Category Archives: Number

Heterozygous Deletion in Exons 4-5 of SHOX Gene in a Patient Diagnosed as Idiopathic Short Stature

Anna David1, Imre Zoltán Kun1, Gábor Nyírő2, Zsuzsánna Szántó1, Attila Patócs2,3

1 University of Medicine and Pharmacy, Tirgu Mures, Romania
2 Department of Laboratory Medicine, Semmelweis University, Budapest, Hungary
3 MTA-SE Molecular Medicine Research Group, Budapest, Hungary

DOI: 10.1515/amma-2017-0028

Introduction: Isolated Short Stature Homeobox (SHOX) gene haploinsufficiency can be found in 2-15% of individuals diagnosed with idiopathic short stature determining different skeletal phenotypes.
Case presentation: We present the history of an 11-year-old female patient diagnosed with idiopathic short stature. Clinically, she was moderately disproportionate, with cubitus valgus and palatum ogivale. Her breast development was in Tanner stage 1 at the time of diagnosis. The endocrine diagnostic tests did not reveal any abnormalities except a slightly elevated thyroid stimulating hormone. We have also assessed the bone radiological findings. Multiplex Ligation-dependent Probe Amplification technique used for the identification of SHOX gene haploinsufficiency showed a heterozygous deletion spanning exons 4-5 of SHOX gene.
Conclusions: This case is determined by deletions in exons 4-5 of SHOX gene and indicates the necessity of screening for SHOX deletions in patients diagnosed with idiopathic short stature, especially in children having increased sitting height-to-height ratio or decreased extremities-to-trunk ratio.

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Transthoracic 3D Echocardiographic Imaging of Type A Aortic Dissection – Case Presentation

István Adorján Szabó, Ildikó Kocsis, Zoltán Fogarasi, Boglárka Belényi, Attila Frigy

Clinical County Hospital Mures, Romania

DOI: 10.1515/amma-2017-0027

In type A aortic dissection (AoD) an early and accurate diagnosis is essential to improve survival, by applying urgent surgical repair. 3D transthoracic echocardiography (3D-TTE), an advanced noninvasive imaging technique, could offer a comprehensive evaluation of the ascending aorta and aortic arch in this regard. Both modalities of real-time 3D imaging – live 3D and full-volume aquisition – proved to be useful in evaluating the localization and extent of AoD. Our case illustrates the utility of 3D-TTE in the complex assessment AoD. By providing the proper anatomical dataset, 3D-TTE could facilitate considerably the diagnosis of type A AoD.

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Ultrasound Guidance Versus Peripheral Neurostimulation for Brachial Plexus Block Anesthesia with Axillary Approach and Multiple Injection Technique

Alexandra Lazar, János Szederjesi, Elena Iftenie, Leonard Azamfirei

University of Medicine and Pharmacy Tîrgu Mureș, Romania

DOI: 10.1515/amma-2017-0025

Introduction: There are several approaches for brachial plexus anesthesia: supraclavicular, infraclavicular, interscalenic and axillary. Out of these, the axillary approach is considered to be the safest because of the low risk of lesioning the adjacent structures, low risk of phrenic nerve blockade or of producing an iatrogenic pneumothorax. The block can be performed by one single injection at the site, by two injections or by several injection, among each nerve of the plexus. Ultrasound was introduced in regional anesthesia since 1978, being used initially as an auxiliary method to peripheral neurostimulator.
Objectives: The evaluation of ultrasound efficiency as an auxiliary method for brachial plexus block performance, in terms of success rate, vascular punctures. The influence of obesity on performing time, total duration of the block, and success rate of brachial plexus block.
Material and method: Prospective, randomized study which enrolled adult patients, scheduled for surgical emergency or elective surgical intervention on upper limb with brachial plexus block by axillary approach, using either the peripheral nerve stimulation or the ultrasound guidance.
Results: We enrolled 160 patients, grouped in two sets- the ultrasound group= 82 patients (US) the neurostimulation group = 78 patients (NS). Vascular punctures were statistically significant different p= 0, 04. The success rate was not influenced by the obesity.
Conclusions: Ultrasound guidance makes axillary brachial plexus block safer, we can recommend ultrasound guidance as routine for axillary brachial plexus block. The obese patient can beneficiate by both methods of brachial plexus blockage.

