Prenatal Diagnosis of 18p Deletion and Isochromosome 18q Mosaicism in a Fetus with a Cystic Hygroma

Although, deletion of short arm of chromosome 18 is one of the most frequent autosomal terminal deletions, mosaic form of 18p deletion is infrequently observed. Furthermore, prenatally detected cases of 18p deletion and isochromosome 18q mosaicism are extremely rare. Herein, we present a case of del(18p)/i(18q) mosaicism, prenatally detected after chorionic villus sampling. A 37-year-old woman was referred for prenatal diagnosis because of fetal septated cystic hygroma measuring 4.3 mm. Cytogenetic analysis showed a mosaic 46,XX,del(18)(p11.2)/46,XX,i(18)(q10) karyotype in both, short- and long-term culture. Parents elected to terminate the pregnancy. Fetal mosaic karyotype was confirmed by chromosomal analysis of cultured skin fibroblasts. Molecular characterization of chromosome 18 structural aberrations was performed by fluorescence in situ hybridization (FISH). Considering variable ultrasound findings among cases with del(18p)/i(18q) mosaicism, we emphasized that first and second trimester ultrasound screening examinations for fetal malformations, followed by cytogenetic and molecular evaluations, are very important in the management of prenatally detected cases

Prenatal Diagnosis of 18p Deletion and Isochromosome 18q Mosaicism in a Fetus with a Cystic Hygroma

Although, deletion of short arm of chromosome 18 is one of the most frequent autosomal terminal deletions, mosaic form of 18p deletion is infrequently observed. Furthermore, prenatally detected cases of 18p deletion and isochromosome 18q mosaicism are extremely rare. Herein, we present a case of del(18p)/i(18q) mosaicism, prenatally detected after chorionic villus sampling. A 37-year-old woman was referred for prenatal diagnosis because of fetal septated cystic hygroma measuring 4.3 mm. Cytogenetic analysis showed a mosaic 46,XX,del(18)(p11.2)/46,XX,i(18)(q10) karyotype in both, short- and long-term culture. Parents elected to terminate the pregnancy. Fetal mosaic karyotype was confirmed by chromosomal analysis of cultured skin fibroblasts. Molecular characterization of chromosome 18 structural aberrations was performed by fluorescence in situ hybridization (FISH). Considering variable ultrasound findings among cases with del(18p)/i(18q) mosaicism, we emphasized that first and second trimester ultrasound screening examinations for fetal malformations, followed by cytogenetic and molecular evaluations, are very important in the management of prenatally detected cases

The Use of a Food Supplementation with D-Phenylalanine, L-Glutamine and L-5-Hydroxytriptophan in the Alleviation of Alcohol Withdrawal Symptoms

We described the use of a food supplementation with D-phenylalanine, L-glutamine and L-5-hydroxytriptophan in the alleviation of alcohol withdrawal symptoms in pateints starting a detoxification terapy. Since abstinence from ethanol causes a hypodopaminergic and a hypoopioidergic environment in the reword system circuits, manifesting with withdrawal symptoms, food supplements that contains D-phenylalanine a peptidase inhibitor (of opioide inactivation) and L-amino-acids (for dopamine synthesis) were used to replenish a lack in neurotransmitters and alleviate the symptoms of alcohol withdrawal. 20 patienets suffering from alcohol addictions starting a detoxification therapy have been included in a prospective, randomized, double blind study. The patients have been randomly devided in two groups. One group recieved for a period of 40 days a food supplement containing D-phenylalanine, L-glutamine and L-5-hydroxytriptophan (investigation group), and the control (placebo) group. On the first day of hospitalization the patients performed a SCL-90-R test, and blood samples were taken for measuring liver enzymes, total bilirubin, unbound cortisol and lymphocyte populations. The same was done on the 40th day of hospitalization. During the therapy a significant decrease in SCL-90-R psychiatric symptoms scores and a significant increase in CD4 lymphocyte count was observed in the investigation group. The cortisol values were significantly, but equally decreased in both groups, the same was with the liver enzymes and the total bilirubin values.We conclude that abstinence causes a major stress for the patients. The use of food supplement containing D-phenylalanine, L-glutamine and L-5-hydroxytriptophan alleviates the withdrawal symptoms and causes a rise in CD4 lymphocyte population, but it dose not affect the serum cortisol levels, which are probably more affected by liver inflammation and the liver restitution

