Tag Archives: diagnosis

Identification and expression of microRNA-34a-3p and its target Rapamycin-insensitive companion of mTOR (RICTOR) in polycystic ovarian syndrome in South Indian population

Manya Saravanan1, Ameya K P2, Ashikha Shirin Usman P P2, Durairaj Sekar2

1. Saveetha Medical College and Hospital, Saveetha Institute of Medical and Technical Science (SIMATS), Saveetha University, Chennai, India
2. RNA Biology Lab, Saveetha Dental College and Hospital, Saveetha Institute of Medical And Technical Science (SIMATS), Saveetha University, Chennai, India

DOI: 10.2478/amma-2024-0025

Objectives: Polycystic Ovarian Syndrome (PCOS) is a complex condition affecting 4% to 26% of the world-wide population and is characterized by enlarged ovaries and cysts. These cysts are actually immature ovarian follicles that have failed to mature and release an egg, which is a process known as anovulation. This study aims to explore the potential of miRNA as therapeutic and diagnostic biomarkers for PCOS, focusing on the identification and expression analysis of novel candidates like miR-34a-3p and its target Rapamycin-insensitive companion of mTOR (RICTOR). The objective is to enhance our understanding of the molecular mechanisms associated with PCOS, particularly the roles of miRNAs in its pathogenesis. In future, we plan to test miR-34a-3p mimics/inhibitors and RICTOR downregulation to improve insulin sensitivity and ovarian function. We will also explore combined therapies and conduct trials to assess their efficacy and safety in PCOS patients, aiming to develop practical treatments for PCOS.
Methods: National Centre for Biotechnology Information (NCBI) database, TargetScan, and miRbase were explored to identify the novel miRNA candidates, resulting in the discovery of miR-34a-3p. Secondary structure was constructed using RNA Fold, and Ct and melt curve analysis assessed its statistical expression levels. Additionally, similar research was conducted to analyze the expression levels of RICTOR, a target of miR-34a-3p.
Result: The secondary structure showed miR-34a-3p has a minimum free energy of -47.20 kcal. Additionally shows dysregulation in both miR-34a-3p and RICTOR in individuals with PCOS. Furthermore, overexpression of RICTOR and decrease in miR-34a-3p levels suggest their possible role in the pathogenesis of PCOS.
Conclusion: In PCOS, miR-34a-3p is downregulated, and there’s an inverse relationship between miR-34a-3p and RICTOR levels. qRT-PCR results showed high RICTOR expression in PCOS patients. RICTOR plays a crucial role in the mTOR pathway, affecting insulin signaling, metabolism, and cellular growth, which are all implicated in PCOS.

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Renal Ewing sarcoma with extensive neuroectodermal differentiation: Case report and literature review

Alexandra Daniela Sava1, Tiberiu Bogdan Szekely1,2, Cornelia Togănel1,2, Adela Vacar1, Catalina Bungardean3, Simona Gurzu4,5,6

1. Department of Oncology, Clinical County Hospital, Targu Mures, Romania
2. Department of Oncology, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Targu Mures, Romania
3. Department of Pathology, Clinical City Hospital, Cluj Napoca, Romania
4. Department of Pathology, George Emil Palade University of Medicine, Pharmacy, Science and Technology, Targu Mures, Romania
5. Romanian Academy of Medical Sciences
6. Research Center for Oncopathology and Translational Medicine (CCOMT), George Emil Palade University of Medicine, Pharmacy, Science and Technology, Targu Mures, Romania

DOI: 10.2478/amma-2023-0034

Ewing sarcoma with renal localization is one of the rarest members of the Ewing sarcoma family with less than 200 cases reported in the Medline database. Considering the fact that the majority of data published on the Ewing sarcoma with neuroectodermal differentiation is obtained through a few case reports and case series, it becomes understandable why we currently have no universally accepted treatment regimens.
Case summary: A 33-year-old patient presented to the Emergency Department with right lumbar pain following a mild trauma and an episode of macroscopic hematuria. Physical examination confirmed hematuria and flank pain and a palpable flank mass was identified. MRI showed a cystic lesion of the upper pole of the right kidney of 127/110/123 mm. After prior agreement of the multidisciplinary team, a 3D laparoscopic right radical nephrectomy was done. The histopathological diagnosis revealed an Ewing sarcoma with extensive neuroectodermal differentiation staged as pT3N1M0L1V2R0. Despite swift implementation of the chemotherapy protocol, the progression of the disease was quickly noted. Currently, one year after diagnosis, the disease is still progressing despite the chemotherapy treatment, the patient being a third line chemotherapy candidate. As renal localization of Ewing sarcoma with extensive neuroectodermal differentiation is extremely rare, multimodal treatment strategies must be established by a multidisciplinary team. Despite its aggressive biological behavior, a proper therapeutic management might increase patient life expectancy.

