Omics-driven onboarding of the carotenoid producing red yeast Xanthophyllomyces dendrorhous CBS 6938.

Transcriptomics is a powerful approach for functional genomics and systems biology, yet it can also be used for genetic part discovery. Here, we derive constitutive and light-regulated promoters directly from transcriptomics data of the basidiomycete red yeast Xanthophyllomyces dendrorhous CBS 6938 (anamorph Phaffia rhodozyma) and use these promoters with other genetic elements to create a modular synthetic biology parts collection for this organism. X.

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.

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.

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.

Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants.

Background And Objective: Pediatric cardiomyopathies are clinically heterogeneous heart muscle disorders associated with significant morbidity and mortality for which substantial evidence for a genetic contribution was previously reported. We present a detailed molecular investigation of a cohort of 231 patients presenting with primary cardiomyopathy below the age of 18 years.

Methods: Cases with pediatric cardiomyopathies were analyzed using a next-generation sequencing (NGS) workflow based on a virtual panel including 57 cardiomyopathy-related genes.

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.

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.

Unique or multiple congenital facial skin polyps are features of several rare syndromes, from the most well-known Pai syndrome (PS), to the less recognized oculoauriculofrontonasal syndrome (OAFNS), encephalocraniocutaneous lipomatosis (ECCL), or Sakoda complex (SC). We set up a research project aiming to identify the molecular bases of PS. We reviewed 27 individuals presenting with a syndromic frontonasal polyp and initially referred for PS.

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.

Ambient Air Pollution and Dysanapsis: Associations with Lung Function and Chronic Obstructive Pulmonary Disease in the Canadian Cohort Obstructive Lung Disease Study.

Outdoor air pollution is a potential risk factor for lower lung function and chronic obstructive pulmonary disease (COPD). Little is known about how airway abnormalities and lung growth might modify this relationship. To evaluate the associations of ambient air pollution exposure with lung function and COPD and examine possible interactions with dysanapsis.

Genetic factors contributing to late adverse musculoskeletal effects in childhood acute lymphoblastic leukemia survivors.

Background: A substantial number of survivors of childhood acute lymphoblastic leukemia (ALL) suffer from treatment-related late adverse effects. While multiple studies have identified the effects of chemotherapeutics and radiation therapy on musculoskeletal outcomes, few have investigated their associations with genetic factors.

Methods: Here we analyzed musculoskeletal complications in relation to common and rare genetic variants derived through whole-exome sequencing of the PETALE cohort.

A novel synonymous variant in exon 1 of gene results in a cryptic splice site and causes pseudohypoparathyroidism type 1A and pseudo-pseudohypoparathyroidism in a French family.

Introduction: Pseudohypoparathyroidism type 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP) (Inactivating PTH/PTHrP Signaling Disorders type 2, IPPSD2) are two rare autosomal disorders caused by loss-of-function mutations on either maternal or paternal allele, respectively, in the imprinted gene, which encodes the α subunit of the ubiquitously-expressed stimulatory G protein (Gαs).

Case Presentation: We investigated a synonymous variant NM_001077488.2: c.

Dyspnoea and symptom burden in mild-moderate COPD: the Canadian Cohort Obstructive Lung Disease Study.

Studies assessing dyspnoea and health-related quality of life (HRQoL) in chronic obstructive pulmonary disease (COPD) have focussed on patients in clinical settings, not the general population. The aim of this analysis was to compare the prevalence and severity of dyspnoea and impaired HRQoL in individuals with and without COPD from the general population, focussing on mild-moderate COPD. Analysis of the 3-year Canadian Cohort Obstructive Lung Disease (CanCOLD) study included four subgroups: mild COPD (Global Initiative for Chronic Obstructive Lung Disease (GOLD) 1); moderate COPD (GOLD 2); non-COPD smokers; and non-COPD never-smokers.

High eosinophil counts predict decline in FEV: results from the CanCOLD study.

Introduction: The aim of this study was to examine the association between blood eosinophil levels and the decline in lung function in individuals aged >40 years from the general population.

Methods: The study evaluated the eosinophil counts from thawed blood in 1120 participants (mean age 65 years) from the prospective population-based Canadian Cohort of Obstructive Lung Disease (CanCOLD) study. Participants answered interviewer-administered respiratory questionnaires and performed pre-/post-bronchodilator spirometric tests at 18-month intervals; computed tomography (CT) imaging was performed at baseline.

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.

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).

Lung function in Birt-Hogg-Dubé syndrome: a retrospective analysis of 96 patients.

Background: Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder caused by mutations in the FLCN gene coding for folliculin. Its clinical expression includes cutaneous fibrofolliculomas, renal tumors, multiple pulmonary cysts, and recurrent spontaneous pneumothoraces. Data on lung function in BHD are scarce and it is not known whether lung function declines over time.

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.