Molecular Genetics and its Applications in Forensic Sciences

The way to medico legal identification was open at the end of the twenty‐first century by the “digital fingerprinting” represented by the multifactorial phenotypical trait, determined by both polygenic and environmental factors, followed by group‐specific antigens, or with specificity for blood and tissue, and ending with the DNA molecule in use today. Because of this aspect, the framework of modern forensic medicine includes a new field, that of forensic genetics, that mostly involves working with investigations that have human genotype identification as a goal

An Ethical Dilemma in SARS-Cov-2 Pandemic : Who Gets the Ventilator?

Since the current pandemic is an emergency situation worldwide, there’s a shortage of mechanical ventilators, intensive care unit (ICU) beds, and other medical equipment. Due to new disease and insufficient medical data, it is difficult to ensure access to life-saving treatments for people with various vulnerabilities. From an ethical point of view, the current guidelines and recommendations, as incomplete as they are, suggest the utilitarian principle that the allocation of life-saving treatments is based on assessing patients' chances of survival

Advantages of Salivary DNA in Human Identification

Since two and a half decades, in human identification, the short tandem repeat (STR) markers represent the “gold standard.” Besides them, haploid markers such as X-STR and Y-STR are also used to complement the autosomal markers. In human identification, DNA from body fluids, especially saliva, represents an important tool. The aim of this chapter is to present the importance of analyzing X-STR markers in a relatedness case between a sister and her presumptive brother, a carbonized victim using body fluids for their DNA identification. Our laboratory had to establish the relatedness between a woman and her presumptive brother (PB), who was the victim of a car accident explosion. In this case, as reference sample we used saliva collected on swabs from the woman and blood sample from the deceased victim. For the DNA extraction, DNA IQ Casework (Promega, USA) was used. DNA quantification was done with PowerQuant System kit (Promega, USA). Furthermore, the DNA samples were amplified with Investigator 24plex QS (Qiagen, Germany) for the STR markers and Investigator Argus 12-X QS kit (Qiagen, Germany) for the X-STR markers. The amplified DNA products were separated by capillary electrophoresis on a 3500 Genetic Analyzer. In this case, full genetic profiles were obtained for the woman and her presumptive brother on both STR and X-STR markers. Thus, we could confirm a full sibling relationship between them. Since the introduction of DNA in human identification, it represents a useful tool in establishing sibling relationship from different biological samples

ETHICAL CONSIDERATIONS REGARDING GENETIC DISCRIMINATION IN THE CASE OF HUNTINGTON’S DISEASE

Huntington’s is a genetic neurodegenerative disease with dominant autosomal transmission, and high penetrance. This transmission model represents a high recurrence risk (50%) in case of the descendants of affected individuals. This disease can have its debut during adulthood, 40-50 years old or, in case of its juvenile form, during childhood or adolescence. The disease evolves with dystonia, choric movements, rigidity and dementia. Genetic testing for HD mutation is performed through molecular techniques and is possible at any age, independent of whether the person is symptomatic or asymptomatic. The genetic testing allows the identification of those individuals who are carriers of mutations on certain genes, these mutations being the underlying cause for some genetic diseases. At the present moment there are 3 types of genetic testing: diagnostic, carrier and predictive. The predictive tests identify whether an individual is a carrier for a certain specific genetic mutation and whether the possibility exists for him to develop certain health issues later on. Being aware of the carrier status for a certain genetic mutation for Huntington’s represents an element with major impact on the individual and on their family and can lead to discrimination from the side of the insurance companies, employers as well as others

