Lung function from school age to adulthood in primary ciliary dyskinesia.

Primary ciliary dyskinesia (PCD) presents with symptoms early in life and the disease course may be progressive, but longitudinal data on lung function are scarce. This multinational cohort study describes lung function trajectories in children, adolescents and young adults with PCD. We analysed data from 486 patients with repeated lung function measurements obtained between the age of 6 and 24 years from the International PCD Cohort and calculated z-scores for forced expiratory volume in 1 s (FEV), forced vital capacity (FVC) and FEV/FVC ratio using the Global Lung Function Initiative 2012 references.

Cardiovascular, Metabolic and Inflammatory Changes after Ovariectomy and Estradiol Substitution in Hereditary Hypertriglyceridemic Rats.

Background: If menopause is really independent risk factor for cardiovascular disease is still under debate. We studied if ovariectomy in the model of insulin resistance causes cardiovascular changes, to what extent are these changes reversible by estradiol substitution and if they are accompanied by changes in other organs and tissues.

Methods: Hereditary hypertriglyceridemic female rats were divided into three groups: ovariectomized at 8th week ( = 6), ovariectomized with 17-β estradiol substitution ( = 6), and the sham group ( = 5).

The effect of obesity, hypertension, diabetes mellitus, alcohol, and sleep apnea on the risk of atrial fibrillation.

Atrial fibrillation (AF) is the most common sustained cardiac arrhythmia associated with a two-fold increase in mortality caused by a higher risk of stroke and heart failure. Currently, AF is present in ~ 2 % of the general population, and its incidence and prevalence are increasing. Obesity, hypertension, diabetes mellitus, obstructive sleep apnea, and alcohol consumption increase the risk of AF.

The dorsal pancreatic artery: A meta-analysis with clinical correlations.

Background/objectives: The dorsal pancreatic artery is the main artery of the body and tail of the pancreas. Its origin and branching is highly variable. The aim of this study was to perform a meta-analysis to generate pooled prevalence data on the presence and origin of the dorsal pancreatic artery.

Toxoplasmosis impact on prematurity and low birth weight.

Background: Toxoplasma gondii, one of the most common parasites, causes toxoplasmosis, one of the most frequent zoonotic diseases worldwide. T. gondii infects about one-third of the world's population.

Pencil Beam Scanning (PBS) Intensity-Modulated Proton Therapy (IMPT) Chemoradiotherapy for Anal Canal Cancer-Single Institution Experience.

A favourable dose distribution has been described for proton beam therapy (PBT) of anal cancer in dosimetric studies. The relationship between dosimetric parameters in bone marrow and haematologic toxicity, treatment interruptions, and treatment efficacy has also been documented. There are only few references on clinical results of PBT for anal cancer.

Pre- and postzygotic mechanisms preventing hybridization in co-occurring species of the complex.

In the species-rich genus , few natural hybrids are known, even though closely related species often occur sympatrically. In this study, we aim to bridge the gap between micro- and macro-evolution to disentangle pre- and postzygotic mechanisms that may prevent hybridization in the complex from Central Africa. We analyzed habitat types, species distribution, pollination syndromes, pollinator dependency, genome sizes, and chromosome numbers of seven out of the ten species of the complex as well as of one natural hybrid and reconstructed the ancestral chromosome numbers of the complex.

Socioeconomic and cognitive roots of trait anxiety in young adults.

In 54 participants (41% women) from the Czech arm of the European Longitudinal Study of Pregnancy and Childhood, a national birth cohort with prospectively collected data from their birth until young adulthood, we aimed to study the association between early-life socioeconomic deprivation (ELSD), cognitive ability in adolescence, trait anxiety and resting state functional connectivity of the lateral prefrontal cortex (LPFC) in young adulthood. We found that ELSD was associated with lower cognitive ability in adolescence (at age 13) as well as higher trait anxiety in young adulthood (at age 23/24). Higher cognitive ability in adolescence predicted lower trait anxiety in young adulthood.

The first wave of the COVID-19 pandemic in primary schools in the Czech Republic: Parental perspectives.

The article presents results of a survey among parents of primary-school pupils, in which they commented on education during school closures due to the COVID-19 disease pandemic in the spring of 2020. The questionnaire mapped family arrangements, parents' competencies, parenting practices concerning learning, and communication with the school. It was administered to more than 2,500 respondents at the end of the period of school closures (May-June 2020).

Feasibility of Imaging-Guided Adrenalectomy in Young Patients With Primary Aldosteronism.

Many of the patients with primary aldosteronism (PA) are denied curative adrenalectomy because of limited availability or failure of adrenal vein sampling. It has been suggested that adrenal vein sampling can be omitted in young patients with a unilateral adrenal nodule, who show a florid biochemical PA phenotype. As this suggestion was based on a very low quality of evidence, we tested the applicability and accuracy of imaging, performed by computed tomography and/or magnetic resonance, for identification of unilateral PA, as determined by biochemical and/or clinical cure after unilateral adrenalectomy.

Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant.

Almost half of all individuals affected by intellectual disability (ID) remain undiagnosed. In the Solve-RD project, exome sequencing (ES) datasets from unresolved individuals with (syndromic) ID (n = 1,472 probands) are systematically reanalyzed, starting from raw sequencing files, followed by genome-wide variant calling and new data interpretation. This strategy led to the identification of a disease-causing de novo missense variant in TUBB3 in a girl with severe developmental delay, secondary microcephaly, brain imaging abnormalities, high hypermetropia, strabismus and short stature.

