Relevance of Pressure Recovery in a Young Patient With Aortic Stenosis and Small-Caliber Aorta.

The case concerns a 20-year-old patient with Canadian Cardiovascular Society class II angina who was initially referred for aortic valve replacement because of a suspected high-grade aortic valve stenosis with increased transvalvular gradients (max/mean: 70/40 mm Hg) measured by Doppler echocardiography. Examinations using transesophageal echocardiography and computed tomography showed a sufficiently opening bicuspid aortic valve, excluded supra- and subvalvular stenoses, and measured a narrow aorta (diameter: 2 cm). The explanation for the highly increased gradients across the aortic valve was the pressure recovery (PR) phenomenon, which cannot be detected by Doppler gradients.

Exploring the association between psoriasis and subclinical atherosclerosis defined by carotid intima-media thickness (CIMT) in patients with psoriasis vulgaris: a systematic review and meta-analysis.

Background: Psoriasis is a chronic inflammatory condition that increases the risk of vascular issues, ranging from mild artery damage to severe events such as heart attacks and strokes. This systematic review and meta-analysis aimed to evaluate the relationship between psoriasis and carotid intima-media thickness (CIMT), a marker of subclinical atherosclerosis.

Methods: A comprehensive search of Embase, PubMed/Medline, Scopus, and CINAHL via EBSCO was conducted up until June 2023 using the terms "Atherosclerosis AND Psoriasis.

Pathogenic variants are associated with defects in primary and motile cilia.

Pathogenic variants in are associated with the ciliopathy Joubert syndrome (JS). We report individuals with variants affected by primary and motile cilia defects leading to JS and chronic destructive airway disease. DNA variants were detected in three families by sequencing.

Impact of impaired renal function on kinetics of high-sensitive cardiac troponin following cardiac surgery.

Background: Impaired renal function can increase cardiac troponin levels due to reduced elimination, potentially affecting its diagnostic utility. Limited data exist on high-sensitivity cardiac troponin I (hs-cTnI) kinetics after cardiac surgery relative to renal function. This study evaluates how impaired renal function influences hs-cTnI kinetics following cardiac surgery, distinguishing between patients with and without postoperative myocardial infarction (PMI).

Predictive value of CT-based and AI-reconstructed 3D-TAPSE in patients undergoing transcatheter tricuspid valve repair.

Background: The tricuspid annular plane systolic excursion (TAPSE) assessed by echocardiography has failed in predicting outcomes in patients with severe tricuspid regurgitation (TR) undergoing transcatheter tricuspid valve intervention (TTVI). Considering the complex shape of the tricuspid annulus and right ventricle, as well as the difficult echocardiographic image acquisition of the right heart, cardiac computed tomography (CT) might be superior for the analysis of the annular excursion. Thus, this study aimed to analyze whether CT-captured TAPSE provides additional value in predicting outcomes after TTVI.

Simplified Outcome Prediction in Patients Undergoing Transcatheter Tricuspid Valve Intervention by Survival Tree-Based Modelling.

Background: Patients with severe tricuspid regurgitation (TR) typically present with heterogeneity in the extent of cardiac dysfunction and extra-cardiac comorbidities, which play a decisive role for survival after transcatheter tricuspid valve intervention (TTVI).

Objectives: This aim of this study was to create a survival tree-based model to determine the cardiac and extra-cardiac features associated with 2-year survival after TTVI.

Methods: The study included 918 patients (derivation set, n = 631; validation set, n = 287) undergoing TTVI for severe TR.

Cyclin O controls entry into the cell-cycle variant required for multiciliated cell differentiation.

Multiciliated cells (MCCs) ensure fluid circulation in various organs. Their differentiation is marked by the amplification of cilia-nucleating centrioles, driven by a genuine cell-cycle variant, which is characterized by wave-like expression of canonical and non-canonical cyclins such as Cyclin O (CCNO). Patients with CCNO mutations exhibit a subtype of primary ciliary dyskinesia called reduced generation of motile cilia (RGMC).

Clinical relevance of midkine as a biomarker predicting atherosclerotic risk factors in individuals with type-2 diabetes mellitus: a cross-sectional study.

Objective: Midkine (MK) is a member of a small protein family that includes pleiotrophin. MK levels are elevated in obese patients and have a pro-arthrogenic effect through various pathophysiological processes including vascular inflammation and atherogenesis. This study aimed to investigate the association between serum MK levels and several atherosclerotic risk factors in patients with type 2 diabetes mellitus (T2DM).

A new stepwise approach to minimize phrenic nerve injury during cryoballoon pulmonary vein isolation.

Background: A phrenic nerve injury (PNI) during cryoballoon (CB) pulmonary vein isolation (PVI) continues to represent a limitation of this technique. The objective of this study was to develop a novel technique with the aim of reducing the incidence of PNI.

Methods: We performed a retrospective analysis of data from two hospitals in patients with symptomatic, drug-resistant atrial fibrillation (AF) over 7 years to evaluate the incidence and clinical characteristics of PNI during cryoballoon PVI.

Evaluating Autism Risk Factors and Their Impact on Children in Thi-Qar, Iraq.

