Some aspects of molecular diagnostics in Lynch syndrome

This manuscript is composed of five parts which summarize five publications in succession. Essentially, they are concerned with molecular diagnostics of Lynch syndrome and are based on studies in 238 families. The finding that young age at diagnosis is the key feature in patients with MSH2 and MLH1 mutations (Part 1) has helped to define simple criteria for the preliminary diagnosis of this syndrome. A cheaper method for the detection of mutations has been developed (Part 2) and applied to study the types of mutations and their prevalence in Poland (Part 3) and the Baltic States (Part 4). A specific feature of these mutations, i.e. presence of recurrent mutations in the majority of affected families with mutations, has suggested the feasibility of effective diagnostics with a single test disclosing all of them. An attempt to reveal other causes of familial aggregation of colorectal cancer has ruled out any association with C insertion in the NOD2 gene (Part 5)

Atrial fibrillation in patients with atrial septal aneurysm

Background: To assess the incidence of paroxysmal atrial fibrillation (AF) in patients with atrial septal aneurysm (ASA) and the relationship between ASA morphology and the incidence of AF. Methods: Among 12,941 patients evaluated echocardiographically, 88 (0.68%) were diagnosed with ASA [with 35 (39.8%) males and 53 (60.2%) females; mean age, 54.3 &#177; 14.4 years]. The morphology of the aneurysm and the atria was evaluated by echocardiography, P wave dispersion was evaluated by 12-lead electrocardiography (ECG) and the presence of AF was confirmed by 24-hour ambulatory ECG monitoring. ASA was diagnosed when the base of the aneurysm on echocardiography exceeded 15 mm and its protrusion exceeded 7.5 mm. Results: Paroxysmal AF was documented in 15 (17.0%) patients with ASA. We showed that the presence of AF depended on the area of the aneurysm, with the latter positively correlating with the area of the left atrium. We further found a significant relationship between the presence of atrial arrhythmia and the dispersion of P wave duration (p < 0.005). The remaining characteristics, such as gender and age, embolic events, interatrial shunt and comorbidities showed no correlation with the occurrence of AF. Conclusions: The occurrence of paroxysmal AF in patients with ASA depends on the area of the aneurysm and the increased area of the left atrium. Patients with ASA and paroxysmal AF display a significantly higher dispersion of sinus P wave duration versus patients with ASA but without paroxysmal AF. The presence of ASA structure oscillation, the direction of aneurismal protrusion and the presence of interatrial shunt do not significantly affect the incidence of AF. (Cardiol J 2007; 14: 580-584)

The Cyclic Stocking of Parentals in a Farm Pond to Produce a Population of Male Bluegill x Female Green Sunfish F\u3csub\u3e1\u3c/sub\u3e Hybrids and Male Redear Sunfish x Female Green Sunfish F\u3csub\u3e1\u3c/sub\u3e Hybrids

A population of male bluegill (Lepomis macrochirus) x female green sunfish (Lepomis cyanellus) F1 hybrids was established by parental stocking in a southern Illinois farm pond containing male redear sunfish (Lepomis microlophus) x female green sunfish F1 hybrids and largemouth bass (Micropterus salmoides). In 1967, male redear sunfish and female green sunfish parentals, along with fingerling bass, were stocked into a new farm pond. Nine years later in 1976, male bluegill and female green sunfish were stocked into the same pond. At the time of sampling in the fall of 1978, bluegill x green sunfish F1 hybrids weighed an average of 3 g at annulus I, 24 g at annulus II, and 171 g at annulus III. Growth rates among the three year classes varied widely. The best growth was exhibited by the 1976 year class of bluegill x green sunfish F1 hybrids. Redear x green sunfish F1 hybrids sampled in 1969 weighed an average of 32 g at annulus I, 118 g at annulus II, and 217 g at annulus III. Both F1 hybrid sunfish crosses produced fish that reached the theoretical minimum harvestable size of 110 g at annulus III

Separation of Enantiomers by Inclusion Gas Chromatography: On the Influence of Water in the Molecular Complexation of Methyl 2-Chloropropanoate Enantiomers and the Modified γ-Cyclodextrin Lipodex-E

A profound influence of water has previously been detected in the complexation of the enantiomers of methyl 2-chloropropanoate (MCP) and the chiral selector octakis(3-O-butanoyl-2,6-di-O-pentyl)-γ-cyclodextrin (Lipodex-E) in NMR and sensor experiments. We therefore investigated the retention behavior of MCP enantiomers on Lipodex-E by gas chromatography (GC) under hydrous conditions. Addition of water to the N2 carrier gas modestly reduced the retention factors k of the enantiomers, notably for the second eluted enantiomer (S)-MCP. This resulted in an overall decrease of enantioselectivity -ΔS,R(ΔG) in the presence of water. The effect was fully reversible. Consequently, for a conditioned column in the absence of residual water, the determined thermodynamic data, i.e. ΔS,R(ΔH) = -12.64 ± 0.08 kJ mol-1 and ΔS,R(ΔS) = -28.18 ± 0.23 J K-1 mol-1, refer to a true 1:1 complexation process devoid of hydrophobic hydration. Chirality 28:124-131, 2015

CARE TO CRIMINALIZATION: HOW ADULTS WITH LIVED CROSSOVER KID EXPERIENCE PERCIEVE THEIR EXPERIENCES IN THE CHILD PROTECTION SYSTEM AND THE CRIMINAL JUSTICE SYSTEM

Crossover kids are youth who were/are in the child protection system and cross over into the juvenile/criminal justice system. Children who have been in the child protection system are 52% more likely to end up in the criminal justice system (Baidawi, 2020; Bateman, 2021; Turpel-Lafond, 2009). This creates a concerning trajectory for youth who are in the child protection system, through no fault of their own, because criminal justice involvement can follow them into adulthood. Children are entering a system of care that is criminalizing them and moving them into a system of custody. There has been scholarship using extant data from both child protection files and juvenile justice files to explain how this crossover is happening. What is missing from the literature is perceptions of those with lived crossover kid experience, actual conversations with this population of people. This thesis gives voice to adults with lived crossover experience about their experiences with the child protection system, the criminal justice system, and their recommendations to prevent future crossover kids. To further contextualize the perceptions of adults with lived crossover kid experience, I situate their experiences within a broader media analysis of Twitter posts made by researchers, professionals and agencies who work with crossover kids. This study is examined through a life course theory lens, as there are transitions into each system, turning points that start the transitions, and life trajectories can be affected