Tag Archives: screening

Current screening and diagnostic approaches of
retinoblastoma in limited setting

DOI: 10.2478/amma-2023-0032

As the most common intraocular malignancy in children, retinoblastoma poses a vision, globe, and life-threatening risk and hence requires thorough evaluation and surveillance. While the disease is one of the most curable malignancies in established countries, children of lower-middle-income countries are not so fortunate, especially those with familial history of retinoblastoma. The delay of diagnosis proposes a grave prognosis, thus screening is a must. This study aimed to review the literature on various screening programs and applications described for the early detection of retinoblastoma, especially in a setting where genetic examination performance is limited. A literature search across PubMed®, ProQuest, and EbscoHost (MEDLINE Full text) with the topic of current methods and programs of retinoblastoma screening in neonates, infants, and children were carried out denoting various guideline and recommendations but the implementation is not uniform. Examination under anesthesia and red-reflex tests are among the most frequently conducted but the practices vastly vary especially in a place with low resources. Recent updates in mobile phone freeware should be rigorously upgraded due to its current inadequate sensitivity and specificity in detecting retinoblastoma but pose a promising future for retinoblastoma screening and diagnosis, especially in lower-middle-income countries.

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Detection of serum telomerase and fibronectin as precursor markers of cervix cancer in patients with a positive Pap test

DOI: 10.2478/amma-2023-0021

Introduction: Cervical cancer is a type of cancer that appears in cervical cells, in the lower part of the uterus, being characterized by the proliferation of atypical cancerous cells, which can spread rapidly, representing a serious disease, with significant medical and social impact among affected individuals, and a severe evolution particularly when detected in advanced stages. The aim of this study was to evaluate the alterations found in cervical cells, caused by persistent HPV infection, using inflammatory protein biomarkers such as fibronectin and telomerase.
Material and method: This study included a total of 169 women, both asymptomatic and symptomatic, aged between 30 and 64 years. Those women underwent routine gynecological consultations or were referred to a gynecologist because of their symptoms. After selecting the patients, a Pap test and blood samples (5 ml) were taken. Using a questionnaire, information regarding sexual characteristics and behaviors, as well as personal medical history, were collected.
Results: The median value for telomerase was 0.1 ng/ml, with a minimum of 0.01 ng/ml and a maximum of 30.09 ng/ml. Based on the telomerase results, 66 (39.1%) patients had positive results (more than 0.215 units) and 103 (60.9%) had negative results. The median value for fibronectin was 3.72 ng/ml with a minimum of 0.55 ng/ml and a maximum of 89.9 ng/ml. Of all women included in the study, 36 (21.3%) had positive results (more than 10 ng/ml), and 133 (78.7%) had negative results. Also, 15.2% of patients with positive telomerase and 16.7% with positive fibronectin presented Atypical Squamous Cells of Undetermined Significance. Mature squamous metaplasia and inflammatory cells have been identified among positive and negative results of fibronectin and telomerase.
Conclusions: Positive and negative results for fibronectin and telomerase were similar in correlation with cytological results and information about HPV infection or sexual practices/characteristics were similar.

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The importance of early diagnosis and surveillance in Peutz-Jeghers Syndrome: A case report

DOI: 10.2478/amma-2023-0017

Introduction: Peutz-Jeghers syndrome is a rare autosomal dominant inherited disorder characterized by hamartomatous intestinal polyps and mucocutaneous pigmentation. Most cases appear to be linked to the mutation of the STK11 gene. Patients are at a lifetime risk of gastrointestinal and non-gastrointestinal cancers.
Case Presentation: The present study offers the case of this rare disorder in a young woman revealed by jejunal obstruction caused by intussusception. A 32-year-old woman was referred to the surgical department with symptoms suggestive of an obstructive syndrome. On examination, there were multiple perioral pigmented lesions. An urgent exploratory laparotomy revealed bowel obstruction caused by an intussusception with a large polyp. The patient suffered another similar episode 4 years before leading to the diagnosis of Peutz-Jeghers Syndrome, however she was under no surveillance. Patients with pigmented lesions and a family member suffering from the mentioned syndrome should perform endoscopy and genetic tests to diagnose early and avoid complications.
Conclusion: Peutz-Jeghers Syndrome is difficult to treat due to its nonspecific symptomatology and late diagnosis. Life-threatening complications such as intussusception and various types of cancer are unanticipated. It is vital to diagnose and perform routine screening, which will make it possible to prolong the survival of many patients.

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Screening the Presence of Amflora Transgenic Potato in Food or Feed Products

DOI: 10.1515/amma-2016-0051

Objective. Amflora potato, event EH92-527-1 was genetically modified to produce only the amylopectin component from starch composition. The presence of the transgenic potato in the food on Romanian market should be verified although the Amflora potato uses for industrial purposes and animal feed. The aim of this study was to detect the presence of the Amflora potato in the food or feed products.
Methods. For this purpose, five samples of potato tubers and four samples of chips were analyzed. DNA isolation was performed with E.Z.N.A. ® MicroElute Genomic DNA kit (Omega Bio-Tek, USA). For identification a potential presence of the recombinant DNA in the food samples it was used GMOIdent RT Event EH92-527-1 Potato kit (Eurofins GeneScan, Germany), that is a real-time PCR kit for qualitative event-specific detection of AmfloraTM EH92-527-1 potato.
Results. Amflora transgenic potato was not detected in any of analyzed samples.
Conclusions. The results of real-time PCR method confirm the absence of Amflora event EH92-527-1 in all potato tubers and chips analyzed samples.

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The Role of Smoking in the Development of Colorectal Cancer

DOI: 10.1515/amma-2016-0046

Introduction. Smoking is an important public health issue nowadays. It causes a lot of diseases and represents also a source of carcinogenic substances. Recent studies showed an increased incidence of colorectal cancer in smokers. The aim of our study is to assess the association between smoking and colorectal cancer and to establish the prevalence of heavy smokers among the patients operated on for colorectal cancer.
Methodology. We run a retrospective study of the charts belonging to the patients diagnosed with colorectal cancer and operated on in our department between 2004 and 2013. The patients were classified in smokers, former smokers and nonsmokers. The amount of tobacco was evaluated according to the number of smoked cigarettes per day, the smoking period, respectively the pack-years. The data were corroborated with the location of the tumor and analyzed using the online version of Graphpad.
Results. From 982 patients diagnosed with colorectal cancer, we found 297 smokers (30.24%). Among these, 106 patients (35.69%) have smoked for over 30 years, at least 20 cigarettes per day, more than 30 pack-years. The number of heavy smokers was significantly greater (p=0.0001) in the group with rectal cancer compared to the group with colon cancer. The association of smoking with rectal cancer was also important (p=0.0015) among the former smokers.
Conclusions. Smoking is related to higher incidence of colorectal cancer. Our data sustain the hypothesis of increased risk of developing rectal cancer in heavy smokers. We recommend the screening for colorectal cancer among the heavy smoker population.

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