Strengthening of masonry walls with FRP or TRM

U novije vrijeme uz tradicionalne metode pojačanja ziđa na posmik, koriste se i noviji materijali i sustavi kao što su polimeri armirani vlaknima (FRP) i tekstilom armirani mortovi (TRM). Potres koji se dogodio u Zagrebu i okolici 22. ožujka 2020. pokazao je osjetljivost nearmiranih zidanih zgrada na horizontalna djelovanja, potrebu za sanacijom oštećenja na nosivom i nenosivom ziđu i pojačanjem ziđa na posmik. Postojeći propisi ne pokrivaju proračune pojačanja s takvim sustavima. U radu su prikazani suvremeni postupci pojačanja ziđa FRP-om ili TRM-om, znanstvena istraživanja iz tog područja, prednosti i nedostaci te proračun takvih pojačanja.In addition to traditional methods of strengthening shear masonry walls, some newer materials and systems, such as fibre reinforced polymers (FRP) and textile reinforced mortars (TRM), have recently been introduced. The earthquake that occurred in Zagreb and its surroundings on 22 March 2020 has revealed the sensitivity of unreinforced masonry buildings to horizontal actions, while pointing to the need to repair damage to load-bearing and non-load-bearing walls and to strengthen walls against shear failure. Existing regulations do not cover design of structures with such systems. The paper presents modern procedures for strengthening masonry with FRP or TRM, scientific research in this area, advantages and disadvantages, and calculation of such reinforcements

Modification of conservative treatment of heterotopic cervical pregnancy by Foley catheter balloon fixation with cerclage sutures at the level of the external cervical os: a case report

<p>Abstract</p> <p>Introduction</p> <p>Conservative treatment of a heterotopic cervical pregnancy was performed with a modification of the fixation of a Foley catheter at the level of the external cervical os, followed by the ligature of the descending cervical branches of the uterine arteries and systemic methotrexate application.</p> <p>Case presentation</p> <p>A 34-year-old Caucasian woman was diagnosed with double gestation after 6 weeks of <it>in vitro </it>fertilization treatment. A gynecological examination and color Doppler ultrasound scan revealed intra-uterine and cervical gestational sacs both containing live fetuses. A Foley catheter balloon was inserted into the cervical canal, inflated and fixed by a cerclage suture at the level of the external cervical os, followed by ligation of the descending cervical branches of the uterine arteries. Systemic methotrexate was applied. Three days after removal of the Foley catheter, an evacuation of the intra-uterine gestational sac was performed. Hemorrhage from the implantation site was controlled immediately and a pregnancy termination was successfully performed. The procedure was uneventful and our patient was discharged with a preserved uterus.</p> <p>Conclusions</p> <p>Conservative treatment of cervical pregnancy using a Foley catheter balloon is more efficacious if the Foley catheter balloon is attached in the correct position with a cerclage suture at the level of the external os, followed by ligation of the descending cervical branches of the uterine arteries, thereby exerting maximal pressure on the bleeding vessels.</p

COMBINED ULTRASOUND AND BIOCHEMICAL SCREENING FOR FETAL ANEUPLOIDY AT 10 – 14 WEEKS OF PREGNANCY: FIRST RESULTS OF TEST PERFORMANCE IN CROATIA

Sažetak. Cilj rada. Retrospektivna studija nakon primjene kombiniranog ultrazvučno-biokemijskog testa probira trisomija u prvom tromjesečju trudnoće. Metode. Od veljače 2006. do srpnja 2008. godine probir je učinjen u 1112 trudnica između 10. i 14. tjedna trudnoće. Individualni rizik trisomije 21, 18 i 13 izračunavali smo kombinacijom dobnog rizika trudnice, ultrazvučnih biljega u ploda (debljina nuhalnog nabora – NT, udaljenosti tjeme-trtica – CRL) te biokemijskih biljega u serumu trudnice (slobodni -hCG i PAPP-A), pomoću licenciranog računalnog programa (Typolog). Koncentracije biokemijskih biljega smo određivali imunometrijskom kemiluminiscentnom metodom (IMMULITE). Biokemijske biljege, kao i NT u odnosu na CRL, izrazili smo u obliku višekratnika MoM, u odnosu na dnevne regresijske medijane za odgovarajuću gestaciju u neugroženim trudnoćama. Rezultate smo obradili nakon dovršenih svih ispitanih trudnoća. Ukupno su 62 testirane trudnice imale povećani kombinirani rizik trisomije 21, od kojih je 10 trudnica imalo i povećani rizik trisomije 18/13. Četiri trisomije 21 i jedna trisomija 18 otkrivene su prenatalnom dijagnozom; stopa detekcije bila je 100% (5/5). U trudnica s povećanim rizikom u probiru učinjeno je 7 biopsija koriona i 38 ranih amniocenteza. Udio lažno-pozitivnih rezultata bio je 5.1%. Zaključak. Prvi rezultati provođenja kombiniranog probirnog testa u Hrvatskoj potvrdili su visoku osjetljivost i veću specifičnost, u poredbi s biokemijskim probirnim testom u drugom tromjesečju trudnoće.Objective. Retrospective study of the results of the first-trimester combined screening for fetal trisomies with ultrasound and biochemical markers. Methods. In the period from February 2006 to July 2008, a total of 1112 pregnant-women underwent screening between the 10th and 14th gestational week. Individual risk for trisomies 21, 18 and 13, combining maternal age, ultrasonography (nuchal translucency, crown-rump length) and serum biochemical analytes (free -hCG, PAPP-A) was computed by means of licensed Typolog software. Concentrations of biochemical markers were determined by chemiluminiscent immunometric assay (IMMULITE). Both biochemical markers, as well as NT, were expressed as Multiples of the Median (MoM), based on the regressed medians of the corresponding gestational age in unaffected pregnancies. Results. All studied pregnancies were followed up to term. A total of 62 pregnant women were categorized as high-risk for trisomy 21, and 10 of them had also an elevated risk for trisomies 18/13, respectively. Four trisomies 21 and one trisomy 18 were detected through combined test and confirmed with prenatal diagnostic procedure. Detection rate was 100%. In those with high risk, 7 chorionic villi sampling and 38 amniocenteses were performed. False-positive rate was 5.1%. Conclusion. The results of the first-trimester screening in Croatia confirmed high sensitivity and better specificity of the combined ultrasonic and biochemical markers, in relation with the second-trimester biochemical screening test

