Biomedical papers, 2019 (vol. 163), issue 4

Reviews

Therapeutic significance of hormone receptor positivity in patients with HER-2 positive breast cancer

Iveta Kolarova, Jaroslav Vanasek, Karel Odrazka, Bohuslav Melichar, Ales Ryska, Jiri Petera, Milan Vosmik, Martin Dolezel

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2019, 163(4):285-292 | DOI: 10.5507/bp.2019.060  

Introduction of agents targeting human epidermal growth factor receptor (HER)-2, e.g. trastuzumab, has transformed the natural history of HER-2 positive breast cancer. It is, however, evident that HER-2 positive breast cancers are a rather heterogeneous group of tumors. A substantial proportion of HER-2 positive tumors that also express hormone receptors is called triple-positive breast cancer, and these tumors are characterized by a different natural history and response to therapy compared to HER-2 positive tumors not expressing hormone receptors. The biology and natural history of triple-positive breast cancer is discussed with regard to potential therapeutic exploitation, i.e. emerging combination regimens with hormonal and other targeted drugs.

Has the time come for de-escalation in the management of oropharyngeal carcinoma?

Jana Durkova, Martin Boldis, Slavomira Kovacova

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2019, 163(4):293-301 | DOI: 10.5507/bp.2019.059  

HPV-positive oropharyngeal cancers have significantly better survival rates than tobacco and alcohol induced head and neck cancers. Consistent with this finding and due to younger age at diagnosis, novel approaches to minimize treatment sequelae while preserving survival outcomes have become of paramount importance. The results of several de-escalation trials have now been published. However, further research is needed before changing the standard of care in this setting of patients.

Prognostic and predictive markers for perineural and bone invasion of oral squamous cell carcinoma

Jaroslav Michalek, Svetlana Brychtova, Richard Pink, Zdenek Dvorak

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2019, 163(4):302-308 | DOI: 10.5507/bp.2019.032  

One of the most important factors that increase the risk of tumor recurrence is perineural and bone invasion. In this review we focus on the molecular mechanisms affecting local invasiveness of oral squamous cell carcinoma which can have impact on more accurate preoperative diagnosis of bone invasion and subsequent tailor-made therapy.

Original papers

Genetic architecture of recent-onset dilated cardiomyopathy in Moravian region assessed by whole-exome sequencing and its clinical correlates

Anna Chaloupka, Lenka Piherova, Ilga Grochova, Jana Binova, Jan Krejci, Lenka Spinarova, Viktor Stranecky, Stanislav Kmoch, Milos Kubanek

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2019, 163(4):309-317 | DOI: 10.5507/bp.2018.054  

In this pilot study, the authors are the first to assess the genetic architecture of recent-onset dilated cardiomyopathy in 83 individuals from the region of Moravia in the Czech Republic by whole-exome sequencing (WES). WES detected at least one disease-related variant in 54% of patients, highlight the genetic origin of the disease. Individuals with disease-related variants of non-titin genes showed impaired left ventricular reverse remodelling, a marker of poor prognosis, at 12-month follow-up compared to individuals with no genetic cause.

Heart failure disease management program, its contribution to established pharmacotherapy and long-term prognosis in real clinical practice - retrospective data analysis

Marie Lazarova, Dusan Lazar, Filip Malek, Jan Vaclavik, Milos Taborsky, Andrew Ignaszewski

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2019, 163(4):318-323 | DOI: 10.5507/bp.2018.059  

This paper provides valuable information on 735 HFrEF patients who achieved LV recovery with a favorable long term prognosis. Established pharmacotherapy with the achievement of target medication doses is unique in daily clinical practice. A disease management program, heart failure nurses and telemedicine support play a key role in this regard.

Selective coronary angiography, percutaneous coronary intervention and asymptomatic peri-procedural myocardial injury

Martin Griva, Jiri Stastny, Petr Kopriva, Martin Slabak, Zdenek Coufal, Jiri Jarkovsky, Michal Svoboda, Tomas Salek, Lucie Sukupova, Milos Taborsky

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2019, 163(4):324-330 | DOI: 10.5507/bp.2018.066  

While an asymptomatic elevation of high sensitivity cardiac troponin (hs-cTnI) is a common finding after percutaneous coronary intervention (PCI), it does occur, quite surprisingly, also after coronary angiography (CAG). Concerning PCI, there are relationships with the total time of balloon dilation, the number of implanted stents and the total length of the implanted stents. An interesting finding is the significant relationship between hs-cTnI elevation and the amount of contrast agent and X-ray dose. Though mild troponin elevation has most probably no effect on left ventricular function or arrhythmogenesis to directly impact survival, it may pose a diagnostic quandary following a successful interventional procedure and even more so after uncomplicated coronary angiography.

Hypotension as a symptom of autonomic neuropathy in patients with advanced malignancies

Filip Kohutek, Jaroslav Katrlik, Branislav Bystricky

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2019, 163(4):331-334 | DOI: 10.5507/bp.2018.073  

The goal was to assess the frequency of paraneoplastic neurological disorders in patients with advanced malignancy. Hypotension may be a symptom of paraneoplastic neuropathy

Various surgical techniques for the repair of injured vas deferens in rat experiments

Radek Stichhauer, Jaroslav Koudelka, Ales Ryska, Helena Zivna, Milan Kaska

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2019, 163(4):335-340 | DOI: 10.5507/bp.2018.069  

Repair of inguinal hernia represents one of the most frequent general surgical operations in newborns, infants, and toddlers. Injury to the vas deferens (VD) during herniotomy is one of the most common complications in 0.8-2.0 % of cases. The aim of this study was to evaluate whether the different vasovasostomy techniques can be performed using only the operating loupe in a rat model. This operating method is predicted to be applicable in standard departments of pediatric surgery.

