Cystic fibrosis and primary ciliary dyskinesia: Similarities and differences.

Cystic fibrosis (CF) and Primary ciliary dyskinesia (PCD) are both rare chronic diseases, inherited disorders associated with multiple complications, namely respiratory complications, due to impaired mucociliary clearance that affect severely patients' lives. Although both are classified as rare diseases, PCD has a much lower prevalence than CF, particularly among Caucasians. As a result, CF is well studied, better recognized by clinicians, and with some therapeutic approaches already available.

Feasibility and acceptability of psychosocial care for unsuccessful fertility treatment.

Introduction: Many people undergo fertility treatment to have biological children, but around four in ten patients complete all treatment cycles without having the children they desire. This triggers intense grief from which patients report taking on average 2 years to recover. Fertility guidelines and regulators stress the need to support patients through this process, but there is a scarcity of evaluated interventions to this end and evidence about when and how to offer care is lacking.

Potential Renal Damage Biomarkers in Alport Syndrome-A Review of the Literature.

Alport syndrome (AS) is the second most common cause of inherited chronic kidney disease. This disorder is caused by genetic variants on , and genes. These genes encode the proteins that constitute collagen type IV of the glomerular basement membrane (GBM).

Prospective Case-Control Study of Cardiovascular Abnormalities 6 Months Following Mild COVID-19 in Healthcare Workers.

Objectives: The purpose of this study was to detect cardiovascular changes after mild severe acute respiratory syndrome-coronavirus-2 infection.

Background: Concern exists that mild coronavirus disease 2019 may cause myocardial and vascular disease.

Methods: Participants were recruited from COVIDsortium, a 3-hospital prospective study of 731 health care workers who underwent first-wave weekly symptom, polymerase chain reaction, and serology assessment over 4 months, with seroconversion in 21.

Cardiovascular rehabilitation in patients aged 70-year-old or older: benefits on functional capacity, physical activity and metabolic profile in younger . older patients.

Background: The benefits of exercise-based cardiac rehabilitation (EBCR) programs in post-acute myocardial infarction (AMI) patients have been demonstrated. Our aim was to assess the impact of EBCR in ≥ 70-years-old younger post-AMI patients.

Methods: We retrospectively evaluated patients who underwent a supervised EBCR protocol, twice a week during 6-12 weeks.

Pre-infarction angina is associated with improved prognosis in diabetic patients with ST-elevation myocardial infarction - data from a contemporary cohort.

Background: Pre-infarction angina (PIA) is associated with improved prognosis in patients with ST-elevation myocardial infarction (STEMI). Some studies suggest that diabetes may blunt the effect of ischaemic preconditioning. We sought to study the impact of PIA in diabetic patients with STEMI.

Clinical and Genetic Analysis of Children with Kartagener Syndrome.

Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia causing ineffective mucus clearance and organ laterality defects. In this study, two unrelated Portuguese children with strong PCD suspicion underwent extensive clinical and genetic assessments by whole-exome sequencing (WES), as well as ultrastructural analysis of cilia by transmission electron microscopy (TEM) to identify their genetic etiology. These analyses confirmed the diagnostic of Kartagener syndrome (KS) (PCD with ).

Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction.

Propose: To study CCDC103 expression profiles and understand how pathogenic variants in CCDC103 affect its expression profile at mRNA and protein level.

Methods: To increase the knowledge about the CCDC103, we attempted genotype-phenotype correlations in two patients carrying novel homozygous (missense and frameshift) CCDC103 variants. Whole-exome sequencing, quantitative PCR, Western blot, electron microscopy, immunohistochemistry, immunocytochemistry, and immunogold labelling were performed to characterize CCDC103 expression profiles in reproductive and somatic cells.