ETHICAL CONSIDERATIONS REGARDING GENETIC DISCRIMINATION IN THE CASE OF HUNTINGTON’S DISEASE

Huntington’s is a genetic neurodegenerative disease with dominant autosomal transmission, and high penetrance. This transmission model represents a high recurrence risk (50%) in case of the descendants of affected individuals. This disease can have its debut during adulthood, 40-50 years old or, in case of its juvenile form, during childhood or adolescence. The disease evolves with dystonia, choric movements, rigidity and dementia. Genetic testing for HD mutation is performed through molecular techniques and is possible at any age, independent of whether the person is symptomatic or asymptomatic. The genetic testing allows the identification of those individuals who are carriers of mutations on certain genes, these mutations being the underlying cause for some genetic diseases. At the present moment there are 3 types of genetic testing: diagnostic, carrier and predictive. The predictive tests identify whether an individual is a carrier for a certain specific genetic mutation and whether the possibility exists for him to develop certain health issues later on. Being aware of the carrier status for a certain genetic mutation for Huntington’s represents an element with major impact on the individual and on their family and can lead to discrimination from the side of the insurance companies, employers as well as others

Régimen legal de la nacionalidad española y novedades con especial examen de la doble nacionalidad.

El objetivo perseguido con este trabajo es analizar el régimen legal de la nacionalidad española, exponiendo brevemente las formas de adquisición de ésta con especial énfasis en las novedades y, finalmente, en la doble nacionalidad. La nacionalidad es de gran relevancia ya que delimita, de forma similar a una frontera, las personas que van a quedar sometidas a un determinado ordenamiento jurídico, en este caso al ordenamiento español. Se observa como la forma más habitual de acceder a la nacionalidad española es la residencia y que la CE permite excepcionalmente la concertación por parte de España de tratados de doble nacionalidad con los países iberoamericanos y con aquellos con los que España tenga particular vinculación pero también admite la doble nacionalidad no basada en la reciprocidad. Se verá como la doble nacionalidad de derecho no es la única existente y sus posibles ventajas e inconvenientes

Vaccination of immunocompromised persons

Rezumat. Persoanele imunodeprimate, fie primar sau secundar prezintă adesea un risc crescut de infecții pe care le pot manifesta mai sever și mai complicat. Prevenirea infecțiilor este o componentă cheie a managementului acestora și un determinant important al rezultatelor clinice. Vaccinarea rămâne o strategie preventivă cheie și actual există linii directoare clare pentru vaccinarea persoanelor imunodeprimate și a contacților apropiați.Summary. People who are immunosuppressed, either primary or secondary, are often at increased risk of infections that can be more severe and complicated. Prevention of infections is a key component of their management and an important determinant of clinical outcomes. Vaccination remains a key preventive strategy and there are currently clear guidelines for vaccination of immunocompromised individuals and close contacts

Artera radială sau vena safenă în revascularizarea miocardică? Actualități, limite, controverse, perspective