18F-FDG PET/CT and 99mTc-HMPAO-WBC SPECT/CT effectively contribute to early diagnosis of infection of arteriovenous graft for hemodialysis

Monika Medricka, Jana Janeckova, Pavel Koranda, Eva Buriankova, Petr Bachleda

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2019, 163(4):341-348 | DOI: 10.5507/bp.2019.025  

Infection of the AVG is a serious and life-threatening complication. 18F-FDG PET/CT and 99mTc-HMPAO-WBC SPECT/CT can both serve as important tools contributing to early diagnosis of AVG infection.

Glutathione S-transferase enzyme activity and protein expression in patients with recurrent tonsillitis and idiopathic tonsillar hypertrophy

Sedat Aydin, Mehmet Gokhan Demir, Serpil Oguztuzun, Murat Kilic, Can Yilmaz, Onur Dirican

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2019, 163(4):349-354 | DOI: 10.5507/bp.2019.002  

In this study, the authors investigated antioxidant enzyme activity in recurrent tonsillitis and idiopathic tonsillar hypertrophy diseases. They showed increased levels of glutathione s transferase levels in a recurrent tonsillitis group also detected at tissue level. To their knowledge, this is the first study showing this relation supported at a tissue level.

Clinical and laboratory characteristics of enteroviral meningitis in children, including qRT-PCR and sequencing analysis

Adriana Braunova, Lenka Krbkova, Petra Rainetova, Martin Musilek, Iva Capovova, Lenka Klapacova, Vaclav Musil, Lukas Homola, Tamara Kravalova, Jana Bednarova, Michal Kyr

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2019, 163(4):355-361 | DOI: 10.5507/bp.2018.082  

Shorter duration of symptoms before sampling, slightly elevated inflammatory parameters in blood, predominance of PN and elevated lactate in CSF can have predictive value in diagnosing EV meningitis. ECHO virus 30 is frequently detected as an agent of aseptic meningitis in children and a cause of outbreaks in the Czech Republic.

Paramyotonia congenita in a Slovak population: Genetic and pedigree analysis of 3 families

Frantisek Cibulcik, Peter Spalek, Ivan Martinka, Jana Zidkova, Milan Grofik, Stefan Sivak, Egon Kurca

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2019, 163(4):362-365 | DOI: 10.5507/bp.2018.078  

Paramyotonia congenita (PMC) is an autosomal dominant disorder with paradoxical myotonia, defined as increased stiffness on repeated activities, and cold-induced muscle stiffness. Only a few families with no genetic testing have been reported in Slovakia. The authors analyzed SCN4A genetic mutations in 3 Slovak families clinically diagnosed with paramyotonia. They identified 2 mutations in the SCN4A gene associated with PMC. The results highlight the importance of screening SCN4A in genetic studies of non-dystrophic myotonias.

Comparative efficacy of continuous infusion of bupivacaine/fentanyl and ropivacaine/fentanyl for paediatric pain control after the Ravitch procedure and thoracotomy. A prospective randomized study

Lucyna Tomaszek, Dariusz Fenikowski, Danuta Gawron, Halina Komotajtys

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2019, 163(4):366-373 | DOI: 10.5507/bp.2018.072  

Thoracic epidural bupivacaine/fentanyl provide adequate pain relief and similar analgesia to ropivacaine/fentanyl in children and adolescents after the Ravitch procedure and thoracotomy. The effectiveness of analgesia depends on the number of pain measurements and the number of interventions undertaken by nurses to relieve pain. Modifying postoperative analgesia by nurses based on the pain assessment at rest, during deep breathing and coughing is a key to adequate pain control.

The yield of structural magnetic resonance imaging in autism spectrum disorders

Jiri Lisy, Andrea Efremova, Michal Hrdlicka

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2019, 163(4):374-378 | DOI: 10.5507/bp.2018.074  

This study examines the clinical utility of magnetic resonance imaging as part of diagnostic procedures on autism. The key finding of the study was that corpus callosum hypoplasia was significantly more common in the autistic compared to the control group (13.7 vs. 0%), and it appears to be the rather specific finding, which should raise suspicion of autism.

Case report

Late diagnosis of complete androgen insensitivity syndrome and transmission/carriers of the condition in a family with mutation c.2495G> T p.(Arg832Leu) in exon 7 of the androgen receptor gene: genetic, clinical and ethical aspects

Renata Pomahacova, Jana Zamboryova, Petra Paterova, Anna Krepelova, Ivan Subrt, Radka Jaklova, Petra Vohradska, Eliska Hrdonkova, Josef Sykora

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2019, 163(4):379-382 | DOI: 10.5507/bp.2018.067  

This article decribes an unexpected diagnosis of CAIS in two siblings during examination for short stature, transmission/carriers in this family and ethical aspects of disorders of sexual development.