RESUMEN
AIMS: The aims of the presented case report are to emphasize the importance of a proper diagnostics and treatment in the case of the coexistence of Klinefelter syndrome (KS, 47 XXY) and complete androgen insensitivity syndrome (CAIS). Since there is no causal treatment it is necessary to provide the patient with a good quality of life, including psychological and sexological support. MATERIALS AND METHODS: The presented case report is the retrospective analysis of the patient's medical history over the 3 years. RESULTS: At the age of 15, the patient was directed to genetic testing due to primary amenorrhea. The results of the patient showed an incorrect male karyotype with the SRY gene present (47, XXY). A molecular diagnostics revealed a very rare variant of the androgen receptor (AR) mutation responsible for tissue insensitivity to androgens. The detected mutation has not been described in the available databases so far. Following a diagnosis of the presence of Klinefelter syndrome (KS, 47 XXY) together with complete androgen insensitivity syndrome (CAIS), the patient underwent a bilateral gonadectomy. CONCLUSIONS: In women with KS and CAIS physiological reproduction and maintenance of normal sex, hormone levels are not possible. A gonadectomy is performed due to the risk of malignant testicular tumors.
Asunto(s)
Síndrome de Resistencia Androgénica/diagnóstico , Síndrome de Klinefelter/diagnóstico , Adolescente , Amenorrea/diagnóstico , Amenorrea/etiología , Amenorrea/genética , Amenorrea/cirugía , Síndrome de Resistencia Androgénica/complicaciones , Síndrome de Resistencia Androgénica/genética , Síndrome de Resistencia Androgénica/cirugía , Castración , Femenino , Humanos , Cariotipificación , Síndrome de Klinefelter/complicaciones , Síndrome de Klinefelter/genética , Síndrome de Klinefelter/cirugía , Masculino , Mutación , Receptores Androgénicos/genética , Estudios Retrospectivos , Proteína de la Región Y Determinante del Sexo/genética , Testículo/cirugíaRESUMEN
AIM: The aim of the project was to evaluate the prevalence, motivation and effects of the use of substances to improve cognitive function by nursing students during examination. BACKGROUND: Exam periods are among the most stressful weeks of the academic year for nursing students. During these times, some students may use substances to support cognitive functions. Some of them are used despite their potential harmfulness, even by nursing students. DESIGN: This was a cross-sectional study. METHODS: The study was based on a voluntary, anonymous survey including 26 questions about use of various products belonging to food, dietary supplements, drugs, alcohol and tobacco. The study population was 221 students of nursing studying at Medical University of Warsaw. RESULTS: During the exam session, the most frequently used substance was strong tea. Dietary supplements are less popular. The surveyed students rarely use procognitive prescription drugs. However, consumption of alcohol, cigarettes or marijuana during the session was lower than outside of it declared by 61.5â¯%, 28.5â¯% and 6.3â¯% respectively (while outside of the exam session, 80.1â¯%, 29.0â¯% and 11.8â¯%, respectively). As for the purpose of using, most students mention improving concentration and memory, but most are not sure whether the products they use help them achieve their goals. Nearly two-thirds of students are aware of the harmfulness of stimulants and therefore do not use them and the products they do use are relatively safe for health. CONCLUSIONS: Most nursing students probably are aware of the harmfulness of listed products, especially belonging to prescription drugs, alcohol and stimulants and therefore do not use them. In turn, the products they use, such as chocolate or certain dietary supplements, are relatively safe for health, i.e. they do not cause dangerous addiction or side effects that may require seeking medical help. However, it is worrying that most of them regularly drink alcohol, many of them smoke tobacco and also use marijuana. The results do not indicate that a medical university and nursing vocational schools effectively promotes a healthy lifestyle for nursing students and changes in education in this area are necessary. A wide discussion on how to improve the health habits of future nurses should be taken.