Category Archives: Review

Possibilities and Challenges in the Molecular Diagnosis Of Lysosomal Storage Disorders

Csép Katalin1, Drugan Cristina2, Bănescu Claudia1

1 Department of Genetics, University of Medicine and Pharmacy, Tîrgu Mureș, Romania
2 Department of Biochemistry, University of Medicine and Pharmacy, Cluj-Napoca, Romania

In inherited metabolic diseases, the final diagnosis is generally made by classic biochemical methods, despite the monogenic etiology. In lysosomal storage disorders, the suspected clinical diagnosis is confirmed by enzyme assay, and DNA analysis is not mandatory for the diagnosis or initiation of the treatment. Like in most enzyme deficits, the inheritance is recessive (autosomal or X-linked). Genetic heterogeneity is characteristic, and hundreds of alleles of the same gene may exist, caused by various mechanisms or mutations at different nucleotide levels. Besides the targeted analysis of the most frequent mutations (N370S, L444P, R463C, 84GG, recNciI, recTL) in Gaucher disease carried out in the national diagnostic center, often mutation scanning and sequencing is required. Though data must be carefully interpreted, molecular testing may provide important additional information, and it is the basis of carrier testing and prenatal diagnosis. The genotype-phenotype correlation remains inconclusive in most of the cases, though sometimes it can be used as a prognostic marker.

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The Influence of Acute Phase Blood Pressure on Stroke Outcome: To Treat Or Not To Treat?

Szőcs Ildikó1,2, Bereczki D4, Orbán-Kis K1,2, Szász JA2,3, Győri LF5,6, Szatmári Sz2,3

1 Department of Physiology, University of Medicine and Pharmacy, Tîrgu Mureş, Romania
2 2nd Clinic of Neurology, County Emergency Clinical Hospital, Tîrgu Mureș, Romania
3 Department of Neurology, University of Medicine and Pharmacy, Tîrgu Mureş, Romania
4 Department of Neurology, Semmelweis University, Budapest, Hungary
5 1st Clinic of Cardiology, County Emergency Clinical Hospital, Tîrgu Mureș, Romania
6 Department of Cardiology, University of Medicine and Pharmacy, Tîrgu Mureş, Romania

Romania ranks third in stroke mortality among countries reporting vascular statistics. Acute phase blood pressure has a major influence on stroke outcome. This review aims to give an overview of available data regarding the prevalence of extreme (both low and high) values of blood pressure in acute phase of stroke, impact of blood pressure on stroke prognosis, recommendations on the management of blood pressure, available national data, large ongoing internationl trials with possible impact on stroke guidelines.
The consensus of the EUSI panel is that “emergency administration of antihypertensive agents should be withheld unless the diastolic blood pressure is >120 mm Hg or unless the systolic blood pressure is >220 mm Hg. The panel remains concerned by the evidence that aggressive lowering of blood pressure among patients may cause neurological worsening, and the goal is to avoid overtreating patients with stroke until definitive data are available”.

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New Therapeutic Perspectives in Hypertension Treatment

Makó Katalin

2nd Department of Internal Medicine, University of Medicine and Pharmacy, Tîrgu Mureș, Romania

Despite the many therapeutic options available today for the treatment of hypertension, a large number of patients remain uncontrolled. The classic antihypertensive therapies including β-blockers, diuretics, calcium channel blockers and the wide class of renin–angiotensin–aldosterone system blockers (converting enzyme inhibitors, angiotensin receptor blockers, renin inhibitors, and mineralocorticoid receptor blockers), are variably successful in achieving the target blood pressure values in hypertensive patients. Although these numerous, safe and effective pharmacologic therapies are available to treat hypertension, novel therapeutic approaches are warranted to improve the management and prognosis of patients with this condition. Several lines of research suggest promising results based on novel pharmacologic and device-based approaches that may treat effectively resistant hypertension and target organ damage in the future. A large number of the new therapeutic strategies are related to renin angiotensin aldosterone system (RAAS). Modulation of the RAAS provides the rationale for current new antihypertensive drugs already used in clinical practice, including eplerenone and aliskiren. The combined angiotensin-converting-enzyme and neutral endopeptidase blockade decreases blood pressure, aldosterone synthase inhibitors improve tolerability in aldosterone antagonism, prorenin-receptor blockers could prevent the angiotensin-independent actions of renin. In the past few years new minimally invasive surgical procedures like carotid baroreceptor activation and renal symphatetic denervation were developed and could be a therapeutic option for patients with uncontrolled hypertension.