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Advantages of lung ultrasound in triage, diagnosis and monitoring COVID-19 patients: review

Bianca Emilia Ciurba1, Hédi Katalin Sárközi1,2, István Adorján Szabó1,2, Nimród László1, Edith Simona Ianosi1,2, Maria Ianosi2, Gabriela Jimborean1,2

1. Mures County Clinical Hospital, Romania
2. George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Targu Mures, Romania

DOI: 10.2478/amma-2021-0019

Over the last decades, especially during the COVID-19 pandemic period, lung ultrasound (LUS) gained interest due to multiple advantages: radiation-free, repeatable, cost-effective, portable devices with a bedside approach. These advantages can help clinicians in triage, in positive diagnostic, stratification of disease forms according to severity and prognosis, evaluation of mechanically ventilated patients from Intensive Care Units, as well as monitoring the progress of COVID-19 lesions, thus reducing the health care contamination. LUS should be performed by standard protocol examination. The characteristic lesions from COVID-19 pneumonia are the abolished lung sliding, presence of multiple and coalescent B-lines, disruption and thickening of pleural line with subpleural consolidations. LUS is a useful method for post-COVID-19 lesions evaluation, highlight the remaining fibrotic lesions in some patients with moderate or severe forms of pneumonia.

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Diagnosis and Treatment Algorythm in Lyme Neuroborreliosis

Țilea Brîndușa1*, Bălașa Rodica1, Fodor Andrea1, Țilea Ioan1

1 University of Medicine and Pharmacy, Tîrgu Mureș, Romania

DOI: 10.1515/amma-2015-0125

Lyme neuroborreliosis is an infection of the nervous system caused by spirochetes of the Borrelia burgdorferi sensulato group. Neurological clinical manifestations usually present a steady evolution and are different in patients from Europe compared to those from America, possibly due to vector agents and different bacterial species. Various diagnostic markers were studied in consideration of a clear or possible diagnosis of the disease, because evolution and complications depend on early diagnosis and initiation of therapy. The isolation of the bacterium is difficult, microscopic examination and the bacterial dezoxiribonucleic acid amplification shows low sensitivity. However, the diagnosis of Lyme neuroborreliosis is mainly based on serological methods that have a satisfactory sensitivity and specificity. A correct diagnosis can be performed by strictly respecting clinical guidelines and protocols and carefully interpreting the serological tests. The presence of anti-borrelia burgdorferi antibodies in the cerebrospinal fluid with evidence of intrathecal antibody production is the gold standard diagnosis of Lyme neuroborreliosis. Early administration of antibiotic treatment (third generation cephalosporins, cyclins, aminopenicillins) can produce the remission of neurological symptoms, the eradication of spirochetes in acute phase of the disease, thus avoiding the development of the chronic disease.

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Multidisciplinary Approach of Breast Cancer. Case Reports

Podeanu Daniela1, Stolnicu Simona2, Georgescu R3, Treaba Andrada1, Șincu Nina-Ioana4, Copotoiu C5, Brînzaniuc Klara6

1 Department of Radiology and Medical Imaging, University of Medicine and Pharmacy, Tîrgu Mureș, Romania
2 Department of Pathology, University of Medicine and Pharmacy, Tîrgu Mureș, Romania
3 Surgery Clinic III, Faculty of Medicine, University of Medicine and Pharmacy, Tîrgu Mureș, Romania
4 Clinic of Infectious Diseases I, Faculty of Medicine, University of Medicine and Pharmacy, Tîrgu Mureș, Romania
5 Surgery Clinic I, Faculty of Medicine, University of Medicine and Pharmacy, Tîrgu Mureș, Romania
6 Department of Anatomy, Faculty of Medicine, University of Medicine and Pharmacy, Tîrgu Mureș, Romania

Introduction: Breast cancer is still the world’s most common cancer in women. Multidisciplinary approach represents the gold standard in diagnosis.
Case presentation: In order to emphasize the importance of this issue, we present three of our cases. In these cases of invasive carcinoma, in women ranged from 42 to 54 years, the diagnosis tools were clinical examination, mammography, ultrasound and histopathology. Minimal invasive breast biopsy and preoperative localisation procedures, under ultrasound and stereotactic guidance contributed to preoperative planning.
Conclusions: Interdisciplinary approach in diagnosis provides optimal management of breast cancer.

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Lyme Neuroborreliosis – A Retrospective Study

Țilea Brîndușa1, Țilea I2, Brînzaniuc Klara3, Georgescu Anca1, Gîrbovan Cristina1

1 1st Clinic of Infectious Diseases, Faculty of Medicine, University of Medicine and Pharmacy, Tîrgu Mureș, Romania
2 Internal Medicine III, Faculty of Medicine, University of Medicine and Pharmacy, Tîrgu Mureș, Romania
3 Anatomy and Human Embriology Department, Faculty of Medicine, University of Medicine and Pharmacy, Tîrgu Mureș, Romania

