Longitudinal Genotype-Phenotype (Vineland Questionnaire) Characterization of 15 ADNP Syndrome Cases Highlights Mutated Protein Length and Structural Characteristics Correlation with Communicative Abilities Accentuated in Males.

Activity-dependent neuroprotective protein (ADNP) is essential for neurodevelopment and de novo mutations in ADNP cause the ADNP syndrome. From brain pathologies point of view, tauopathy has been demonstrated at a young age, implying stunted development coupled with early/accelerated neurodegeneration. Given potential genotype-phenotype differences and age-dependency, we have assessed here a cohort of 15 individuals (1-27-year-old), using 1-3 longitudinal parent (caretaker) interview/s (Vineland 3 questionnaire) over several years.

Pulmonary functions, nasal symptoms, and quality of life in patients with primary ciliary dyskinesia (PCD).

Background: Several factors may influence quality of life (QOL) for patients with primary ciliary dyskinesia (PCD). We aimed to evaluate the association between pulmonary functions, nasal symptoms and QOL in PCD patients.

Methods: A prospective single center study.

The effect of inspiratory muscle training in PCD and CF patients: A pilot study.

Background: Effective work of breathing and bronchial hygiene requires synergy of inspiratory and expiratory muscles. Inspiratory muscle training (IMT) is a part of pulmonary rehabilitation in chronic obstructive pulmonary disease (COPD). There is some evidence of its efficacy in cystic fibrosis (CF) and, recently, in long COVID-19.

The effect of nose clip on exercise-induced bronchoconstriction in adolescents.

Background: Oral breathing is considered to increase hyper-responsiveness of the airways. Data on the need for nose clip (NC) during exercise challenge test (ECT) in children and adolescents is scarce. Ouraim was to evaluate the role of NC during ECT in children and adolescents.

Functional capacity and quality of life in patients with vascular ring.

Background: Vascular rings are congenital anomalies of the aortic arch that compress the trachea and esophagus and may require corrective surgery. Data about the long-term effects of vascular rings are scarce. We aimed to evaluate the long-term cardiorespiratory, exercise capacity, and quality of life of vascular ring patients.

Vineland Adaptive Behavior Scale in a Cohort of Four ADNP Syndrome Patients Implicates Age-Dependent Developmental Delays with Increased Impact of Activities of Daily Living.

Activity-dependent neuroprotective protein (ADNP) is one of the lead genes in autism spectrum disorder/intellectual disability. Heterozygous, de novo ADNP mutations cause the ADNP syndrome. Here, to evaluate natural history of the syndrome, mothers of two ADNP syndrome boys aged 6 and a half and two adults aged 27 years (man and woman) were subjected to Vineland III questionnaire assessing adaptive behavior.

Immunity waning after COVID vaccine booster infection-better than expected.

Background: Rapid decline in antibody-titres after BNT162b2 mRNA COVID-19 vaccine was reported; thus, a booster dose, and recently a second booster were approved. The study aims to discuss immunogenicity throughout the pandemic, especially after booster dose.

Methods: A prospective study conducted in EMMS-Nazareth hospital, Israel.

The effect of probiotic administration on metabolomics and glucose metabolism in CF patients.

Background And Objectives: Cystic fibrosis (CF)-related diabetes (CFRD) affects 50% of CF adults. Gut microbial imbalance (dysbiosis) aggravates their inflammatory response and contributes to insulin resistance (IR). We hypothesized that probiotics may improve glucose tolerance by correcting dysbiosis.

Effect of ArtemiC in patients with COVID-19: A Phase II prospective study.

Despite intensive efforts, there is no effective remedy for COVID-19. Moreover, vaccination efficacy declines over time and may be compromised against new SARS-CoV-2 lineages. Therefore, there remains an unmet need for simple, accessible, low-cost and effective pharmacological anti-SARS-CoV-2 agents.

COVID-19 vaccine - Long term immune decline and breakthrough infections.

Background: Since the introduction of BNT162b2 mRNA COVID-19 vaccine by Pfizer in late 2020, efficacy and immunogenicity waning of COVID-19 vaccines was reported, and decision making regarding a booster remains a top priority worldwide, a decision that should be made based on breakthrough infection rate and antibody titer decline overtime.

Methods: We conducted a 5-month longitudinal prospective study involving vaccinated healthcare personnel, who were tested monthly for antibody titer, and sampled biweekly and on clinical indication for SARS-COV-2 polymerase chain reaction (PCR), to determine antibody decline and breakthrough infection.

Results: 100 participants were recruited to the study.

Insular cortex neurons encode and retrieve specific immune responses.

Increasing evidence indicates that the brain regulates peripheral immunity, yet whether and how the brain represents the state of the immune system remains unclear. Here, we show that the brain's insular cortex (InsCtx) stores immune-related information. Using activity-dependent cell labeling in mice (Fos), we captured neuronal ensembles in the InsCtx that were active under two different inflammatory conditions (dextran sulfate sodium [DSS]-induced colitis and zymosan-induced peritonitis).

Factors associated with complicated pneumonia in children.

