Thoracoscopic lobectomy for congenital pulmonary airway malformations before or after 5 months of age: evaluation of pulmonary function.

Background: Congenital pulmonary airway malformation (CPAM) is the most common pulmonary malformation. It can be managed via thoracoscopic lobectomy, which is safe and advantageous over thoracotomy. Some authors advocate the need for early resection to get an advantage over lung growth.

Pregnancy in primary immunodeficiency diseases: The PREPI study.

Background: Primary immunodeficiencies (PID) are a heterogeneous group of rare inborn immunity defects. As management has greatly improved, morbidity and mortality are reduced in this population, while our knowledge on pregnancy's unfolding and outcome remains scarce.

Objective: We conducted a retrospective monocentric study to study pregnancy outcomes in women with PID.

Prevention and management of post-thyroidectomy cervical haematoma. Recommendations of the AFCE (Association francophone de chirurgie endocrinienne) with the SFE (Société française d'endocrinologie) and the SFMN (Société française de médecine nucléaire).

Post-thyroidectomy cervical haematoma (PTCH) requiring reoperation occurs in fewer than 5% of patients but can be fatal or leave severe neurological sequelae if compressive. Risk factors besides anticoagulant treatments are discussed. Preoperative prevention complies with the recommendations of the French Society of Anaesthesia and Resuscitation (SFAR) for the management of antiaggregants and anticoagulants before and after the operation.

Unexpected Increase in Invasive Group A Streptococcal Infections in Children After Respiratory Viruses Outbreak in France: A 15-Year Time-Series Analysis.

In a 15-year pediatric time-series analysis, we showed a rise of invasive Group A streptococcal (iGAS) infections since October 2022, mainly involving pleural empyema, simultaneously to a respiratory virus outbreak. Physicians should be aware of this increased risk of pediatric iGAS infections, especially in settings with intense respiratory viruses' circulation.

Extent of thyroidectomy: When should hemithyroidectomy be performed? Recommendations from the Francophone Association for Endocrine Surgery, the French Society of Endocrinology and the French Society of Nuclear Medicine.

These recommendations, drawn from current data in the medical literature, incorporate the risks of hemithyroidectomy (HT) and total thyroidectomy (TT) and clarify the place of these two procedures in clinical settings. Discussions leading to a consensus were then assessed by the Francophone Association for Endocrine Surgery (Association francophone de chirurgie endocrinienne [AFCE]), along with the French Society of Endocrinology (Société française d'endocrinologie [SFE]), and the French Society of Nuclear Medicine (Société française de médecine nucléaire [SFMN]). The complication rate was twice as high after TT compared to HT.

Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey.

Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder characterised by hypotonia, speech problems, intellectual disability and mental health issues like regression, autism and mood disorders. In the development, implementation and dissemination of a new clinical guideline for a rare genetic disorder like PMS, the parental experienced perspective is essential. As information from literature is scarce and often conflicting the European Phelan-McDermid syndrome guideline consortium created a multi-lingual survey for parents of individuals with PMS to collect their lived experiences with care needs, genotypes, somatic issues, mental health issues and parental stress.

Viral Identification Using Multiplex Polymerase Chain Reaction Testing Does Not Reduce Antibiotic Prescribing in Paediatric Intensive Care Units.

PCR tests for viral identification, performed on nasopharyngeal secretions, have experienced a major boom in the last few years. Their use is very frequent, but their indications are still not well defined, especially in Paediatric Intensive Care Units (PICU). These tests are used for the microbiological diagnosis of lower respiratory infections but can be used in other situations.

Biallelic loss of function variants are responsible for neonatal systemic hypertension.

Background: Early-onset isolated systemic hypertension is a rare condition of unknown genetic origin. Renovascular, renal parenchymal diseases or aortic coarctation are the most common causes of secondary systemic hypertension in younger children and neonates. We investigated the genetic bases of early-onset isolated systemic hypertension.

Perampanel outcomes at different stages of treatment in people with focal and generalized epilepsy treated in clinical practice: Evidence from the PERMIT study.

Introduction: The PERMIT study is the largest pooled analysis of perampanel (PER) clinical practice data conducted to date.

Methods: This analysis of PERMIT investigated the effectiveness, safety and tolerability of PER when used as early add-on therapy (after failure of one or two previous antiseizure medications) in comparison with late add-on therapy (after failure of three or more previous antiseizure medications). Retention and effectiveness were assessed after 3, 6, and 12 months, and at the last visit (last observation carried forward).

