Surfactant protein B deficiency: the RespiRare cohort.

Childhood interstitial lung diseases (chILD) are rare and usually severe disorders. Among them, very rare cases of surfactant protein (SP)-B deficiencies have been reported so far and are usually associated with fatal forms of chILD. The RespiRare network allows the collection of precise phenotypic and genotypic information.

Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar Pathologies.

Plasma membrane calcium ATPases (PMCAs) encoded by ATP2B genes have been implicated in Mendelian diseases with ataxia, dystonia, and intellectual disability. Work to date has shown that ATP2B2 (encoding PMCA2) is required for synaptic function and Purkinje-cell integrity in the cerebellum. A recent case series has linked ATP2B2 to a novel entity, characterized by neurodevelopmental and movement phenotypes, in only seven individuals.

Findings from the individualized management of a patient with Acyl-CoA Oxidase-1 (ACOX1) deficiency: A bedside-to-bench-to-bedside strategy.

Acyl-CoA Oxidase-1 (ACOX1) deficiency (MIM 264470) is an autosomal recessive disease characterized by impairments in the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs, which is the first step in the catalysis of the β-oxidative breakdown of very long chain fatty acids (VLCFA) occuring in peroxisomes. The deleterious accumulation of VLCFA in several organs, including the brain, is a key biochemical feature of this disease which has devastating neurological consequences. ACOX1 deficiency is ultra-rare; as such, few studies have been conducted to determine the leading causes of symptoms or uncover new therapeutics.

The impact of pregnancy and childbirth on stress urinary incontinence in women previously submitted to mid-urethral sling: A systematic review and metanalysis.

Introduction: There is no guideline or clinical consensus concerning the mid-urethral sling (MUS) operation for stress urinary incontinence (SUI) and future pregnancies. The aim of this systematic review and metanalysis is to evaluate the impact of pregnancy and of delivery on SUI in women who previously sustained a MUS surgery.

Methods: We performed a systematic review and meta-analysis, according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2020 guidelines, and selected seven publications for inclusion in the analysis.

Vaginal Hysterectomy and Pelvic Organ Prolapse: History and Recent Developments.

Introduction And Hypothesis: Vaginal hysterectomy (VH) was described as far back as 120 CE. However, it was not till the mid-1900s when reconstructive procedures were introduced to mitigate the risk of, or treat, pelvic organ prolapse in relation to VH. Furthermore, routine hysterectomy, particularly VH, has long been advocated in prolapse surgery.

Self-care of vaginal pessary for pelvic organ prolapse: a systematic review and meta-analysis.

Introduction: There is no evidence about the efficacy of self-care of vaginal pessary in women with symptomatic pelvic organ prolapse (POP). The aim of this systematic review and meta-analysis is to assess the adherence to pessary treatment among women who engage in self-management of their pessary.

Methods: We performed a systematic review and meta-analysis, according to PRISMA 2020 guidelines, and selected seven publications for inclusion in the analysis.

A comparison between the vaginal patch plastron associated with the anterior sacrospinous fixation and the Uphold™ LITE vaginal support system for the treatment of advanced anterior vaginal wall prolapse.

Objective: The aim of the present study was to compare efficacy and safety of the vaginal patch plastron (VPP) associated to the anterior sacrospinous fixation (SSLF-A) with a TVM procedure (Uphold™ LITE support-system) for the treatment of the advanced anterior vaginal wall prolapse.

Study Design: Single-center retrospective study. Women with symptomatic anterior prolapse ≥ III stage according to the POP-quantification (POP-Q) system and submitted to the VPP associated with the SSLF-A or to the Uphold™ procedure were included.

Closed- or open-glottis pushing for vaginal delivery: a planned secondary analysis of the TRAnexamic Acid for Preventing postpartum hemorrhage after vaginal delivery study.

Background: The effect on obstetrical outcomes of closed- or open-glottis pushing is uncertain among both nulliparous and parous women.

Objective: This study aimed to assess the association between open- or closed-glottis pushing and mode of delivery after an attempted singleton vaginal birth at or near term.

Study Design: This was an ancillary planned cohort study of the TRAAP (TRAnexamic Acid for Preventing postpartum hemorrhage after vaginal delivery) randomized controlled trial, conducted in 15 French maternity units from 2015 to 2016 that enrolled women with an attempted singleton vaginal delivery after 35 weeks' gestation.

The transvaginal mesh: an overview of indications and contraindications for its use.

Introduction: In recent decades, concerns about safety of synthetic non-absorbable materials transvaginally implanted emerged. We aim to define the actual role of synthetic non-absorbable transvaginal mesh (TVM) for pelvic organ prolapse (POP) and mid-urethral sling (MUS) for stress urinary incontinence (SUI), in relation with the worldwide legislative evolution.

Areas Covered: While in the United Kingdom MUS is not considered the first-line surgical option, other countries adopt MUS as the main procedure.

Long-Term Assessment of Pelvic Organ Prolapse Reoperation Risk in Obese Women: Vaginal and Laparoscopic Approaches.