Background Autism is a neurodevelopmental disorder marked by difficulties in social communication, language, restricted interests, and repetitive behaviors. Aim This study aims to identify potential risk factors for autism among children and assess their effects on early developmental skills. Methods A case-control study was conducted from September 2022 to September 2023, involving 298 children with autism (265 boys, 33 girls) aged four to 12 from the Thi-Qar Autistic Children Center and private clinics in Iraq.

Long-Term Lung Function and Infection in Genotyped Primary Ciliary Dyskinesia.

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by progressive lung disease. is a major pathogen in this disease and is known to impact lung function. Previous genotype-phenotype studies have been limited by cross-sectional designs, isolated adult or pediatric populations, small numbers, or short follow-up durations.

Pathogenic variants in , , and cause primary ciliary dyskinesia with a defective C1d projection of the central apparatus.

Background: Primary ciliary dyskinesia is a rare genetic disorder caused by insufficient mucociliary clearance leading to chronic airway infections. The diagnostic guideline of the European Respiratory Society primarily recommends an evaluation of the clinical history ( by the PICADAR prediction tool), nasal nitric oxide production rate measurements, high-speed videomicroscopy analysis of ciliary beating and an assessment of ciliary axonemes transmission electron microscopy. Genetic testing can be implemented as a last step.

Exploring the Impact of Family History, Demographics and Ecological Factors on Urolithiasis Prevalence: Insights from a Nationwide Study.

Objective:  This study aimed to evaluate the potential risk factors of lifetime urolithiasis occurrence on a nationwide scale in Iran.

Methods:  All data regarding urinary stone events were extracted from the cross-sectional Iran National Stone Survey (INSS) study, and the possible determinants of urolithiasis incidence were evaluated.

Results:  Our multivariable logistic regression suggested that while older age at presentation, male sex, and a positive family history of urolithiasis in either of the patient's parents or siblings were all significantly associated with an increased odds of lifetime urolithiasis occurrence (all P < .

Immunofluorescence analyses of respiratory epithelial cells aid the diagnosis of nephronophthisis.

Background: Nephronophthisis (NPH) comprises a heterogeneous group of inherited renal ciliopathies clinically characterized by progressive kidney failure. So far, definite diagnosis is based on molecular testing only. Here, we studied the feasibility of NPHP1 and NPHP4 immunostaining of nasal epithelial cells to secure and accelerate the diagnosis of NPH.

Primary Ciliary Dyskinesia Associated Disease-Causing Variants in and Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7.

Disease-causing bi-allelic DNA variants in and are frequent causes of the hereditary disorder of primary ciliary dyskinesia (PCD). The encoded proteins form a molecular ruler complex, crucial for maintaining the 96 nm repeat units along the ciliary axonemes. Defects of those proteins cause a stiff, rapid, and flickery ciliary beating pattern, recurrent respiratory infections, axonemal disorganization, and abnormal assembly of GAS8, CCDC39, and DNALI1.

Reproductive Outcomes of Infertile Males With Novel Genetic Defects.

Various chromosomal structural aberrations and genetic mutations have been discovered in infertile couples. Some have no obvious loss of genetic material; they are usually phenotypically normal people with reproductive issues. Males with these illnesses may have infertility and abnormal sperm analysis.

Novel pathogenic variants of associated with clinical and genetic spectra of primary ciliary dyskinesia in an Arab population.

Primary ciliary dyskinesia (PCD) is caused by the dysfunction of motile cilia resulting in insufficient mucociliary clearance of the lungs. This study aimed to map novel PCD variants and determine their pathogenicity in PCD patients in Kuwait. Herein, we present five PCD individuals belonging to a cohort of 105 PCD individuals recruited from different hospitals in Kuwait.

A range of 30-62% of functioning multiciliated airway cells is sufficient to maintain ciliary airway clearance.

Background: Primary ciliary dyskinesia is a genetic disorder caused by aberrant motile cilia function that results in defective ciliary airway clearance and subsequently leads to recurrent airway infections and bronchiectasis. We aimed to determine: how many functional multiciliated airway cells are sufficient to maintain ciliary airway clearance?

Methods: To answer this question we exploited the molecular defects of the X-linked recessive primary ciliary dyskinesia variant caused by pathogenic variants in (), characterised by immotile cilia in affected males. We carefully analysed the clinical phenotype and molecular defect (using immunofluorescence and transmission electron microscopy) and performed studies (particle tracking in air-liquid interface cultures) and studies (radiolabelled tracer studies) to assess ciliary clearance of respiratory cells from female individuals with heterozygous and male individuals with hemizygous pathogenic variants.

Biallelic Variants in Are Associated with Laterality Defects and Respiratory Involvement.

Defects in motile cilia, termed motile ciliopathies, result in clinical manifestations affecting the respiratory and reproductive system, as well as laterality defects and hydrocephalus. We previously defined biallelic variants causing and male infertility, mirroring the findings in mice. Here, we present clinical and genomic findings in five newly identified individuals from four unrelated families affected by -related disorder.

Artificial intelligence-analyzed computed tomography in patients undergoing transcatheter tricuspid valve repair.

Background: Baseline right ventricular (RV) function derived from 3-dimensional analyses has been demonstrated to be predictive in patients undergoing transcatheter tricuspid valve repair (TTVR). The complex nature of these cumbersome analyses makes patient selection based on established imaging methods challenging. Artificial intelligence (AI)-driven computed tomography (CT) segmentation of the RV might serve as a fast and predictive tool for evaluating patients prior to TTVR.