COMBINED ULTRASOUND AND BIOCHEMICAL SCREENING FOR FETAL ANEUPLOIDY AT 10 – 14 WEEKS OF PREGNANCY: FIRST RESULTS OF TEST PERFORMANCE IN CROATIA

Sažetak. Cilj rada. Retrospektivna studija nakon primjene kombiniranog ultrazvučno-biokemijskog testa probira trisomija u prvom tromjesečju trudnoće. Metode. Od veljače 2006. do srpnja 2008. godine probir je učinjen u 1112 trudnica između 10. i 14. tjedna trudnoće. Individualni rizik trisomije 21, 18 i 13 izračunavali smo kombinacijom dobnog rizika trudnice, ultrazvučnih biljega u ploda (debljina nuhalnog nabora – NT, udaljenosti tjeme-trtica – CRL) te biokemijskih biljega u serumu trudnice (slobodni -hCG i PAPP-A), pomoću licenciranog računalnog programa (Typolog). Koncentracije biokemijskih biljega smo određivali imunometrijskom kemiluminiscentnom metodom (IMMULITE). Biokemijske biljege, kao i NT u odnosu na CRL, izrazili smo u obliku višekratnika MoM, u odnosu na dnevne regresijske medijane za odgovarajuću gestaciju u neugroženim trudnoćama. Rezultate smo obradili nakon dovršenih svih ispitanih trudnoća. Ukupno su 62 testirane trudnice imale povećani kombinirani rizik trisomije 21, od kojih je 10 trudnica imalo i povećani rizik trisomije 18/13. Četiri trisomije 21 i jedna trisomija 18 otkrivene su prenatalnom dijagnozom; stopa detekcije bila je 100% (5/5). U trudnica s povećanim rizikom u probiru učinjeno je 7 biopsija koriona i 38 ranih amniocenteza. Udio lažno-pozitivnih rezultata bio je 5.1%. Zaključak. Prvi rezultati provođenja kombiniranog probirnog testa u Hrvatskoj potvrdili su visoku osjetljivost i veću specifičnost, u poredbi s biokemijskim probirnim testom u drugom tromjesečju trudnoće.Objective. Retrospective study of the results of the first-trimester combined screening for fetal trisomies with ultrasound and biochemical markers. Methods. In the period from February 2006 to July 2008, a total of 1112 pregnant-women underwent screening between the 10th and 14th gestational week. Individual risk for trisomies 21, 18 and 13, combining maternal age, ultrasonography (nuchal translucency, crown-rump length) and serum biochemical analytes (free -hCG, PAPP-A) was computed by means of licensed Typolog software. Concentrations of biochemical markers were determined by chemiluminiscent immunometric assay (IMMULITE). Both biochemical markers, as well as NT, were expressed as Multiples of the Median (MoM), based on the regressed medians of the corresponding gestational age in unaffected pregnancies. Results. All studied pregnancies were followed up to term. A total of 62 pregnant women were categorized as high-risk for trisomy 21, and 10 of them had also an elevated risk for trisomies 18/13, respectively. Four trisomies 21 and one trisomy 18 were detected through combined test and confirmed with prenatal diagnostic procedure. Detection rate was 100%. In those with high risk, 7 chorionic villi sampling and 38 amniocenteses were performed. False-positive rate was 5.1%. Conclusion. The results of the first-trimester screening in Croatia confirmed high sensitivity and better specificity of the combined ultrasonic and biochemical markers, in relation with the second-trimester biochemical screening test

