journal
https://read.qxmd.com/read/38868976/the-applied-genomics-development-strategy-by-the-croatian-academy-of-sciences-and-arts-paves-the-way-for-the-future-development-of-applied-genomics-in-croatia
#1
JOURNAL ARTICLE
Filip Sedlić, Jadranka Sertić, Alemka Markotić, Dragan Primorac, Anita Slavica, Lada Zibar, Kristian Vlahoviček, Vesna Kušec, Ivo Barić, Vladimir Paar, Fran Borovečki, Ljiljana Žmak, Ivan-Christian Kurolt, Nina Canki-Klain, Sunčana Roksandić, Iva Rinčić, Hrvoje Jurić, Vedrana Škaro, Damir Marjanović, Petar Projić, Damir Primorac, Antonio Starčević, Dušica Vujaklija, Mile Šikić, Krešimir Križanović, Stjepan Gamulin
No abstract text is available yet for this article.
June 13, 2024: Croatian Medical Journal
https://read.qxmd.com/read/38868975/the-role-of-glycans-in-personalization-of-preventive-health-care
#2
JOURNAL ARTICLE
Gordan Lauc, Dragan Primorac
No abstract text is available yet for this article.
June 13, 2024: Croatian Medical Journal
https://read.qxmd.com/read/38868974/stone-induced-urethral-fistula-treatment-with-microfragmented-adipose-tissue-containing-mesenchymal-stem-cells-a-case-report-from-veterinary-medicine-with-potential-application-in-humans
#3
JOURNAL ARTICLE
Tugomir Karadjole, Ivan Butković, Ana Dimova, Vilim Molnar, Juraj Šavorić, Goran Bačić, Dragan Primorac
We report on a case of a two-year-old male dog, breed chow-chow, who suffered from urethral fistula as a result of ureterolithiasis. The urethral defect was identified intraoperatively with methylene blue. An autologous regenerative approach was combined with surgical closure of the defect, due to the well-known healing issues of the urethral wall in such conditions. A part of abdominal fat tissue was dissected to produce microfragmented adipose tissue containing mesenchymal stem cells, which was combined with platelet-rich plasma...
June 13, 2024: Croatian Medical Journal
https://read.qxmd.com/read/38868973/tissue-engineering-and-future-directions-in-regenerative-medicine-for-knee-cartilage-repair-a-comprehensive-review
#4
REVIEW
Dragan Primorac, Vilim Molnar, Dimitrios Tsoukas, Ilona Uzieliene, Carlo Tremolada, Petar Brlek, Emil Klarić, Dinko Vidović, Marija Zekušić, Jolita Pachaleva, Eiva Bernotiene, Adrian Wilson, Ali Mobasheri
This review evaluates the current landscape and future directions of regenerative medicine for knee cartilage repair, with a particular focus on tissue engineering strategies. In this context, scaffold-based approaches have emerged as promising solutions for cartilage regeneration. Synthetic scaffolds, while offering superior mechanical properties, often lack the biological cues necessary for effective tissue integration. Natural scaffolds, though biocompatible and biodegradable, frequently suffer from inadequate mechanical strength...
June 13, 2024: Croatian Medical Journal
https://read.qxmd.com/read/38868972/genomic-sequencing-for-newborn-screening-current-perspectives-and-challenges
#5
REVIEW
Nidhi Shah, Petar Brlek, Luka Bulić, Eva Brenner, Vedrana Škaro, Andrea Skelin, Petar Projić, Parth Shah, Dragan Primorac
Traditional newborn screening (NBS) serves as a critical tool in identifying conditions that may impact a child's health from an early stage. Newborn sequencing (NBSeq), the comprehensive analysis of an infant's genome, holds immense promise for revolutionizing health care throughout the lifespan. NBSeq allows for early detection of genetic disease risk and precision personalized medicine. The rapid evolution of DNA sequencing technologies and increasing affordability have spurred numerous endeavors to explore the potential of whole-genome sequencing in newborn screening...
June 13, 2024: Croatian Medical Journal
https://read.qxmd.com/read/38868971/dense-single-nucleotide-polymorphism-testing-revolutionizes-scope-and-degree-of-certainty-for-source-attribution-in-forensic-investigations
#6
REVIEW
Sammed N Mandape, Bruce Budowle, Kristen Mittelman, David Mittelman
The field of forensic DNA analysis has experienced significant advancements over the years, such as the advent of DNA fingerprinting, the introduction of the polymerase chain reaction for increased sensitivity, the shift to a primary genetic marker system based on short tandem repeats, and implementation of national DNA databases. Now, the forensics field is poised for another revolution with the advent of dense single nucleotide polymorphisms (SNPs) testing. SNP testing holds the potential to significantly enhance source attribution in forensic cases, particularly those involving low-quantity or low-quality samples...