Practical Considerations for the Clinical Application of Bone Turnover Markers in Osteoporosis.

Bone turnover markers (BTMs) are released during the bone remodelling cycle and are measurable in blood or urine, reflecting bone remodelling rate. They have been useful in elucidating the pharmacodynamics and effectiveness of osteoporosis medication in clinical trials and are increasingly used in routine clinical management of osteoporosis, especially for monitoring therapy, in addition to their use in other metabolic bone disease such as Paget's disease of bone and osteomalacia. Serum β isomerised C-terminal telopeptide of type I collagen and pro-collagen I N-terminal propeptide have been designated as reference BTMs for use in osteoporosis.

Isolated nocturnal hypertension in pediatric kidney transplant recipients.

Background: Isolated nocturnal hypertension (INH) is defined as nighttime hypertension in the setting of normal daytime blood pressure (BP), diagnosed by ambulatory BP monitoring (ABPM).

Methods And Results: Hypertension affects 60%-80% of pediatric kidney transplant recipients, and INH is the most common type of ambulatory hypertension. INH is associated with an increased prevalence of hypertension-mediated target organ damage such as left ventricular hypertrophy in adults and in pediatric kidney transplant recipients.

Temperature-induced changes in egg white antimicrobial concentrations during pre-incubation do not influence bacterial trans-shell penetration but do affect hatchling phenotype in Mallards.

Microbiome formation and assemblage are essential processes influencing proper embryonal and early-life development in neonates. In birds, transmission of microbes from the outer environment into the egg's interior has been found to shape embryo viability and hatchling phenotype. However, microbial transmission may be affected by egg-white antimicrobial proteins (AMPs), whose concentration and antimicrobial action are temperature-modulated.

Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development.

Pathogenic sequence variant in the GNAI1 gene were recently introduced as a cause of novel syndrome with a manifestation of variable developmental delay and autistic features. In our study, we report a case of monozygotic twins with severe intellectual disability and motor delay and developmental dysphasia. Both probands and their parents were examined using multi-step molecular diagnostic algorithm including whole-exome sequencing (WES), resulting in the identification of a novel, de novo pathogenic sequence variant in the GNAI1 gene, NM_002069.

Freshwater and brackish water fishes of Sakhalin Island (Russia) in inland and coastal waters: an annotated checklist with taxonomic comments.

Based on a critical analysis of scientific publications for the last 200 years and on the collected specimens, a complete annotated list of both typical freshwater ichthyofauna of Sakhalin Island, with the inclusion of marine species that can be found in brackish coastal waters, is reported for the first time. The annotated list includes 226 species classified in three classes, 26 orders, 68 families, 29 subfamilies, and 148 genera. For 160 species, information is provided on collection samples deposited in various museums around the world, 36 of which are type specimens.

Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the Phenotype.

Alport syndrome with intellectual disability (ATS-ID, AMME complex; OMIM #300194) is an X-linked contiguous gene deletion syndrome associated with an Xq22.3 locus mainly characterized by hematuria, renal failure, hearing loss/deafness, neurodevelopmental disorder (NDD), midface retrusion, and elliptocytosis. It is thought that ATS-ID is caused by the loss of function of () and FACL4 (ACSL4) genes through the interstitial (micro)deletion of chromosomal band Xq22.

Tryptophan: A Unique Role in the Critically Ill.

Tryptophan is an essential amino acid whose metabolites play key roles in diverse physiological processes. Due to low reserves in the body, especially under various catabolic conditions, tryptophan deficiency manifests itself rapidly, and both the serotonin and kynurenine pathways of metabolism are clinically significant in critically ill patients. In this review, we highlight these pathways as sources of serotonin and melatonin, which then regulate neurotransmission, influence circadian rhythm, cognitive functions, and the development of delirium.

4-Year Outcomes After Left Atrial Appendage Closure Versus Nonwarfarin Oral Anticoagulation for Atrial Fibrillation.

Background: The PRAGUE-17 (Left Atrial Appendage Closure vs Novel Anticoagulation Agents in Atrial Fibrillation) trial demonstrated that left atrial appendage closure (LAAC) was noninferior to nonwarfarin direct oral anticoagulants (DOACs) for preventing major neurological, cardiovascular, or bleeding events in patients with atrial fibrillation (AF) who were at high risk.

Objectives: This study sought to assess the prespecified long-term (4-year) outcomes in PRAGUE-17.

Methods: PRAGUE-17 was a randomized noninferiority trial comparing percutaneous LAAC (Watchman or Amulet) with DOACs (95% apixaban) in patients with nonvalvular AF and with a history of cardioembolism, clinically-relevant bleeding, or both CHADS-VASc ≥3 and HASBLED ≥2.

Autonomous Systems and Artificial Intelligence - Hype or Prerequisite for P5 Medicine?

For meeting the challenge of aging, multi-diseased societies, cost containment, workforce development and consumerism by improved care quality and patient safety as well as more effective and efficient care processes, health and social care systems around the globe undergo an organizational, methodological and technological transformation towards personalized, preventive, predictive, participative precision medicine (P5 medicine). This paper addresses chances, challenges and risks of specific disruptive methodologies and technologies for the transformation of health and social care systems, especially focusing on the deployment of intelligent and autonomous systems.