Medicina
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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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COVID-19 infection often produces cardiovascular complications, which can range from mild to severe and influence the overall prognosis. Imaging is the cornerstone for diagnosing initial COVID-19 cardiovascular involvement as well as treatment guidance. In this review, we present the current state of the literature on this subject while also emphasizing possible algorithms for indicating and executing these investigations.
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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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Background and Objectives: The purpose was to compaSre medium-term clinical and radiological outcomes of Partial Pediculotomy, Partial Vertebrotomy (PPPV) Posterior Endoscopic Cervical Decompression (PECD) surgery versus Anterior Cervical Discectomy and Fusion (ACDF) for patients with cervical disc herniations and foraminal pathologies. Materials and Methods: A prospective registry of patients who had undergone either PPPV PECD surgery or ACDF surgery for cervical disc herniation or foraminal pathologies under a single fellowship-trained spine surgeon was performed. The baseline characteristics and operative details including complications were recorded for all included patients. ⋯ At neutral alignment of the neck on a lateral X-ray, compared to ACDF, PPPV PECD had a statistically significant change in neck tilt angle (-11.68 ± 17.35°) and T1 slope angle (-11.69 ± 19.58°). Whilst both PPPV PECD and ACDF had significant improvements in VAS, MJOA and NDI postoperatively, PPPV PECD was found to be superior across all above scores at various follow-up timepoints compared to its ACDF counterparts. Conclusions: PPPV PECD surgery achieved a satisfactory radiological correction of neck alignment and significantly improved clinical outcomes at medium-term follow-up for our cohort of patients, highlighting its feasibility in treating patients with cervical disc herniations and foraminal pathologies.