnerable period of child development has been associated with a high frequency of late adverse effects (LAE). Previous observations suggest important skeletal muscle size, density and function deficits in ALL survivors. Purpose: Given that only a fraction of all patients will suffer from this particular complication, we investigated whether it could be predicted by genetic markers.  Patients and methods: We analysed associations between skeletal muscle force (Fmax) and power (Pmax) and germline genetic variants from 1039 genes derived through whole-exome sequencing. Top-ranking association signals retained after correction for multiple testing were confirmed through genotyping, and further analysed through stratified analyses and multivariate models.  Results: Our results show that skeletal muscle function deficit is associated with two common single nucleotide polymorphisms (SNPs) (rs2001616DUOX2, P=0.0002 (Pmax) and rs41270041ADAMTS4, P=0.02 (Fmax)) and two rare ones located in the ALOX15 gene (P=0.001 (Pmax)). These associations were further modulated by sex, body mass index and risk groups, which reflected glucocorticoid dose and radiation therapy (P≤0.02).  Conclusion: Occurrence of muscle function deficit in childhood ALL is thus strongly modulated by variations in the DUOX2, ADAMTS4 and ALOX15 genes, which could lead to personalized prevention strategies in childhood ALL survivors.

The use of urodynamic studies for the followup of neurogenic bladders treated with onabotulinumtoxinA.

INTRODUCTION: Intradetrusor injection of onabotulinumtoxinA (BoNTA) is well-established as treatment for patients with neurogenic bladders. Urodynamics (UDS) is used at regular intervals during followup to monitor intravesical pressure. With regards to the discomfort and risks associated with UDS, our objective was to assess if UDS done at regular intervals in the followup of neurogenic bladders treated with BoNTA had an impact on management. METHODS: We retrospectively analyzed the medical records of adult patients with neurological disorders treated with BoNTA for either detrusor overactivity or low bladder compliance at the Institut de Réadaptation en Déficience Physique de Québec (IRDPQ). At our centre, UDS was routinely performed at baseline, three months after the first treatment, then three months after every fifth set of injections. RESULTS: We identified 57 patients with neurological disorder treated with intravesical BoNTA. Each patient had between one and 19 sets of injections (mean 5.61 injections) and 1-6 followup UDS (mean 2.09). Of the 119 followup UDS reviewed at our centre, three UDS (2.5%) resulted in a modification of the urinary tract management from BoNTA to bladder augmentation. Two regimens were suspended and one was ended due to patient preference. CONCLUSIONS: Our study showed that UDS at pre-set intervals for followup of patients receiving BoNTA injections were rarely associated with modifications in the treatment course. Therefore, UDS should only be performed in cases where there are changes in the patient's symptoms or if the urologist suspects that the treatment response is suboptimal.