Introduction: Community acquired pneumonia (CAP) is a leading cause of morbidity in children, despite advances in health care and anti-pneumococcal vaccine. Complicated pneumonia accounts for a significant burden with prolonged hospitalization. Finding risk factors for complicated pneumonia may help in tailoring management.

Optogenetic activation of local colonic sympathetic innervations attenuates colitis by limiting immune cell extravasation.

The sympathetic nervous system is composed of an endocrine arm, regulating blood adrenaline and noradrenaline, and a local arm, a network of fibers innervating immune organs. Here, we investigated the impact of the local arm of the SNS in an inflammatory response in the colon. Intra-rectal insertion of an optogenetic probe in mice engineered to express channelrhodopsin-2 in tyrosine hydroxylase cells activated colonic sympathetic fibers.

Understanding the interplay between factors that influence bone mineral density in CF.

Background And Objectives: Multiple factors affect bone mineral density (BMD) in cystic fibrosis (CF). Our aim was to perform comprehensive analyses of parameters potentially contributing to BMD.

Methods: A prospective single-center study assessing BMD, and correlations with multiple parameters including pancreatic status, lung functions, 6-minute walk test (6MWT), clinical score (modified Shwachman-Kulczycki [SK] score), vitamin D, nutritional intake, hand grip strength (HGS), habitual physical activity (smart watches), and quality of life (SF-36 questionnaire).

Factors predicting length of stay in bronchiolitis.

Introduction: Despite advances in medical knowledge, the treatment of viral bronchiolitis is mainly supportive. Antiviral therapies are being investigated in clinical trials. Identifying population-attributable risk factors for RSV hospitalization may help prioritizing targeted treatment.

Short-term sleep deprivation in mice induces B cell migration to the brain compartment.

Increasing evidence highlight the involvement of immune cells in brain activity and its dysfunction. The brain's immune compartment is a dynamic ensemble of cells that can fluctuate even in naive animals. However, the dynamics and factors that can affect the composition of immune cells in the naive brain are largely unknown.

The Effect of a 30-Min Water-Pipe Smoking Session on Cognitive Measures and Cardio-Pulmonary Parameters.

Introduction: One session of water-pipe tobacco smoking (WPS) can increase carboxyhemoglobin (COHb) to levels comparable to those reported in carbon monoxide poisoning, which may cause memory impairment and confusion.

Methods: A prospective study evaluating healthy volunteers pre- and post-30 min of WPS session. Primary outcome parameters were executive cognitive measures [digit span test and Paced Auditory Serial Addition Test (PASAT)].

Exercise capacity in patients with cystic fibrosis vs. non-cystic fibrosis bronchiectasis.

Background: Bronchiectasis is associated with morbidity, low exercise capacity and poor quality of life. There is a paucity of data on exercise capacity using cardiopulmonary exercise test (CPET) in non-cystic fibrosis (CF) bronchiectasis. Our aim was to compare exercise capacity using CPET in CF and non-CF bronchiectasis patients.

Long term follow-up of Palivizumab administration in children born at 29-32 weeks of gestation.

Background: Severe respiratory syncytial virus (RSV) bronchiolitis requiring hospitalization induces long term immunological and respiratory abnormalities. The long-term immunomodulation effect of Palivizumab (RSV monoclonal antibody) prophylaxis and its impact on the development of asthma remain controversial. Our aim was to evaluate airway hyper-reactivity, systemic inflammatory markers, allergic parameters and respiratory morbidity, 5-7 years following Palivizumab administration to children born at 29-32 weeks of gestation (WGA).

Six-minute walk, lung clearance index, and QOL in bronchiolitis obliterans and cystic fibrosis.

Introduction: The 6-min walk test (6MWT) predicts outcome in pulmonary hypertension. Recently, its use was reported in both cystic fibrosis (CF) and bronchiolitis obliterans (BO). While the 6MWT is a simple, non-invasive and inexpensive tool, lung clearance index (LCI) measurement requires expensive equipment and expertise.

Factors Associated with Recurrence of Tracheoesophageal Fistula.

Background: Recurrence of tracheoesophageal fistula (TEF) is reported in 8-20% patients. Factors that may influence recurrence of fistula beyond the postoperative period are not clear.

Objectives: To evaluate possible factors associated with recurrence of TEF beyond the immediate postoperative period.

Intermittent inhaled tobramycin and systemic cytokines response in CF patients with Pseudomonas aeruginosa.

Introduction: CF pulmonary guidelines recommend alternate therapy (one month on, one month off) with inhaled tobramycin for chronic Pseudomonas aeruginosa colonization in cystic fibrosis (CF). Tobramycin-inhaled powder (TIP™) is increasingly replacing time-consuming nebulizer therapy. It is unclear whether laboratory parameters change during the month off period compared with the month on therapy.

Bronchoscopy and Bronchoalveolar Lavage in the Diagnosis and Management of Pulmonary Infections in Immunocompromised Children.

Background: Immunocompromised children are at high risk of rapid deterioration and of developing life-threatening pulmonary infections. Etiologies in this setting are diverse, including those that are infectious and noninfectious, and many etiologies may coexist. Accurate diagnosis is required for the rational use of medications.