Functional specialization of short-lived and long-lived macrophage subsets in human tonsils.

Macrophages play a central role in tissue homeostasis and host defense. However, the properties of human macrophages in non-diseased tissues remain poorly understood. Here, we characterized human tonsil macrophages and identified three subsets with distinct phenotype, transcriptome, life cycle, and function.

Decannulation in congenital central hypoventilation syndrome.

Rationale: Patients with congenital central hypoventilation syndrome (CCHS) require long-term ventilation to ensure gas exchange and to prevent deleterious consequences for neurocognitive development. Two ventilation modes may be used for these patients depending on their tolerance, one invasive by tracheostomy and the other noninvasive (NIV). For patients who have undergone a tracheostomy, transition to NIV is possible when they meet predefined criteria.

Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome.

The manifestations of Phelan-McDermid syndrome (PMS) are complex, warranting expert and multidisciplinary care in all life stages. In the present paper we propose consensus recommendations on the organization of care for individuals with PMS. We indicate that care should consider all life domains, which can be done within the framework of the International Classification of Functioning, Disability and Health (ICF).

Plasma lysosphingolipids in GRN-related diseases: Monitoring lysosomal dysfunction to track disease progression.

GRN mutations are among the main genetic causes of frontotemporal dementia (FTD). Considering the progranulin involvement in lysosomal homeostasis, we aimed to evaluate if plasma lysosphingolipids (lysoSPL) are increased in GRN mutation carriers, and whether they might represent relevant fluid-based biomarkers in GRN-related diseases. We analyzed four lysoSPL levels in plasmas of 131 GRN carriers and 142 non-carriers, including healthy controls and patients with frontotemporal dementias (FTD) carrying a C9orf72 expansion or without any mutation.

YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.

Purpose: Miller-Dieker syndrome is caused by a multiple gene deletion, including PAFAH1B1 and YWHAE. Although deletion of PAFAH1B1 causes lissencephaly unambiguously, deletion of YWHAE alone has not clearly been linked to a human disorder.

Methods: Cases with YWHAE variants were collected through international data sharing networks.

Renal vein thrombosis in neonates: a case series of diagnosis, treatment and childhood kidney function follow-up.

Background: Neonatal renal vein thrombosis (NRVT) is a rare condition with little data available.

Methods: We retrospectively analyzed newborns diagnosed with NRVT admitted to 3 pediatric nephrology units in Paris from 2005 to 2020.

Results: Twenty-seven patients were analyzed (male = 59%).

Transversus Abdominis Plane Block in the Treatment of Chronic Postsurgical Abdominal Wall Pain Improves Patient Quality of Life: A Retrospective Study and Literature Review.

Background: Although poorly studied, chronic postsurgical neuropathic pain (CPNP) represents the second most frequent chronic neuropathic pain etiology, probably affecting 0.5% to 75% of patients with a severe impact on quality of life (QoL). No consensus or treatment algorithm has been elaborated to date, despite a large variety of approaches now available.

High amylase concentration in drainage liquid can early predict proximal and distal intestinal anastomotic leakages: A prospective observational study.

Background: Anastomotic leak (AL) is a serious complication in digestive surgery. Early diagnosis might allow clinicians to anticipate appropriate management. The aim of this study was to assess the predictive value of amylase concentration in drain fluid for the early diagnosis of digestive tract AL.

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.

The vast majority of human genes encode multiple isoforms through alternative splicing, and the temporal and spatial regulation of those isoforms is critical for organismal development and function. The spliceosome, which regulates and executes splicing reactions, is primarily composed of small nuclear ribonucleoproteins (snRNPs) that consist of small nuclear RNAs (snRNAs) and protein subunits. snRNA gene transcription is initiated by the snRNA-activating protein complex (SNAPc).

A gait functional classification of adolescent idiopathic scoliosis (AIS) based on spatio-temporal parameters (STP).

Background: Therapeutic decisions for patients with adolescent idiopathic scoliosis (AIS) are mostly based on static measurements performed on two-dimensional standing full-spine radiographs. However, the trunk plays an essential role in the human locomotion, and the functional consequences during daily activities of this specific and common spinal deformity are not factored in.

Research Question: Does patients with AIS have specific gait patterns based on spatio-temporals parameters measurements ?

Methods: 90 AIS patients (aged 10-18 years) with preoperative simplified gait analysis were retrospectively included for analysis between 2017 and 2020.