RESUMEN
INTRODUCTION: Donohue syndrome (DS), also referred to as leprechaunism, is a remarkably uncommon autosomal recessive disorder that primarily affects the endocrine system. Its incidence rate is exceedingly low, with only 1 case reported per 4 million live births. The syndrome is distinguished by a series of characteristic clinical features. CASE PRESENTATION: We present a case of a twenty-month-old male with DS who experienced a range of dysmorphic and clinical features with the involvement of multiple systems. These features include skin hyperpigmentation, hypertrichosis, distinct facial features, abdominal distension, and microcephaly, with the involvement of the endocrine, renal, respiratory, and cardiac systems. CONCLUSION: The primary features of DS involve severe insulin resistance and growth abnormalities, the association with pulmonary hypertension (PHTN) has not been reported before. This finding adds more complexity to the condition. To the best of the author's knowledge, this is the first report for a patient with DS who has PHTN. Further investigation is required since the mechanisms behind the development of PHTN in DS are not entirely understood. Shedding light on this association will contribute to better management strategies and outcomes for affected patients.
Asunto(s)
Síndrome de Donohue , Hipertensión Pulmonar , Humanos , Masculino , Hipertensión Pulmonar/etiología , Hipertensión Pulmonar/diagnóstico , Lactante , Síndrome de Donohue/complicaciones , Síndrome de Donohue/diagnósticoRESUMEN
Background and Aims: The present study aims to shed light on the knowledge, attitude, and practice of breast self-examination with breast cancer (BC) among female patients in the oncology department of Baghdad Medical City. Methods: This cross-sectional study involved 100 female participants at the Oncology Teaching Hospital in Baghdad Medical City between June 15 and October 15, 2022. Using convenient sampling, the study targeted females aged 30-75, recently or previously diagnosed with BC, admitted for treatment and follow-ups. Results: Regarding the assessment of knowledge, among the surveyed patients, 71 are aware of breast self-examination (BSE), primarily through social media (42 patients). The study also explores the link between BSE and education levels. While Pearson's chi-square shows no significance (0.107), the likelihood ratio suggests a significant association (0.041). Regarding the analysis of attitudes, the study assessment for the reasons for compliance showed that 19 patients cite medical reasons, and 48 patients attribute noncompliance to a lack of knowledge of how to perform BSE. Regarding the examination of practice, high statistical significance is evident in both Pearson's chi-square (0.000) and likelihood ratio (0.000) tests, emphasizing the substantial relationship between the post-diagnosis initiation timing of BSE and its correct execution. Additionally, a statistically significant association exists between performing BSE correctly and discovering BC (p = 0.000). Conclusion: Regarding the assessment of knowledge, our study found high awareness of BSE within the population, primarily through social media and health organizations. Regarding the analysis of attitudes, a notable proportion refrained from practicing BSE, primarily due to a perceived lack of knowledge about the methods. Regarding the examination of practice, the observed significant associations between performing BSE correctly, discovering BC, and the frequency of examinations underscore the pivotal role of consistent and accurate BSE in early detection.
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Renal fibrosis is an important marker in the progression of chronic kidney disease, and renal biopsy is the current reference standard for detecting its presence. Currently, non-invasive methods have only been partially successful in detecting renal fibrosis. Magnetization transfer imaging (MTI) allows estimates of renal fibrosis but may vary with scanning conditions. We hypothesized that MTI-derived renal fibrosis would be reproducible at 1.5T and 3T MRI and over time in fibrotic kidneys. Fifteen pigs with unilateral renal artery stenosis (RAS, n = 9) or age-matched sham controls (n = 6) underwent MTI-MRI at both 1.5T and 3T 6 weeks post-surgery and again 4 weeks later. Magnetization transfer ratio (MTR) measurements of fibrosis in both kidneys were compared between 1.5T and 3T, and the reproducibility of MTI at the two timepoints was evaluated at 1.5T and 3T. MTR at 3T with 600 Hz offset frequency successfully distinguished between normal, stenotic, and contralateral kidneys. There was excellent reproducibility of MTI at 1.5T and 3T over the two timepoints and no significant differences between MTR measurements at 1.5T and 3T. Therefore, MTI is a highly reproducible technique which is sensitive to detect changes in fibrotic compared to normal kidneys in the RAS porcine model at 3T.