Institutul de Boli Cardiovasculare „Prof. Dr. George I.M. Georgescu”, Universitatea de Medicină și Farmacie „Grigore T. Popa” Iași, Universitatea de Medicină și Farmacie Târgu Mureș, Al XIII-lea Congres al Asociației Chirurgilor „Nicolae Anestiadi” și al III-lea Congres al Societății de Endoscopie, Chirurgie miniminvazivă și Ultrasonografie ”V.M.Guțu” din Republica MoldovaIntroducere: Bypass-ul aorto-coronarian (BAC) reprezintă tehnica de revascularizare de elecție la pacienții cu leziuni coronariene ce interesează trunchiul arterei coronare stângi sau mai mult de 3 artere coronare. Artera mamară internă constituie graftul gold standard, controverse existând în privința alegerii celui de al 2-lea sau al 3-lea graft. Ultima ediție a Ghidului de Revascularizare Miocardică elaborat de Societatea Europeană de Cardiologie în 2018, prezintă drept indicație de clasă IB utilizarea arterei radiale în detrimentul venei safene interne drept graft adițional după artera mamară internă în cazul pacienților cu stenoze coronariene severe. Materiale și metode: Studiul de față prezintă perspectiva Institutului de Boli Cardiovasculare „Prof. Dr. George I.M. Georgescu” din Iași asupra selecției, recoltării, tehnicii operatorii și prognosticului grafturilor de arteră radială și venă safenă internă cu analiza beneficiului clinic obiectiv în funcție de tipul de graft. În cadrul cercetării au fost analizați 1021 pacienți cu BAC realizat în perioada 2000-2018 utilizând cel puțin o arteră radială și care au supraviețuit perioadei postoperatorii. Vârsta medie a pacienților analizați a fost de 61,30±9,22 ani, iar 182 pacienți (17,83%) au fost de sex feminin. Bypass-ul a fost efectuat utilizând exclusiv grafturi arteriale în 698 cazuri, grafturi de venă safenă (BAC mixt) fiind folosite în 323 cazuri. În total au fost efectuate 1236 anastomoze distale utilizând grafturi de arteră radială și 411 folosind grafturi de venă safenă internă. Rezultate: Permeabilitatea grafturilor la peste 10 ani din momentul intervenției inițiale a fost evaluată în 136 cazuri prin angiografie computer tomografică și a fost constatată o permeabilitate mai mare pentru grafturile de arteră radială (77,05%) comparativ cu cele de venă safenă internă (72,97%) în special pentru teritoriul drept. Supraviețuirea pe termen lung a pacienților a fost de asemenea superioară în cazul revascularizării total arteriale utilizând grafturi de arteră mamară internă și arteră radială (72,31%) comparativ cu BAC mixt utilizând și grafturi de venă safenă (64,14%). Concluzii: Spre deosebire de vena safenă internă mai permisivă la fluxul competitiv, artera radială s-a dovedit mai susceptibilă la vasoconstricție și ocluzie în cazul anastomozării la vase fără stenoză critică. In concluzie, graftul de arteră radială este asociat cu un prognostic favorabil atunci când este utilizat drept al 2-lea sau al 3-lea graft asociat cu una sau ambele artere mamare interne în special pentru a revasculariza artere cu stenoze proximale severe, peste 90%. Studii adiționale sunt necesare pentru identificarea configurațiilor de grafturi cu cel mai mare beneficiu din punct de vedere clinic

Genetic DNA Identification from Bone Remains in Kinship Analysis Using Automate Extraction System

The first ever human identification through DNA analysis was done in the year 1987. Since then, this test has been used, not only in the ruling of civil and juridical cases, but also for human identification of missing persons and mass disaster victims. In this chapter we will present the usefulness of genetic DNA testing of skeletonized remains for human identification, by using automate DNA extraction from three different human bone types: tooth, femur and petrous pyramid. For each case, we obtained saliva samples on buccal swabs from relatives. After the bones were washed and cleaned, Bead Balls Mill Mix 20 (Tehtnica Domel, Slovenia), was used to obtain the bone powder. The DNA extraction from bone samples was performed on the automate Maxwell RSC 48 Instrument (Promega, USA), using the Maxwell FSC DNA IQ Casework Kit (Promega, USA). Power Quant System (Promega, USA) was used for DNA quantification of the samples. The DNA samples were amplified on a Pro Flex PCR System (Thermo Fischer, USA), using the Global Filer PCR Amplification Kit (Applied Biosystems, USA). PCR products were run on a 3500 Genetic Analyzer (Thermo Fischer, USA). Data analysis was performed by Gene Mapper 1.4. Considering that these cases involved DNA extraction from teeth, bones and old human remains, automate system was felt to be the best option to reduce handling errors and increase the possibilities of obtaining good quality DNA

Intestinal Microbiomics in Physiological and Pathological Conditions

Microbiomics represents a new science studying the microbiome, consisting of all the microorganisms of a given community. This new science collects data about all the members of the microbial community and quantifies the molecules responsible for the structure, function, and dynamics of the microbiome. The human microbiome plays a very important role in the healthy state and in a variety of disease states. The human microbiome knowledge has evolved during the last decades and nowadays one can consider that, in particular, the gut microbiota is seen as a significant organ holding 150 times more genes compared to the human genome. This chapter will focus on discussing the normal and modified phyla and species of the gut microbiome in a variety of conditions, providing a better understanding of host-microbiome interactions. We will highlight some new associations between intestinal dysbiosis and acute or chronic inflammatory and metabolic diseases