Background: Lyme Neuroborreliosis represents the acute or chronic infection of the central nervous system (CNS) and peripheric nervous system (PNS), as a consequence of a systemic infection.
Objectives: to evaluate the epidemiological, clinical, serological and post-therapeutic implications of CNS and PNS damage during Borrelia burgdorferi (Bb) infection.
Material and method: We performed a retrospective study on 23 patients admitted between January 1st, 2009 – December 31, 2010. The patient’s inclusion was made respecting the criteria of the European Center for Diseases Control (ECDC) and the European Union Concerted Action on Lyme Borreliosis (EUCALB). The levels of antiBb antibodies (IgM, IgG) were measured in the cerebro-spinal fluid (CSF) and in the serum using ELISA and Western blot methods. Imaging techniques were used in the case of patients with meningeal and cerebral lesions. The patients were treated with 3rd generation cephalosporins and cyclins. Statistical analysis was performed using the Chi square and Student tests.
Results: Twenty patients (86.96%) were included in the acute phase and 3 patients (13.04%) in the chronic phase of the disease. Meningeal damage was observed in 16 patients (69.56%), cerebral damage in 4 patients (17.39%), cranial nerve lesions in 2 patients (8.69%), radiculoneuritis in 1 patient (4.34%). Serological investigations using the ELISA method revealed the presence of antiBb antibodies in 100% of cases, in the CSF antiBb IgM antibodies were found in 18 patients (78.26%), IgG in 3 patients (13.04%); using the Western-blot method IgM antibodies were found in 20 patients (86.96%) and IgG in 3 patients (13.04%).
Conclusions: Early diagnosis and therapy led to a favorable evolution compared with patients who were treated late, the latter presenting neurological sequelae and relapses.

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Heterozygous Beta-thalassemia, a Genetic Haemolytic Anaemia in Continuous Expansion

Șeicaru D1, Constantinescu Dorina2, Frecus Corina3, Bulucea D4

1 Family medicine physician, University of Medicine and Pharmacy, Craiova, Romania
2 Department of Pediatrics, County Emergency Hospital Râmnicu Vâlcea, University of Medicine and Pharmacy, Craiova, Romania
3 Department of Pediatrics, University of Medicine and Pharmacy, Constanța, Romania
4 University of Medicine and Pharmacy, Craiova, Romania

DOI: 10.2478/amma-2013-0036

Introduction: Heterozygous β-thalassemia represents the mild form of the β-thalassemic syndromes, being compatible with normal lifetime. The importance of β-thalassemia consists in the fact that it maintains the “defective gene” in the population, favoring the appearance of new cases of Cooley’s anaemia, the severe form of β-thalassemic syndromes. Current data estimate that 7% of the world’s population is bearing β-thalassemia, over 400,000 children with β-thalassemia being born annually, therefore the WHO estimates the doubling of this figure in the coming years.
Material and methods: We carried out a retrospective clinical study of over 450 cases diagnosed with β-thalassemia in the Dolj, Constanța and Vâlcea counties, along a period of 10 years (2001–2010), out of which we analyzed the family tree of 10 cases throughout 3–4 generations, starting from the cases of children diagnosed with β-thalassemia.
Results: The number of heterozygous subjects that emerged over 3–4 generations was of 60 cases with β-thalassemia and 9 cases with Cooley’s anaemia. Thus, starting from the 10 cases of β-thalassemic married subjects (great grandfathers/great grandmothers, grandfathers/grandmothers) along 3–4 generations (over a period of 70–80 years) the number of new β-thalassemia cases was 5.4 times higher.
Conclusions: According to our results, the last generation of the studied children and adolescents shows the presence of a total of 18 subjects with β-thalassemia, suggesting the increasing amount of heterozygotes in the population.

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The Therapeutic Management of Retroperitoneal Injuries

Crăciun C1, Azamfirei L2, Coroș MF1, Hintea A1, Cozma D1, Sorlea S1, Dobre A1 

1 Surgical Clinic 1, County Emergency Clinical Hospital, Tîrgu Mureș, Romania
2 ICU Clinic 1, County Emergency Clinical Hospital, Tîrgu Mureș, Romania

DOI: 10.2478/amma-2013-0032

Background: In the retro peritoneum different organs of various origins (vascular, nervous, muscular, fascia, etc.) are located. These represent the source of different surgical conditions that cause, even today, serious problems of early diagnosis and treatment.
Material and method: We have conducted a retrospective study throughout a period of 8 years (2004–2011). We followed the incidence, the treatment and the evolution of several types of retroperitoneal lesions.
Results: In this period 79 cases of retroperitoneal conditions were encountered, representing 0.51% from the total of 15,284 patients admitted and treated within our clinic. The most common cases were those of tumour conditions and retroperitoneal primitive tumours (RPT). Many inflammatory conditions were also encountered. There were a few cases of retroperitoneal overflows or of parasitic diseases and we did not encounter cases of retroperitoneal fibrosis or malacoplaky.
Conclusions: In our study the majority of the retroperitoneal conditions were of tumour nature, especially malignant RPTs. Secondary retroperitoneal tumours (adenopathies, metastases, relapses) were less frequent. The excision of the retroperitoneal tumours is delicate, especially due to the vascular factor caused by anatomical conditions and their own vascularisation. On well-chosen cases we can use minimally invasive surgical techniques (laparoscope, punctures and eco-guided drainages), which enable a favorable post-operative evolution.

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