Determinants of Positive Evolution of Symptoms in Children with Autism Spectrum Disorders (ASD) during the COVID-19 Lockdown in the Democratic Republic of Congo. (DRC).

Lockdown imposed by the COVID 19 pandemic increased the time families spent together at home. A negative impact of the lock-down on children with autism has been reported. Few studies described the positive impact of parents' presence on the severity of their children's autism symptoms during lockdown.

(Intravascular) papillary endothelial hyperplasia or Masson's tumour of the axilla in a patient with a history of breast cancer.

Intravascular papillary endothelial hyperplasia, or Masson's tumour, is a benign lesion of the subcutaneous tissue and skin, characterised by a reactive proliferation of endothelial cells within a vessel. Although this pathology can occur at various sites, it is generally rare. Differential diagnosis with other benign lesions or malignancies can be challenging, and since its circumscribed nature is impossible to recognise with a biopsy, excision is frequently required.

Pseudo-Bartter syndrome: A CFTR-related disorder?

This case report presents a 14-month-old boy with a history of cystic fibrosis (CF) carrier status, diagnosed following a positive newborn screening for CF (CF-NBS), who developed symptoms suggestive of Pseudo-Bartter syndrome (PBS). Despite initial evaluations not meeting CF diagnostic criteria, subsequent investigations revealed an intermediate sweat chloride concentration, a second CFTR mutation, and CFTR dysfunction through rectal organoid morphology analysis (ROMA) consistent with CFTR-related disorder (CFTR-RD). This case raises important considerations regarding the diagnosis and management of CFTR-RD.

Prospective evaluation of treatment strategies in patients presenting with chronic total occlusion at coronary angiogram: rationale, design and baseline data of the PETS-CTO Registry.

Background: Coronary chronic total occlusions (CTO) are associated with an increased chance of untreatable symptoms and worse prognosis. However, limited data are available about the interaction between treatment strategy, potential ischemia burden reduction and quality of life (QoL) improvement.

Methods: Our prospective registry aims to assess the potentially different impacts of treatment strategies (coronary artery bypass grafting vs.

Leukocyte telomere length and attrition in association with disease severity in cystic fibrosis patients.

Cystic fibrosis (CF) is characterized by chronic airway inflammation and premature aging. The link with leukocyte telomere length (LTL) as a marker of biological aging is unclear. We studied disease severity and LTL in 168 CF patients of which 85 patients had a second retrospective LTL assessment.

Single-cell RNA sequencing of cystic fibrosis liver disease explants reveals endothelial complement activation.

Background & Aims: Cystic fibrosis (CF) is considered a multisystemic disorder in which CF-associated liver disease (CFLD) is the third most common cause of mortality. Currently, no effective treatment is available for CFLD because its pathophysiology is still unclear. Interestingly, CFLD exhibits identical vascular characteristics as non-cirrhotic portal hypertension, recently classified as porto-sinusoidal vascular disorders (PSVD).

Safety of dry needling in stroke patients: a scoping review.

Introduction: Spasticity is a common problem in stroke patients. Treatments of spasticity often have side effects or are insufficiently effective. Dry needling (DN) has been proposed as a potential additional option to consider in the multimodal treatment of post-stroke spasticity, although questions about its safety remain.

Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the presence of proliferative lesions throughout the body. Management of TSC is challenging because patients have a multifaceted systemic illness with prominent neurological and developmental impact as well as potentially severe kidney, heart and lung phenotypes; however, every organ system can be involved. Adequate care for patients with TSC requires a coordinated effort involving a multidisciplinary team of clinicians and support staff.

OCT-based intra-cochlear imaging and 3D reconstruction: ex vivo validation of a robotic platform.

Purpose: The small size of the cochlea, and its location deeply embedded in thick temporal bone, poses a challenge for intra-cochlear guidance and diagnostics. Current radiological imaging techniques are not able to visualize the cochlear microstructures in detail. Rotational optical coherence tomography (OCT) fibers show great potential for intra-cochlear guidance.

Clinical benefits with 300 IR HDM SLIT tablet in Europeans with house dust mite allergic rhinitis: Post hoc analysis of a large phase 3 trial.

Background: House dust mite (HDM)-induced allergic rhinitis (AR) is a major cause of allergic respiratory disease. The efficacy and safety of the 300 IR HDM sublingual immunotherapy (SLIT) tablet in patients with moderate-to-severe HDM-AR was confirmed in a large, international, phase 3 randomized controlled trials (RCTs). Here, we analyzed the results in the European population.

3D vs. 2D simulated fetoscopy for spina bifida repair: a quantitative motion analysis.

3D imaging technology is becoming more prominent every day. However, more validation is needed to understand the actual benefit of 3D versus conventional 2D vision. This work quantitatively investigates whether experts benefit from 3D vision during minimally invasive fetoscopic spina bifida (fSB) repair.

