symptoms | Acta Medica Marisiensis

Epidemiological study on a Wilson disease group of patients

Isabela Raluca Musteață¹, Septimiu Toader Voidăzan², Mihaela Alexandra Budianu², Liviu Moraru³

1. Resident physician, family medicine, Heart Institute “Niculae Stancioiu”, Cluj Napoca
2. Department of Epidemiology, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Targu Mures, Romania
3. Department of Anatomy, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Targu Mures, Romania

DOI: 10.2478/amma-2025-0026

Wilson disease is a disorder of copper metabolism caused by genetic mutations in the ATP7B gene which lead to the accumulation of copper in the body. This study was conducted using an online questionnaire consisting of 32 questions in a group of patients suffering from Wilson disease. The study included 67 people aged 7 to 56 with Wilson disease. The most common symptoms of the participants were hepatic and neurological in 22 cases (32.8%). The most common neurological symptom in the assessed cases was muscle stiffness (49.5%), followed by tremor (45%), and speech disorders (40.5%). The Kayser-Fleischer ring was present in 50.7% of the participants. The most commonly used drug treatment in the participants was D-penicillamine (77.61%).

Clinical Presentation of Thyroid Nodules in Patients Submitted to Surgery

Cătană Ramona¹, Genes Ionela², Sala Tatiana³, Borda Angela⁴

1 Department of Endocrinology, County Emergency Clinical Hospital, Tîrgu Mureș, Romania
2 Department of Otorhinolaryngology, County Emergency Clinical Hospital, Tîrgu Mureș, Romania
3 Department of Surgery, County Emergency Clinical Hospital, Tîrgu Mureș, Romania
4 Department of Histology, University of Medicine and Pharmacy, Tîrgu Mureș, Romania

Background: Thyroid nodules can be discovered in the most varied circumstances. There are very few published data demonstrating the way in which thyroid nodules come to medical attention. This study aims to evaluate the clinical presentation of thyroid nodular disease, and to assess whether the presence of malignancy influences the presentation.
Methods: This paper is a prospective analysis of 164 patients diagnosed with thyroid nodular disease who underwent thyroid surgery in the two Departments of Surgery of the Tîrgu Mureş Emergency County Hospital. Face-to-face interviews were conducted to obtain data on how these patients with thyroid nodules come to medical attention. The patients were classified in the following categories: no symptoms and no signs; only symptoms, no signs; no symptoms, only signs (cervical tumor); symptoms and signs. The final pathological diagnoses of the thyroid resected specimens were obtained from database registries of the Department of Pathology.
Results: Most of the patients (64.01%) with thyroid nodular disease require a medical advice when they have cervical symptomatology, in the presence or not of a clinically apparent cervical tumor. 23.18% were patients in which the thyroid nodules were found incidentally by imaging tests performed for other purposes. The higher proportion of malignancy was recorded in patients with thyroid evident growth 52.38%.
Conclusion: The presence of a cervical tumor represents a clear invitation to a medical examination. The incidental discovery of thyroid nodules should not be overlooked. The cervical symptoms might have anything to do with the presence or with the size of thyroid nodules.