June 13, 2024: Croatian Medical Journal
https://read.qxmd.com/read/38868970/identification-of-skeletal-remains-in-croatia-and-bosnia-and-herzegovina-including-the-homeland-war-a-30-year-review
#7
REVIEW
Dragan Primorac, Šimun Anđelinović, Marija Definis-Gojanović, Vedrana Škaro, Petar Projić, Miran Čoklo, Adna Ašić, Bruce Budowle, Henry Lee, Mitchell M Holland, Michael Baden, Damir Marjanović
Over the past 30 years, forensic experts from Croatia and Bosnia and Herzegovina have embraced advanced technologies and innovations to enable great efficacy and proficiency in the identification of war victims. The wartime events in the countries of former Yugoslavia greatly influenced the application of the selected DNA analyses as routine tools for the identification of skeletal remains, especially those from mass graves. Initially, the work was challenging because of the magnitude of the events, technical aspects, and political aspects...
June 13, 2024: Croatian Medical Journal
https://read.qxmd.com/read/38868969/strong-association-of-tlr2-and-tlr3-polymorphisms-with-keratoacanthoma-and-common-warts-a-case-control-study
#8
JOURNAL ARTICLE
Silvana Karabatić Knezović, Dora Knezović, Antonela Matana, Neira Puizina Ivić, Irena Drmić Hofman
AIM: To determine variations in allele and genotype frequencies between keratoacanthoma (KA) and common warts (CW), compared with the control group, in three single nucleotide polymorphisms (SNPs) within the TLR2, TLR3, and TLR9 genes. METHODS: This case-control study involved samples from 161 patients with KA, 152 patients with CW, and 469 controls. DNA was isolated from formalin-fixed paraffin-embedded tissue sections. Three SNPs - rs4696480 in TLR2, rs7657186 in TLR9, and rs35213 in TLR3 - were genotyped with TaqMan Genotyping Assays on the 7500 Real-Time PCR System...
June 13, 2024: Croatian Medical Journal
https://read.qxmd.com/read/38868968/association-of-ace2-and-tmprss2-genes-variants-with-disease-severity-and-most-important-biomarkers-in-covid-19-patients-in-bosnia-and-herzegovina
#9
JOURNAL ARTICLE
Neven Meseldžić, Besim Prnjavorac, Tanja Dujić, Maja Malenica, Una Glamočlija, Lejla Prnjavorac, Omer Bedak, Selma Imamović Kadrić, Damir Marjanović, Tamer Bego
AIM: To assess the association of single nucleotide polymorphisms (SNPs) in the ACE2 and TMPRSS2 genes with COVID-19 severity and key biomarkers. METHODS: The study involved 750 COVID-19 patients from Bosnia and Herzegovina, divided into three groups: mild, moderate, and severe cases. Genetic variations within the ACE2 (rs2285666) and TMPRSS2 (rs2070788) genes were examined with real-time polymerase chain reaction. Biochemical markers were determined with standard procedures...
June 13, 2024: Croatian Medical Journal
https://read.qxmd.com/read/38868967/precise-identification-of-cascading-alpha-satellite-higher-order-repeats-in-t2t-chm13-assembly-of-human-chromosome-3
#10
JOURNAL ARTICLE
Matko Glunčić, Ines Vlahović, Marija Rosandić, Vladimir Paar
AIM: To precisely identify and analyze alpha-satellite higher-order repeats (HORs) in T2T-CHM13 assembly of human chromosome 3. METHODS: From the recently sequenced complete T2T-CHM13 assembly of human chromosome 3, the precise alpha satellite HOR structure was computed by using the novel high-precision GRM2023 algorithm with global repeat map (GRM) and monomer distance (MD) diagrams. RESULTS: The major alpha satellite HOR array in chromosome 3 revealed a novel cascading HOR, housing 17mer HOR copies with subfragments of periods 15 and 2...
June 13, 2024: Croatian Medical Journal
https://read.qxmd.com/read/38868966/spectrum-of-genetic-variants-in-306-patients-with-non-syndromic-hearing-loss-from-croatia
#11
JOURNAL ARTICLE
Ivona Sansović, Ana-Maria Meašić, Adriana Bobinec, Leona Morožin Pohovski, Ljubica Odak, Katarina Vulin, Bernarda Lozić, Mijana Kero, Sanda Huljev Frković, Silvija Pušeljić
AIM: To determine the spectrum and frequency of disease-causing variants in patients with non-syndromic hearing loss (NSHL) and to investigate the diagnostic yield of the applied genetic methods. METHODS: The study enrolled 306 unrelated patients with childhood-onset, mild-to-profound NSHL referred to Children's Hospital Zagreb for genetic testing between March 2006 and October 2023. The GJB2 variants were analyzed with the multiplex ligation-dependent probe amplification method and Sanger sequencing of the coding region of the GJB2 gene...
