Medicina
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Review
Developmental Dysplasia of the Hip: A Review of Etiopathogenesis, Risk Factors, and Genetic Aspects.
As one of the most frequent skeletal anomalies, developmental dysplasia of the hip (DDH) is characterized by a considerable range of pathology, from minor laxity of ligaments in the hip joint to complete luxation. Multifactorial etiology, of which the candidate genes have been studied the most, poses a challenge in understanding this disorder. ⋯ Recent studies show that epigenetic factors, such as DNA methylation affect gene expression and therefore could play an important role in DDH pathogenesis. This paper reviews all existing risk factors affecting DDH incidence, along with candidate genes associated with genetic or epigenetic etiology of DDH in various studies.
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An Intergenic rs9275596 Polymorphism on Chr. 6p21 Is Associated with Multiple Sclerosis in Latvians.
Background and objectives: Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system, leading to demyelination of neurons and potentially debilitating physical and mental symptoms. The disease is more prevalent in women than in men. The major histocompatibility complex (MHC) region has been identified as a major genetic determinant for autoimmune diseases, and its role in some neurological disorders including MS was evaluated. ⋯ Functional significance of allele substitutions was evaluated on the eventual sequence affinity to transcription factors (TFs) and splicing signals similarity. A possible impact of the particular polymorphisms on the transcription and splicing efficiency is discussed. Conclusions: Our results suggest susceptibility of rs9275596 to multiple sclerosis in Latvians.
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Case Reports
Early Radiation-Induced Sarcoma in an Adolescent Treated for Relapsed Hodgkin Lymphoma with Nivolumab.
Radiation-induced sarcoma (RIS) has been reported as a late secondary malignancy following radiotherapy for various types of cancer with a median latency of 10 years. We describe an early RIS that developed in an adolescent within three years of treatment (including PD-L1 check-point inhibitor Nivolumab) of a relapsed classic Hodgkin lymphoma (HL) and was diagnosed post-mortem. The patient died of the progressive RIS that was misleadingly assumed to be a resistant HL based on the positive PET/CT scan. Repetitive tumor biopsies are warranted in cases of aggressive and multi-drug resistant HL to validate imaging findings, ensure correct diagnosis and avoid overtreatment.
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Review Case Reports
Synchronous Cervical Adenocarcinoma and Ovarian Serous Adenocarcinoma-A Case Report and Literature Review.
Background/Aim: Synchronous gynecological malignancies are rarely encountered, and most often these cases are represented by synchronous ovarian and endometrial cancer. The aim of this paper is to present the case of a 53-year-old patient who was diagnosed with synchronous cervical and ovarian cancer. Case presentation: The patient had been initially investigated for vaginal bleeding and was submitted to a biopsy confirming the presence of a cervical adenocarcinoma. ⋯ Total radical hysterectomy with bilateral adnexectomy, pelvic and para-aortic lymph node dissection, omentectomy, and pelvic peritonectomy was performed; in the meantime, the histopathological studies confirmed the presence of two synchronous malignancies. Conclusion: Although synchronous lesions are rarely encountered, this eventuality should not be omitted. In such cases, surgery should be taken in consideration and the intent of radicality should regard both lesions.
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Background and objectives: Aquatic exercises have demonstrated several advantages over land-based exercise, but only a few studies have compared the workout intensities and efficiencies in a stage-specific manner. This study aimed to investigate workout intensity during aquatic and land-based running, based on the rating of perceived exertion (RPE). Materials and Methods: Twenty healthy young male subjects underwent a land-based running test (LRT) and an aquatic running test (ART), in the form of a cardiopulmonary exercise treadmill test and a shallow-water running test. ⋯ Conclusions: In aquatic exercises based on the RPE obtained from the LRT, HR exhibited a linear relationship in both the ART and the LRT. The ART appears to increase cardiac loading more efficiently in the initial period and does not increase cardiac loading abruptly at a later period. Although there is no precise, objective, controlled parameter to compare the ART and the LRT, the RPE may be used as a convenient measurement for workout intensity in aquatic running.