Minnesota Multiphasic Personality Inventory 2 – Recenze metody

MMPI-2 je metoda, která má přinést komplexní pohled na osobnost člověka. Je primárně určená pro využívání v diagnostice a klinické praxi. V současnosti se však hojně využívá i v jiných oblastech, například v psychologii organizace, při výběrových řízeních atd. V České republice je metoda oblíbeným a hojně využívaným nástrojem i přes mnoho chybějících relevantních informací a otazníků, které se objevují při bližším zkoumáním metody. Nutno však podotknout, že minimálně v zahraničí dochází k tvorbě restandardizačních studí a dalšímu následnému vylepšování metody. Jako příklad by se dalo uvést, že v reakci na častou připomínku ohledně vysoké heterogenity škál a překrývání konceptů, které škály měří, došlo k restrukturaci klinických škál Současný stav inventáře by bylo vhodné podrobit bližšímu výzkumnému šetření se zaměřením se na popis reliability škál a validity celé metody. Z výše uvedených důvodů by se měla zvážit revize inventáře.MMPI-2 is the psychometric test for measuring adult psychopathology. This method is supposed be used in psychological diagnostics and clinical practise, however, it is frequently used in variety of contexts including sport psychology, organisational psychology and recruitment. In Czech Republic, MMPI-2 is one of the most frequently used clinical assessment tests despite the lack of information about validity and reliability provided for Czech language translation. Nevertheless, there are number of relevant methodological studies available from abroad. For further use, the Czech language translation of MMPI-2 should be revised. More specifically, detailed research focused on the reliability of scales and the validity of the method in various contexts should be conducted

Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population

Fanconi anemia (FA), an inherited bone marrow failure (BMF) syndrome, caused by mutations in DNA repair genes, is characterized by congenital anomalies, aplastic anemia, high risk of malignancies and extreme sensitivity to alkylating agents. We aimed to study the clinical presentation, molecular diagnosis and genotype-phenotype correlation among patients with FA from the Israeli inherited BMF registry. Overall, 111 patients of Arab (57%) and Jewish (43%) descent were followed for a median of 15 years (range: 0.1-49); 63% were offspring of consanguineous parents. One-hundred patients (90%) had at least one congenital anomaly; over 80% of the patients developed bone marrow failure; 53% underwent hematopoietic stem-cell transplantation; 33% of the patients developed cancer; no significant association was found between hematopoietic stem-cell transplant and solid tumor development. Nearly 95% of the patients tested had confirmed mutations in the Fanconi genes FANCA (67%), FANCC (13%), FANCG (14%), FANCJ (3%) and FANCD1 (2%), including twenty novel mutations. Patients with FANCA mutations developed cancer at a significantly older age compared to patients with mutations in other Fanconi genes (mean 18.5 and 5.2 years, respectively, P=0.001); however, the overall survival did not depend on the causative gene. We hereby describe a large national cohort of patients with FA, the vast majority genetically diagnosed. Our results suggest an older age for cancer development in patients with FANCA mutations and no increased incidence of solid tumors following hematopoietic stem-cell transplant. Further studies are needed to guide individual treatment and follow-up programs

Characterization of greater middle eastern genetic variation for enhanced disease gene discovery

The Greater Middle East (GME) has been a central hub of human migration and population admixture. The tradition of consanguinity, variably practiced in the Persian Gulf region, North Africa, and Central Asia1-3, has resulted in an elevated burden of recessive disease4. Here we generated a whole-exome GME variome from 1,111 unrelated subjects. We detected substantial diversity and admixture in continental and subregional populations, corresponding to several ancient founder populations with little evidence of bottlenecks. Measured consanguinity rates were an order of magnitude above those in other sampled populations, and the GME population exhibited an increased burden of runs of homozygosity (ROHs) but showed no evidence for reduced burden of deleterious variation due to classically theorized ‘genetic purging’. Applying this database to unsolved recessive conditions in the GME population reduced the number of potential disease-causing variants by four- to sevenfold. These results show variegated genetic architecture in GME populations and support future human genetic discoveries in Mendelian and population genetics

METHYLATION OF DNA MAY BE USEFUL AS A COMPUTATIONAL TOOL: EXPERIMENTAL EVIDENCE

Previously we have explained the abstract concept we call ‘aqueous computing’ and illustrated it with concrete wet lab results. Here, we explore the use of methylase enzymes to ‘write ’ on double-stranded DNA molecules at sites where restriction enzymes will cut if, and only if, the sites have not previously been methylated. A site represents the bit zero (False, F) if the site has been methylated and the bit one (True, T) if it has not been methylated. ‘Reading’ is done by attempting a cut at each of the sites. We found 8 commercially available methylases and 8 corresponding restriction enzymes that would not cut after the action of one of the methylases. We were able to confirm that methylation by each of these 8 enzymes individually blocked cleavage only by the restriction enzyme associated with that site and not any other enzyme. We then used these enzymes to approach a 3-variable, 4-clause satisfiability (SAT) problem using either plasmid DNA (pBluescript) or PCR product made from the region containing the restriction enzyme sites on the plasmid. Pairs of methylases were defined to represent each of the states of the operators p,

Acceptance Rates of COVID-19 Vaccine Highlight the Need for Targeted Public Health Interventions

We aimed to examine rates of COVID-19 vaccination to elucidate the need for targeted public health interventions. We retrospectively reviewed the electronic medical files of all adults registered in a central district in Israel from 1 January 2021 to 31 March 2022. The population was characterized by vaccination status against COVID-19 and the number of doses received. Univariate and multivariable analyses were used to identify predictors of low vaccination rates that required targeted interventions. Of the 246,543 subjects included in the study, 207,911 (84.3%) were vaccinated. The minority groups of ultra-Orthodox Jews and Arabs had lower vaccination rates than the non-ultra-Orthodox Jews (68.7%, 80.5% and 87.7%, respectively, p p p p < 0.001) associated with low vaccination rates: minority groups of the ultra-Orthodox sector and Arab population, and underlying conditions of asthma, smoking and diabetes mellitus (odds ratios: 0.484, 0.453, 0.843, 0.901 and 0.929, respectively). Specific targeted public health interventions towards these subpopulations with significantly lower rates of vaccination are suggested