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Magnetic Resonance Mammography: Actual Trends and Perspectives

Nechifor-Boila IA1, Buruian M1, Borda Angela2

1 Department of Radiology and Medical Imaging, County Emergency Clinical Hospital, Tîrgu Mureș, Romania
2 Department of Histology, University of Medicine and Pharmacy, Tîrgu Mureș, Romania

Introduction: Magnetic Resonance Mammography (MRM) is a new radiologic examination with wide perspectives in breast cancer diagnosis. We performed a systematic review of the literature, in order to obtain a clear view on the actual role of MRM, together with an accurate evaluation of its performance in clinical settings.
Material and methods: We conducted a thorough PubMed search, both directly and through MeSH (Medical Subject Headings), using specific keywords. We then applied the following filters: articles published only between 1999 and 2011 and written in English or French. Priority was given to reviews and clinic trials according to previously set criteria.
Results: We evaluated the clinical efficiency of MRM using sensitivity, specificity and predictive values (positive and negative). Sensitivity varied between 81 and 98%, while specificity had a much wider dispersion (65–93%), thus supporting the statement that MRM is a sensitive but not a specific examination. Diffusion MRM was comparable to standard MRM, while spectroscopy showed a low sensitivity and a high specificity.
Conclusions: MRM is a complex investigation, with well documented recommendations and good sensitivity. Diagnostic specificity remains an important issue, but with improvement perspectives from new techniques like diffusion and spectroscopy.

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The Role of the General Practitioner in Detection and Control of Tuberculosis

Ács Valeria1, Ianosi Edith Simona2

1 Doctoral School, University of Medicine and Pharmacy, Tîrgu Mureş, Romania
² Department of Pulmonology, University of Medicine and Pharmacy, Tîrgu Mureş, Romania

In Romania, the detection, diagnosis, treatment and prophylaxis of tuberculosis (TB) is being preformed according to the “National Strategy for TB Control 2007–2011”, part of the National Program for the Control of TB 2007–2011 that has been approved by Government Decree. The program has been developed by Romanian experts and it observes the WHO requirements regarding the Global Control of TB in the world. The National Strategy for TB Control aims to maintain a 100% coverage of the WHO DOTS (Directly Observed Therapy in Short course) strategy for prevention of abandon, failures and disorganized treatments with missed doses that may lead to development of chemoresistant strains. It is obvious that the family physician in direct contact with the population is the most suitable to identify TB suspects and their contacts, and to contribute to the correct progress of the outpatient treatment of TB.

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Nutritional Approach of Pediatric Patients Diagnosed with Congenital Heart Disease

Togănel Rodica

II Pediatric Cardiology Clinic, County Emergency Clinical Hospital, Tîrgu Mureș, Romania

 

DOI: 10.2478/amma-2013-0029

Congenital heart defects are among the most frequent anomalies present at birth, representing a heterogeneous group of malformations, both in terms of pathogenesis and clinical significance of the lesion. Failure to grow is well documented in infants with complex congenital heart defects; the presence of associated chromosomal abnormalities, cyanosis, and cardiac failure adds to the complexity and challenge. Malnutrition etiology can be grouped into the following three categories: inadequate intake, inefficient absorption and utilization, and/or increased energy needs. The consequences of malnutrition are both short and long term, timely nutritional intervention being necessary in order to maintain an adequate nutritional state. Because there are several types of congenital heart defects and multiple mechanisms by which they produce failure to thrive, no single strategy will be adequate to treat all cases. Medical complications such as chylotorax, necrotizing enterocolitis, laryngeal and neurological dysfunction play a major role in the requisite nutrition therapy in infants with congenital heart defect; limited access to human milk and parenteral concerns, as well as stress about feeding are also factors that can contribute to poor outcomes concerning nutrition and growth. Protocols are being considered and designed, and a systematic approach is always needed. The quality of life for patient and family, as well as getting the child back on track for age-appropriate development are always at the fore-front of each care plan.

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Therapeutical Approach of Osteoporosis — a Multidisciplinary Issue

Gliga Camelia1, Marcu Simona1, Gliga M2

1 Department of Histology, University of Medicine and Pharmacy, Tîrgu Mureş, Romania
2 Obstetrics and Ginecology Clinic No. 2, University of Medicine and Pharmacy, Tîrgu Mureş, Romania