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The Wnt Signalling Pathways: A Short Review and Specific Roles in Bone Biochemistry

Béla Kovács1, Előd Ernő Nagy2, Norbert Nándor Chendrean2, Blanka Székely-Szentmiklósi3, Árpád Gyéresi3

1. University of Medicine and Pharmacy Tîrgu Mureș, Romania
2. Department of Biochemistry and Environmental Chemistry, University of Medicine and Pharmacy Tîrgu Mureș, Romania
3. Department of Pharmaceutical Chemistry, University of Medicine and Pharmacy Tîrgu Mureș, Romania

DOI: 10.1515/amma-2017-0026

As musculoskeletal diseases become an emerging healthcare problem worldwide, profound and comprehensive research has been focused on the biochemistry of bone metabolism in the past decades. Wnt signalling, one of the novel described pathways influencing bone metabolism from the early stages of tissue development, has been recently in the centre of attention. Several Wnt ligands are implied in bone forming pathways via canonical (β-catenin dependent) and non-canonical (β-catenin independent) signalling. Osteoporosis, a catabolic bone disease, has its pathologic background related, inter alia, to alterations in the Wnt signalling, thus key modulators of these pathways became one of the most promising targets in the treatment of osteoporosis. Antibodies inhibiting the activity of endogenous Wnt pathway inhibitors (sclerostin, dickkopf) are recently under clinical trials. The current article offers a brief review of the Wnt signalling pathways, its implication in bone metabolism and fate, and the therapeutic possibilities of osteoporosis through Wnt signalling.

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Assessment of Post-Occlusive Reactive Hyperaemia in the Evaluation of Endothelial Function in Patients with Lower Extremity Artery Disease

Cosmin Carasca1, Annamaria Magdas2, Ioan Tilea3, Alexandru Incze2

1 University of Medicine and Pharmacy of Tirgu Mureş, Romania
2 Department of Internal Medicine IV, University of Medicine and Pharmacy of Tirgu Mureş, Romania
3 Cardiovascular Rehabilitation Clinic, Department of Family Medicine, Institute of Cardiovascular Diseases and Transplantation Tîrgu-Mures, Romania, University of Medicine and Pharmacy of Tirgu Mureş, Romania

DOI: 10.1515/amma-2017-0024

Background: The aim was to assess endothelial function with photoplethysmography (PPG), by post-occlusive reactive hyperaemia (PORH) combined with alprostadil challenge test in patients with peripheral artery disease (PAD).
Methods: Forty-nine PAD patients stage II-III Fontaine (39 male, 10 female, mean age 68.45±5.86 years) and a control group of 49 healthy individuals (24 male, 25 female; mean age 25.1±3.8 for a young subgroup; 71.0±0.16 years for an elderly subgroup) were included. Ankle-brachial index (ABI) was assessed at baseline, peripheral perfusion (PP) and PORH were assessed at baseline and after the 30 minutes administration of parenteral alprostadil.
Results: After 3 minutes of arterial occlusion, peripheral perfusion increased from 0.69±0.94 mV/V to 2.27±2.42 mV/V (p<0.0001). After alprostadil challenge, peripheral perfusion increased from 0.84±1.24 mV/V to 4.52±3.52 mV/V (p<0.0001). In controls PP was 2.4±1.7 mV/V versus 3.8±1.5 mV/V, p<0.0001.
Conclusion: In patients with PAD, an increase in PORH after alprostadil challenge due to the release of nitric oxide (NO), provides information on the endothelial function and could reflect the presence of collaterals. In the healthy control group, the increase in PORH could reflect the integrity of main arterial branch. In PAD patients with an increase in PORH, conservative therapy should be preferred over surgical revascularisation.

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Retraction

DOI: 10.1515/amma-2017-0019

By the request of corresponding author Fogarasi Erzsébet, the article „Could Codeine Containing OTC Analgesics Sold in Romania be Used as Recreational Drugs?” published in Acta Medica Marisiensis, 2016;62(3):309-312 (DOI 10.1515/amma-2016-0031) was retracted, due to identified Conflicts of Interest.
As an immediate consequence of the aforementioned retraction, the accompanying editorial “The Culprit Coffee Filter and Freezer?” published in Acta Medica Marisiensis, 2016;62(3) had to be retracted for lack of object. This does not mean that we deny or back off the content of the editorial.

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Fresh or Frozen Berry Fruits?

Andrei-Șerban Gâz-Florea

Editor

Recent studies suggest that diet rich in fruits and vegetables could be associated with reduced risk of coronary hard disease, stroke and even cancer [1]. Both fruits and vegetables are important sources of vitamins (e.g. group of vitamins B and C), minerals and fibers. Berry fruits are considered the healthiest, being also called the “super fruits”. They are rich in anthocyanins, catechins, ellagic acid, vitamin C, flavonoids and antioxidants.
Catechins are flavonols that support the antioxidant defense system, while anthocyanins (water-soluble colored pigments that depending on their pH, could have red, blue or purple color) are associated with a low risk of certain cancers, prevent aging, improve memory function and the urinary tract health. Both catechins and anthocyanins have antioxidant properties [2].
Antioxidants are substances that protect the body by neutralizing free radicals or unstable molecules of oxygen that are major sources of disease and aging and can damage the body cells. They reduce the inflammation, neurodegenerative oxidative stress and macular degeneration, improve cardiovascular functions and decrease the risk of cancer. [More]

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Letrozole Determination by Capillary Zone Electrophoresis and UV Spectrophotometry Methods