A first-in-human, open-label Phase 1b and a randomised, double-blind Phase 2a clinical trial in recent-onset type 1 diabetes with AG019 as monotherapy and in combination with teplizumab.

Aims/hypothesis: We hypothesised that islet beta cell antigen presentation in the gut along with a tolerising cytokine would lead to antigen-specific tolerance in type 1 diabetes. We evaluated this in a parallel open-label Phase 1b study using oral AG019, food-grade Lactococcus lactis bacteria genetically modified to express human proinsulin and human IL-10, as a monotherapy and in a parallel, randomised, double-blind Phase 2a study using AG019 in combination with teplizumab.

Methods: Adults (18-42 years) and adolescents (12-17 years) with type 1 diabetes diagnosed within 150 days were enrolled, with documented evidence of at least one autoantibody and a stimulated peak C-peptide level >0.

Risk of healing impairment following tooth extraction in patients administered with antiresorptive and non-antiresorptive polypharmacy.

Introduction: Lack of evidence existed related to the essential role by which anticancer medications alone or in combination with other polypharmacy would be accountable for wound healing impairment post-dental extraction. The following study was conducted to assess the influence of antiresorptive (AR) and non-antiresorptive (non-AR) drugs and other patient-related risk factors on wound healing status following tooth extraction.

Material And Methods: A total of 353 patients (age range: 40-90 years, average age: 67.

VOGT-KOYANAGI-HARADA DISEASE-LIKE UVEITIS IN A PATIENT WITH ADVANCED MELANOMA TREATED BY SEQUENTIAL ADMINISTRATION OF NIVOLUMAB AND DABRAFENIB/TRAMETINIB THERAPY.

Purpose: To describe a case of bilateral Vogt-Koyanagi-Harada (VKH)-like uveitis during treatment with dabrafenib and trametinib and three months after discontinuation of nivolumab for malignant melanoma, and discuss the possible (synergistic) role(s) of mitogen-activated protein kinase (MAPK) inhibitors and immune checkpoint inhibitors in its pathophysiology.

Methods: Retrospective case report with fluorescein angiography and optical coherence tomography.

Results: A 55-year old patient with metastatic melanoma presented with a complaint of gradually worsening blurry vision in the right eye during treatment with dabrafenib and trametinib, three months after discontinuation of nivolumab.

Cluster Analysis Identifies Distinct Patterns of T-Cell and Humoral Immune Responses Evolution Following a Third Dose of SARS-CoV-2 Vaccine in People Living with HIV.

(1) Background: Many vaccines require higher, additional doses or adjuvants to provide adequate protection for people living with HIV (PLWH). Despite their potential risk of severe coronavirus disease 2019, immunological data remain sparse, and a clear consensus for the best booster strategy is lacking. (2) Methods: Using the data obtained from our previous study assessing prospective T-cell and humoral immune responses before and after administration of a third dose of SARS-CoV-2 vaccine, we assessed the correlations between immune parameters reflecting humoral and cellular immune responses.

Risk factors for forced expiratory volume in 1 s decline in European patients with cystic fibrosis: data from the European Cystic Fibrosis Society Patient Registry.

Aim: To examine the trajectory of forced expiratory volume in 1 s (FEV) using data from the European Cystic Fibrosis Society patient registry (ECFPR) collected from 2008 to 2016, the era before highly effective modulator therapy (HEMT). We evaluated risk factors for FEV decline.

Methods: The study population included patients with a confirmed diagnosis of cystic fibrosis recorded in the ECFPR (2008-2016).

ERS International Congress 2022: highlights from the Paediatrics Assembly.

This review has been prepared by the Early Career Members and Chairs of the European Respiratory Society (ERS) Assembly 7: Paediatrics. We here summarise the highlights of the advances in paediatric respiratory research presented at the ERS International Congress 2022. The eight scientific groups of this Assembly cover a wide range of research areas, including respiratory physiology and sleep, asthma and allergy, cystic fibrosis (CF), respiratory infection and immunology, neonatology and intensive care, respiratory epidemiology, bronchology, and lung and airway developmental biology.

Consensus recommendations on mental health issues in Phelan-McDermid syndrome.

Phelan-McDermid syndrome is a rare genetic condition caused by a deletion encompassing the 22q13.3 region or a pathogenic variant of the gene SHANK3. The clinical presentation is variable, but main characteristics include global developmental delay/intellectual disability (ID), marked speech impairment or delay, along with other features like hypotonia and somatic or psychiatric comorbidities.

Determinants of uncontrolled allergic rhinitis in Kinshasa hospitals.

Objective: To identify the determinants of uncontrolled allergic rhinitis (UCAR) in a hospital setting in Kinshasa, Democratic Republic of Congo.

Methods: Hospital-based cross-sectional study of 153 patients with allergic rhinitis (AR). The diagnosis of AR was based on clinical grounds according to the Allergic Rhinitis and its Impact on Asthma (ARIA) criteria.