DOI: 10.2478/amma-2013-0053

Osteoporosis is the most frequent systemic disease of the bone, that affects elderly, mainly women in menopause. It can be defined by lowering of bone mass and microarchitectural deterioration of the bone tissue, resulting in an increased bone fragility. Main complications of osteoporosis are fractures of the vertebrae, hips and forearm. In view of its large variety of causes and manifestations, diagnostic and therapeutical approach in osteoporosis represents a multidisciplinary issue. The accurate diagnosis of osteoporosis is based on a method that measures the bone mineral density, expressed by the T-score, using dual energy X-ray absorptiometry, so called DXA. Lately, in practice in order for establishing the risk of osteoporosis and osteoporotic fracture the FRAX tool is increasingly used (The Fracture Risk Assessment). Treatment of osteoporosis is complex involving non-pharmacological and pharmacological measures. Non-pharmacological methods include preventive measures like exercise, external hip protectors, increase of dietary intake of calcium, vitamin D and proteins, especially in elderly, over 65 years. Pharmacological measures are represented by different types of drugs, including biphosphonates, bone formation stimulatory drugs, agents with new mechanisms of action, hormone replacement therapy and they will be indicated only after a detailed clinical and paraclinical examination of the patient. Regardless of the chosen pharmacological measure, periodical follow-up of efficacy, side-effects and complications of antiosteoporotic treatment, by clinical examination and laboratory investigations targeting bone remodelling, is strongly indicated.

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New Perspectives in the Management of Aortic Intramural Hematoma – A Literature Review

Pal Kinga1, Rat Nora1, Ferent I1, Jako Beata2, Bajka B2, Benedek I2

1 County Emergency Clinical Hospital, Targu Mures, Clinic of Cardiology
2 University of Medicine and Pharmacy of Tîrgu Mures, Department M3, Discipline of Internal Medicine 6 – Clinic of Cardiology

DOI: 10.2478/amma-2014-0038

Aortic intramural hematoma frequently appear in elderly hypertensive patients who suffered a vasa vasorum rupture into the media, presenting clinical symptoms similar to aortic dissection. The current available data suggest a similar treatment strategy as in aortic dissection, although intramural hematoma is a different pathophysiological entity. The issue of the vulnerable contact of the intraaortic plaque, which is prone to rupture and to trigger the formation of an intramural hematoma, has not been elucidated so far. We present a brief literature review regarding complex plaque analysis, which opens a new area in identification of vulnerable patients with intramural hematoma, important for management of these patients and optimization of their treatment in order to avoid complications.

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Anatomical and Surgical Basis for Adult Living Donor Liver Transplantation with the Right Liver Lobe

Borz C, Marian D, Bara T Jr, Jimborean O, Bara T, Márton D

Surgical Clinic 2, County Emergency Clinical hospital, Tîrgu Mureș, Romania

DOI: 10.2478/amma-2014-0028

Liver transplantation is now a standard procedure for the treatment of end stage liver diseases. Since 1968 until 2012, a number of 113,627 liver transplantations were performed in Europe, in 28 countries and 153 institutions. Despite these impressive figures the waiting list is growing every year. Transplant surgeons were preoccupied to find new ways to increase the donor pool. Among them: reduced size liver transplantation, split liver technique and more recently living donor liver transplantation. At first in the early `90, living donor liver transplantation was used for pediatric patients because the left lateral hepatic segments were harvested. This graft is too small for the metabolic demands of an adult patient. So the next step was the harvesting of the right liver lobe from the donor and transplantation to adult patients. Living donor liver transplantation has gained fast a wide acceptance but there are a few issues to discuss. The main concern is about the donor safety which is a healthy person undergoing major surgery with potential risks. Also the surgical technique evolved due to a better understanding of the anatomy and physiology of the liver and the right liver graft. We discuss here the anatomical and surgical basis for living donor liver transplantation with the right liver lobe.

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The Usefulness of White Light Endoscopy, Narrow Band Imaging, and Magnification for the Optimization of Diagnosis in Barrett’s Esophagus

Boeriu Alina1*, Brusnic Olga1, Onișor Danusia1, Pascarenco Ofelia1, Boeriu C2, Dobru Daniela1

1 Department of Gastroenterology, University of Medicine and Pharmacy Tirgu Mures, Romania
2 University of Medicine and Pharmacy Tirgu Mures, Tirgu Mures County Emergency Hospital, Tirgu Mures, Romania

DOI: 10.1515/amma-2015-0002

The diagnosis of dysplasia and early neoplasia in Barrett’s esophagus by conventional endoscopy is based on a four- quadrant random biopsies protocol that is prone to sampling errors. Novel endoscopic techniques have been developed to enhance the detection of premalignant and malignant lesions by real time assessment of microvasculare architecture and mucosal structure. Chromoendoscopy with magnification has improved the visualization of lesions, but the dye application impairs a clear evaluation of vascular network. Narrow band imaging endoscopy enhances vascular imaging by using narrow bandwidth lights, with penetration to superficial mucosal structures. Different classification systems of mucosal and vascular patterns have been developed to improve the diagnostic accuracy of non-dysplastic and dysplastic BE, as well as of early esophageal cancer. This article is focused on both the clinical benefits and controversies surrounding conventional and advanced endoscopic methods used for screening and surveillance of patients with Barrett’s esophagus. Current evidence shows that the adoption of new technology in routine practice requires a high level of performance as well as the standardization of various classification systems.

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