Medicina
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Case Reports
Whole Exome Sequencing of a Patient with a Milder Phenotype of Xeroderma Pigmentosum Group C.
A 17-year-old female Korean patient (XP115KO) was previously diagnosed with Xeroderma pigmentosum group C (XPC) by Direct Sanger sequencing, which revealed a homozygous nonsense mutation in the XPC gene (rs121965088: c.1735C > T, p. Arg579Ter). While rs121965088 is associated with a poor prognosis, our patient presented with a milder phenotype. ⋯ The rs2279017 and rs2607775 of XPC involved mutations in the intron region, which affected RNA splicing and protein translation. The genetic variants of AFF3, TARP, and ANXA7 are all frameshift or missense mutations, inevitably disturbing the translation and function of the resultant proteins. Further research on their functions in DNA repair pathways may reveal undiscovered cellular relationships within xeroderma pigmentosum.
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Previous studies on saccharin and cyclamate were either limited to experimental animals or lacked evaluation of their long-term consumption effects in humans. ⋯ Consumption of saccharin and cyclamate affected biochemical parameters related to metabolic functions in a time and dose-dependent manner and appear to increase oxidative stress in healthy and diabetic type 2 patients.
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Review
The Role of Gene Expression in Stress Urinary Incontinence: An Integrative Review of Evidence.
Stress urinary incontinence (SUI) is defined as unintentional urine leakage occurring as a consequence of increased intraabdominal pressure due to absent or weak musculus detrusor contractility. It affects postmenopausal women more often than premenopausal and is associated with quality of life (QoL) deterioration. The complex SUI etiology is generally perceived as multifactorial; however, the overall impact of environmental and genetic influences is deficiently understood. ⋯ In order to facilitate the interpretation of the results, we have used GeneMania, a potent software which describes genetic expression, co-expression, co-localization, and protein domain similarity. The importance of this review on the genetic pathophysiology of SUI lies in determining susceptibility for targeted genetic therapy, detecting clinical biomarkers, and other possible therapeutic advances. The prevention of SUI with the timely recognition of genetic factors may be important for avoiding invasive operative urogynecological methods.
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Trophoblastic tissue reimplantation after laparoscopic salpingectomy is a very rare complication. These cases may present a diagnostic challenge and the majority of patients need a surgical treatment. ⋯ In cases of a nondisseminated trophoblastic tissue reimplantation, consider embolization and treatment with methotrexate if the patient is hemodynamically stable; thus, secondary surgical treatment is preventable.
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Background and Objectives: Prostate cancer is on the rise in the European Union, and radiofrequency ablation (RFA) is one of the minimally invasive treatment options used for its treatment. Therefore, the aim of this study was to investigate and analyze the effects of RFA on prostate tissues. Materials and Methods: A standard prostate RFA procedure was performed on 13 non-purebred dogs in three sessions: no cooling (NC), cooling with a 0.1% NaCl solution (C.01), and cooling using a 0.9% NaCl solution (C.09). ⋯ Conclusions: Prostate RFA leads to tissue damage with distinct morphological zones. Notably, the prostate lesions were the smallest and the most regular in shape after RFA procedures using the 0.1% NaCl cooling solution. It can be argued that smaller ablation sites may result in smaller scars, thus allowing for faster tissue healing if the blood flow and innervation at the ablation site are not compromised.