Medicina
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Background and Objectives: Minimally invasive cardiac surgery (MICS) has been developing since 1996. Peripheral cannulation is required to perform MICS, and good venous drainage and a bloodless field are crucial for the success of this procedure. We assessed the benefits of using a virtually wall-less cannula in comparison with the standard thin-wall cannula in clinical practice. ⋯ However, in all the patients, the estimated target flow was achieved, thereby showing the better hemodynamic performance of the virtually wall-less cannula, since, in this group, the patients' BSA was significantly greater compared to the thin-wall group. Ultimately, the mean cross-clamp time, as an indirect index of the effectiveness of the venous drainage, is shorter in the virtually wall-less group compared with the thin-wall group. Conclusions: The virtually wall-less cannula should be preferred in minimally invasive mitral valve surgery due to its superior performance in terms of venous drainage compared with the standard thin-wall cannula.
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Background and Objectives: Heterozygous pathogenic variants in the MED13L gene cause impaired intellectual development and distinctive facial features with or without cardiac defects (MIM #616789). This complex neurodevelopmental disorder is characterised by various phenotypic features, including plagiocephaly, strabismus, clubfoot, poor speech, and developmental delay. The aim of this study was to evaluate the clinical significance and consequences of a novel heterozygous intragenic MED13L deletion in a proband with clinical features of a MED13L-related disorder through extensive clinical, molecular, and functional characterisation. ⋯ In silico, the deletion was predicted to result in a truncated protein NP_056150.1:p.(Val104Glyfs*5), partly altering the Med13_N domain and losing the MedPIWI and Med13_C domains. After MED13L gene editing was performed, reduced cell viability; an accelerated aging process; and inhibition of the RB1, E2F1, and CCNC gene expression were found to exist. Conclusions: Based on these findings, heterozygous intragenic 12q24.21 deletion in the affected individual resulted in MED13L haploinsufficiency due to the premature termination of protein translation, therefore leading to MED13L haploinsufficiency syndrome.
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Background and Objectives: The peak of incidence of testicular cancer (TC) occurs among individuals in their reproductive age, emphasizing the importance of fertility preservation as an integral aspect of disease management. Sperm cryopreservation performed before orchiectomy is ineffective in azoospermic men, necessitating alternative approaches such as microdissection testicular sperm extraction (mTESE) at the time of orchiectomy (onco-mTESE) to obtain viable sperm. This study presents the findings from our institution's experience with onco-mTESE and critically discusses our results in light of the existing body of literature. ⋯ Among the three patients with successful sperm retrieval, an intracytoplasmic sperm injection (ICSI) was performed in two patients, resulting in two pregnancies, leading to one healthy live birth and one miscarriage. Conclusions: In the context of TC, it is essential to conduct a thorough evaluation of testicular function, including a semen analysis and cryopreservation. Onco-mTESE has proven its safety in preserving fertility in azoospermic cases while ensuring the efficacy of oncological treatment.
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Observational Study
New Assessment Tool-Postpartum Functional Assessment Questionnaire.
Background and Objectives: Functional status of the mother after delivery is crucial for performing activities of daily living and caring for the newborn. It is important to assess functional abilities after childbirth in order to improve the quality of postpartum care. The aim of this study is to determine the psychometric properties of the questionnaire and assess the functional abilities after childbirth. ⋯ All between-group differences in pain intensity and functional abilities were highly statistically significant (p < 0.001). Differences between the first and third postpartum day were statistically significant for all variables and all subgroups (p < 0.001). Conclusions: Postpartum Functional Assessment Questionnaire has good psychometric properties and is a valuable tool for use in clinical practice.
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The management of locally advanced rectal cancer (LARC) suffered changes thanks to the development of improved surgical procedures, radiation delivery, and chemotherapy. Although treatment options improved individually, the optimal order is still debated. Neoadjuvant chemo-radiotherapy followed by total mesorectal excision (TME) has been the "golden standard" for locally advanced rectal cancer. ⋯ A strong positive correlation was found between ADJCHT and the presence of at least one risk factor: (y)pT > 2, (y)pN > 0, PNI+, lymphovascular invasion, positive margins, or tumor grade > 1. Tumor downstaging decreased the risk of metastases in the first 2 years and was associated with the use of neoadjuvant radiotherapy, while adding neoadjuvant chemotherapy increased the chance of nodal downstaging. ADJCHT practice for LARC in Romania follows either NCCN or ESMO guidelines, at the discretion of the oncologist, due to the lack of national guideline.