European Position Paper on Rhinosinusitis and Nasal Polyps 2020

The European Position Paper on Rhinosinusitis and Nasal Polyps 2020 is the update of similar evidence based position papers published in 2005 and 2007 and 2012. The core objective of the EPOS2020 guideline is to provide revised, up-to-date and clear evidence-based recommendations and integrated care pathways in ARS and CRS. EPOS2020 provides an update on the literature published and studies undertaken in the eight years since the EPOS2012 position paper was published and addresses areas not extensively covered in EPOS2012 such as paediatric CRS and sinus surgery. EPOS2020 also involves new stakeholders, including pharmacists and patients, and addresses new target users who have become more involved in the management and treatment of rhinosinusitis since the publication of the last EPOS document, including pharmacists, nurses, specialised care givers and indeed patients themselves, who employ increasing self-management of their condition using over the counter treatments. The document provides suggestions for future research in this area and offers updated guidance for definitions and outcome measurements in research in different settings. EPOS2020 contains chapters on definitions and classification where we have defined a large number of terms and indicated preferred terms. A new classification of CRS into primary and secondary CRS and further division into localized and diffuse disease, based on anatomic distribution is proposed. There are extensive chapters on epidemiology and predisposing factors, inflammatory mechanisms, (differential) diagnosis of facial pain, allergic rhinitis, genetics, cystic fibrosis, aspirin exacerbated respiratory disease, immunodeficiencies, allergic fungal rhinosinusitis and the relationship between upper and lower airways. The chapters on paediatric acute and chronic rhinosinusitis are totally rewritten. All available evidence for the management of acute rhinosinusitis and chronic rhinosinusitis with or without nasal polyps in adults and children is systematically reviewed and integrated care pathways based on the evidence are proposed. Despite considerable increases in the amount of quality publications in recent years, a large number of practical clinical questions remain. It was agreed that the best way to address these was to conduct a Delphi exercise. The results have been integrated into the respective sections. Last but not least, advice for patients and pharmacists and a new list of research needs are included.Peer reviewe

Methods for the Assessment of Critical Properties in Existing Masonry Structures under Seismic Loads - The ARES Project

Masonry structures are notoriously vulnerable to horizontal actions caused by earthquakes. Given the high seismicity of the European region, and that the European building stock comprises a lot of masonry buildings, knowledge about their structural response to seismic excitation is particularly important, but at the same time difficult to determine, due to the heterogenous nature of materials and/or constructional techniques in use. An additional issue is represented by the current methods for mechanical properties assessment, that do not provide a reliable framework for accurate structural estimations of existing buildings characterized by different typological properties. Every structure, in other words, should be separately inspected in regard to its mechanical behaviour, based on dedicated approaches able to capture potential critical issues. In this review paper, an insight on the Croatian ARES project is presented (Assessment and Rehabilitation of Existing Structures), including a state-of-the-art of the actual building stock and giving evidence of major difficulties concerning the assessment of existing structures. The most commonly used techniques and tools are compared, with a focus on their basic features and field of application. A brief overview of prevailing structural behaviours and Finite Element numerical modelling issues are also mentioned. As shown, the general tendency is to ensure \u201csustainable\u201d and energy-efficient building systems. The latter, however, seem in disagreement with basic principles of structural maintenance and renovation. The aim of the ongoing ARES project, in this context, is to improve the current knowledge regarding the assessment and strengthening of structures, with a focus on a more reliable design and maintenance process for existing masonry building

Review of Methods for Seismic Strengthening of Masonry Piers and Walls

The seismic strengthening of buildings in earthquake-prone areas has been a hot topic in recent years, especially for masonry structures. Because there are so many masonry structures and because most were built before seismic codes existed, their seismic vulnerability is an unavoidable issue. Over the years, several methods for seismic strengthening of masonry piers and walls have been developed that may roughly be classified as traditional or modern. In this paper, an overview of the most commonly used and effective methods will be presented with an emphasis on modern methods based on a Fabric-Reinforced Cementitious Matrix. The advantages and disadvantages will be discussed from the point of view of usability, feasibility, and effectiveness. Finally, a comparison will be drawn between traditional and new methods based on composite materials