Aura Rusu1, Maria-Alexandra Sbanca2, Nicoleta Todoran3, Camil-Eugen Vari4

1 Department of Pharmaceutical Chemistry, University of Medicine and Pharmacy of Tîrgu Mureş
2 University of Medicine and Pharmacy of Tîrgu Mureş
3 Department of Pharmaceutical Technology, University of Medicine and Pharmacy of Tîrgu Mureş
4 Department of Pharmacology and Clinical Pharmacy, University of Medicine and Pharmacy of Tîrgu Mureş

DOI: 10.1515/amma-2017-0022

Objective: Letrozole is a highly potent oral nonsteroidal aromatase inhibitor triazole derivative. The aim of this study was to quantify letrozole from bulk, pharmaceutical formulation, and spiked urine samples by developing a simple, rapid and cost effective capillary electrophoresis method. Methods: A capillary zone electrophoresis method was optimized and validated. Additionally, an UV spectrophotometry method was used for comparing results. Results:The capillary zone electrophoresis method using a 90 mM sodium tetraborate background electrolyte proved to be an efficient method for determination of letrozole in a very short time, less than 2 minutes, using 20 kV voltage, 50 mbar/2 seconds pressure and 50°C temperature as optimum parameters. Additionally, the UV spectrophotometry method proved to be simple and efficient to quantify letrozole from bulk material and pharmaceutical formulation with linearity of response between 5 to 20 µg·mL-1 concentrations. For both methods, validation parameters, including linearity, detection and quantification limits were determined. Also we proved that our electrophoretic method has potential in analyzing letrozole from biological samples, obtaining encouraging results on estimation of letrozole from spiked urine samples without any special treatment. Conclusions: To quantify letrozole from bulk material, pharmaceutical preparations, and spiked urine samples the capillary zone electrophoresis method using a tetraborate sodium background electrolyte has proven to be simple and appropriate. Also a simple UV spectrophotometric method has been developed and validated for the same purposes.

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The Influence of CYP2D6 Phenotype on the Pharmacokinetic Profile of Atomoxetine in Caucasian Healthy Subjects

Ioana Todor1, Dana Muntean1, Maria Neag2, Corina Bocsan2, Anca Buzoianu2, Laurian Vlase1, Daniel Leucuta3, Ana-Maria Gheldiu1, Adina Popa4, Corina Briciu4

1 University of Medicine and Pharmacy “Iuliu Hatieganu”, Faculty of Pharmacy, Department of Pharmaceutical Technology and Biopharmaceutics, Cluj-Napoca, Romania
2 University of Medicine and Pharmacy “Iuliu Hatieganu”, Faculty of Medicine, Department of Pharmacology, Toxicology and Clinical Pharmacology, Cluj- Napoca, Romania
3 University of Medicine and Pharmacy “Iuliu Hatieganu”, Department of Medical Informatics and Biostatistics, Cluj-Napoca, Romania
4 University of Medicine and Pharmacy “Iuliu Hatieganu”, Faculty of Pharmacy, Department of Clinical Pharmacy, Cluj-Napoca, Romania

DOI: 10.1515/amma-2017-0023

Objective: To analyze a potential phenotypic variation within the studied group based on the pharmacokinetic profile of atomoxetine and its active metabolite, and to further investigate the impact of CYP2D6 phenotype on atomoxetine pharmacokinetics.
Methods: The study was conducted as an open-label, non-randomized clinical trial which included 43 Caucasian healthy volunteers. Each subject received a single oral dose of atomoxetine 25 mg. Subsequently, atomoxetine and 4-hydroxyatomoxetine-O-glucuronide (glucuronidated active metabolite) plasma concentrations were determined and a noncompartmental method was used to calculate the pharmacokinetic parameters of both compounds. Further on, the CYP2D6 metabolic phenotype was assessed using the area under the curve (AUC) metabolic ratio (atomoxetine/ 4-hydroxyatomoxetine-O-glucuronide) and specific statistical tests (Lilliefors (Kolgomorov-Smirnov) and Anderson-Darling test). The phenotypic differences in atomoxetine disposition were identified based on the pharmacokinetic profile of the parent drug and its metabolite.
Results: The statistical analysis revealed that the AUC metabolic ratio data set did not follow a normal distribution. As a result, two different phenotypes were identified, respectively the poor metabolizer (PM) group which included 3 individuals and the extensive metabolizer (EM) group which comprised the remaining 40 subjects. Also, it was demonstrated that the metabolic phenotype significantly influenced atomoxetine pharmacokinetics, as PMs presented a 4.5-fold higher exposure to the parent drug and a 3.2-fold lower exposure to its metabolite in comparison to EMs.
Conclusions: The pharmacokinetic and statistical analysis emphasized the existence of 2 metabolic phenotypes: EMs and PMs. Furthermore, it was proved that the interphenotype variability had a marked influence on atomoxetine pharmacokinetic profile.

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