June 13, 2024: Croatian Medical Journal
https://read.qxmd.com/read/38868965/pregnant-couples-attitude-toward-extended-pre-conceptional-genomic-screening
#12
JOURNAL ARTICLE
Mojca Čižek Sajko, Bernarda Prosenc, Lovro Vidmar, Gordana Njenjić, Paula Duff, Borut Peterlin
AIM: To determine the attitudes of pregnant couples toward carrier screening genomic tests. METHODS: A validated 22-item questionnaire was offered in person by medical staff to pregnant women ≥32 weeks' gestation and their partners attending prenatal classes from May to July 2014. The questionnaire inquired about demographic data, interest in various forms of genetic carrier screening tests, and genetic literacy. RESULTS: Of 497 respondents, 69% expressed strong interest in carrier screening...
June 13, 2024: Croatian Medical Journal
https://read.qxmd.com/read/38868964/non-invasive-prenatal-testing-of-beta-hemoglobinopathies-using-next-generation-sequencing-in-silico-sequence-size-selection-and-haplotyping
#13
JOURNAL ARTICLE
Henry A Erlich, Lily Ko, Jiyae Lee, Katrina Eaton, Cassandra D Calloway, Ashutosh Lal, Reena Das, Manu Jamwal, Christian Lopez-Pena, Steven J Mack
AIM: To develop a non-invasive prenatal test for beta-hemoglobinopathies based on analyzing maternal plasma by using next generation sequencing. METHODS: We applied next generation sequencing (NGS) of maternal plasma to the non-invasive prenatal testing (NIPT) of autosomal recessive diseases, sickle cell disease and beta-thalassemia. Using the Illumina MiSeq, we sequenced plasma libraries obtained via a Twist Bioscience probe capture panel covering 4 Kb of chromosome 11, including the beta-globin (HBB) gene and >450 genomic single-nucleotide polymorphisms (SNPs) used to estimate the fetal fraction (FF)...
June 13, 2024: Croatian Medical Journal
https://read.qxmd.com/read/38868963/occurrence-of-metopic-suture-in-modern-and-archaeological-croatian-population
#14
JOURNAL ARTICLE
Tina Bareša, Ivan Jerković, Željana Bašić, Ana Curić, Goran Dujić, Krešimir Dolić, Šimun Anđelinović, Dragan Primorac, Ivana Kružić
AIM: To determine the incidence of metopism in the modern and archaeological Croatian population. METHODS: A total of 800 specimens (454 modern multi-slice computed tomography [MSCT] scans and 346 dry archaeological skulls) were visually examined for metopic suture presence. The metopic suture was deemed complete when aligned nasion to bregma. RESULTS: In the overall sample, the metopic suture was observed in 36 of 800 subjects (4.5%): 19 of 424 (4...
June 13, 2024: Croatian Medical Journal
https://read.qxmd.com/read/38868962/personalized-medicine-the-future-is-here
#15
EDITORIAL
Dragan Primorac, Aaron Ciechanover
No abstract text is available yet for this article.
June 13, 2024: Croatian Medical Journal
https://read.qxmd.com/read/38868961/nearly-coming-full-circle-the-13th-isabs-mayo-clinic-conference-split-croatia-june-17-20-2024
#16
EDITORIAL
Stanimir Vuk-Pavlović, Dragan Primorac
No abstract text is available yet for this article.
June 13, 2024: Croatian Medical Journal
https://read.qxmd.com/read/38706244/palliative-care-too-complex-to-make-it-simple
#17
JOURNAL ARTICLE
Aleksandar Džakula, Karmen Lončarek, Dorja Vočanec
No abstract text is available yet for this article.
April 30, 2024: Croatian Medical Journal
https://read.qxmd.com/read/38706243/in-reply-to-neurological-side-effects-after-sars-cov-2-vaccinations-require-thorough-and-comprehensive-investigations
#18
LETTER
Grgur Salai, Ruđer Novak, Đivo Ljubičić, Lovorka Grgurević
No abstract text is available yet for this article.
April 30, 2024: Croatian Medical Journal
https://read.qxmd.com/read/38706242/neurological-side-effects-after-sars-cov-2-vaccinations-require-thorough-and-comprehensive-investigations
#19
LETTER
Josef Finsterer
No abstract text is available yet for this article.
April 30, 2024: Croatian Medical Journal
https://read.qxmd.com/read/38706241/person-centered-care-in-ophthalmology-current-knowledge-and-perspectives
#20
JOURNAL ARTICLE
Snježana Kaštelan, Neda Pjevač, Marijana Braš, Veljko Đorđević, Nada Pjevač Keleminić, Juan E Mezzich
No abstract text is available yet for this article.
April 30, 2024: Croatian Medical Journal
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