The aim of this study was to compare reoperation risks after pelvic organ prolapse repair at 5-year follow-up between obese, overweight, and normal-weight women and to assess these risks accounting for the surgical procedure. We performed a retrospective chart review of all the women who underwent POP repair by transvaginal mesh surgery between January 2005 and January 2009 or laparoscopic sacrocolpopexy between January 2003 and December 2013 at the Gynecologic Surgery Department of the Lille University Hospital. During the study period, 744 women who underwent POP repair were divided into three groups: 382 (51%), 240 (32%), and 122 (16%) in the nonobese group (BMI < 25 kg/m²), overweight group (25 kg/m² ≤ BMI < 30 kg/m²), and obese group (BMI ≥ 30 kg/m²), respectively.

The Vaginal Patch Plastron Associated to the Anterior Sacrospinous Ligament Fixation for the Treatment of Advanced Anterior Vaginal Wall Prolapse.

Background: this study aims to compare the efficacy and safety of vaginal patch plastron (VPP) associated to anterior sacrospinous ligament fixation (SSLF-A) with SSLF-A associated or not to the anterior colporrhaphy (AC) for cystocele treatment. Methods: single-center retrospective study in women with cystocele ≥ III stage submitted to surgery. The primary outcome was to compare objective and subjective cystocele relapse and reoperation rate at follow-up > 6 months.

Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.

X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle defect. The disease severity ranges from asymptomatic carrier state to severe neonatal presentation with hyperammonaemic encephalopathy. We audited the diagnosis and management of OTCD, using an online 12-question-survey that was sent to 75 metabolic centres in Turkey, France and the UK.

Long-Term Outcomes after Pelvic Organ Prolapse Repair in Young Women.

The aim of the study was to describe the long-term outcomes of Pelvis Organ Prolapse (POP) repair in women under 40 years old. A retrospective chart review of all POP repairs performed in women ≤40 years old between January 1997 and December 2015 in the Gynecologic Surgery Department of Lille University Hospital was performed. Inclusion criteria were all women ≤40 years old who underwent a POP repair with a stage ≥2 POP according to the Baden and Walker classification.

Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium.

The SARS-CoV-2 pandemic challenges healthcare systems worldwide. Within inherited metabolic disorders (IMDs) the vulnerable subgroup of intoxication-type IMDs such as organic acidurias (OA) and urea cycle disorders (UCD) show risk for infection-induced morbidity and mortality. This study (observation period February 2020 to December 2021) evaluates impact on medical health care as well as disease course and outcome of SARS-CoV-2 infections in patients with intoxication-type IMDs managed by participants of the European Registry and Network for intoxication type metabolic diseases Consortium (E-IMD).

A case of pink urine associated with abdominal pain crisis.

An adolescent girl consults a physician for abdominal pain attacks occurring regularly for 2 years. After eliminating gastroenterologic or gynecologic causes, an acute hepatic porphyria is suspected. The pink color of her urine seems consistent with the suspicion of porphyria; however, the urinary profile of porphyrins and its precursors is normal.

A novel variant associated with an atypical moderate and late-onset LCHAD deficiency.

Background: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a rare inherited disease caused by pathogenic variants of gene. Along with signs common to fatty acid oxidation defects (FAOD), specific retina and heart alterations are observed. Because long-chain fatty acid oxidation is selectively affected, supplementations with short/medium-chain fats represent energetic sources bypassing the enzymatic blockade.

Systemic Steroids in Preventing Bronchopulmonary Dysplasia (BPD): Neurodevelopmental Outcome According to the Risk of BPD in the EPICE Cohort.

Background: Postnatal steroids (PNS) have been used to prevent bronchopulmonary dysplasia (BPD) in preterm infants but have potential adverse effects on neurodevelopment. These effects might be modulated by their risk of BPD. We aimed to compare patients' neurodevelopment with PNS treatment according to their risk of BPD in a European cohort.

Epidemiology and complications of anaesthesia in the French centres that participated to NECTARINE: A secondary analysis.

Introduction: Neonatal and infant anaesthesia are associated with a high risk of perioperative complications. The aim of the current study was to describe those risks in France using the French data from the NECTARINE study.

Material And Methods: Data from the French centres that participated to the NECTARINE study were analysed.

How does magnetically controlled growing rods insertion affect sagittal alignment in ambulatory early onset scoliosis patients?

Purpose: The importance of sagittal alignment restoration in early onset scoliosis (EOS) management has rarely been investigated to date. The aim was to report the influence of magnetically controlled growing rods (MCGR) insertion on the sagittal alignment of EOS patients.

Methods: All consecutive ambulatory patients operated with MCGR rods between 2011 and 2018 were retrospectively included in four institutions.

Pediatric Home Parenteral Nutrition in France: A six years national survey.

Background And Aims: Home Parenteral Nutrition (HPN) is the cornerstone management for children suffering from chronic intestinal failure (CIF). In France, HPN is organized from a network of 7 certified centers located in University Hospitals spread across the national territory. This study aims to review the data involving children on HPN over a 6-years period in France to outline the global and continuous improvement in care.

Palpable Nodules After Autologous Fat Grafting in Breast Cancer Patients: Incidence and Impact on Follow-up.

Introduction: Autologous fat grafting (AFG) is a promising breast reconstruction technique, following surgery. However, fat necrosis after AFG can cause palpable nodules, inducing anxiety and prompting additional investigations. We aimed to determine the occurrence rate and to identify the risk factors of palpable nodules in breast cancer patients prompting complementary explorations.