RESUMEN
Current advances in cancer therapy have increased survival, emphasizing the need for life quality improvement. Fertility loss is common post-chemotherapy. Current guidelines establish embryo and oocyte cryopreservation to address premature ovarian insufficiency (POI). Ovarian tissue cryopreservation has also recently become an acceptable option for fertility preservation, particularly as it is the only option for pre-pubertal patients. Few definitions for optimum fertility outcomes, and few systematic reviews comparing embryo, oocyte, and ovarian tissue cryopreservation as a means of fertility preservation (FP) in pre- and post-pubertal female cancer patients exist. This systematic review aims to improve understanding of gonadotoxic effects of chemoradiation therapy in cancer patients, to analyze the different fertility preservation techniques and procedures available to women with chemoradiation induced ovarian insufficiency, and to compare and recognize the benefits of each technique in restoring fertility, sexual hormone function, and quality of life. Searches were conducted electronically on PubMed, Cochrane, and EBSCOHost, including clinical trials, prospective, and retrospective studies of female cancer patients undergoing anti-cancer therapy, with predefined MeSH terminology. Data were collected, analyzed, and compared. Non-randomized clinical studies were evaluated for risk bias through the Newcastle-Ottawa Scale. In total, 23 studies were included. From there, 647 patients opted for oocyte cryopreservation, 267 for embryo cryopreservation, and 1382 for ovarian tissue cryopreservation (OTC). A total of 175, 18, and 121 live births resulted respectively from oocyte, embryo, and OTC, respectively. Studies without live births discussed other fertility markers as indicators of improvement in sexual hormone function and fertility. The gonadotoxic effects of chemotherapy call for FP intervention. Oocyte and embryo cryopreservation/implantation are well-established procedures. With changing trends and life quality consideration, OTC is a promising interventional method for pre-pubertal patients facing the prospect of fertility loss.
RESUMEN
Objective: We conduct a secondary analysis on the demographics, tumor characteristics, survival, and risk factors for mortality among patients with prostatic ductal adenocarcinoma (PDA) in the Kingdom of Saudi Arabia (KSA). Methods: This is a registry-based retrospective study that included all patients diagnosed with prostate cancer in the KSA. The data were collected from the Saudi Cancer Registry, which collects tumor data from all private, military, and health ministry hospitals in Saudi Arabia through five regional offices. Results: Among 3607 prostate cancer patients detected during the specified period, 209 (5.8%) had ductal adenocarcinoma. The median interquartile range age of patients was 72.0 years (64.0-78.0). Adenocarcinoma lesions were malignant among all the patients. Grade III tumors were most frequently apparent lesions (61.2%), followed by Grade II tumors (26.3%), Grade I tumors (7.2%), and Grade VI tumors (5.3%). A total of 33 patients died, representing 15.8% of the whole sample. The 1-year survival rate was 78.1%. More than a third of patients who were residing in the Western region deceased (38.0%), whereas no deaths were reported in other regions with a statistically significant difference based on regions (P < 0.001). Conclusion: To the best of our knowledge, this is the first registry-based study to investigate PDA in the KSA; these efforts were done to further understand this deadly condition and to further enhance patient care in the KSA.
RESUMEN
(1) Background: Mutations in NFκB1, a transcriptional regulator of immunomodulating proteins, are a known cause of inborn errors of immunity. Our proband is a 22-year-old male with a diagnosis of common variable immunodeficiency (CVID), cytopenias with massive splenomegaly, and nodular regenerative hyperplasia of the liver. Genetic studies identified a novel, single-point mutation variant in NFκB1, c. T638A p. V213E. (2) Methods: Next-generation panel sequencing of the patient uncovered a novel single-point mutation in the NFκB1 gene that was modeled using the I-TASSER homology-modeling software, and molecular dynamics were assessed using the YASARA2 software (version 20.14.24). (3) Results: This variant replaces valine with glutamic acid at position 213 in the NFκB1 sequence. Molecular modeling and molecular dynamic studies showed altered dynamics in and around the rel homology domain, ankyrin regions, and death domain of the protein. We postulate that these changes alter overall protein function. (4) Conclusions: This case suggests the pathogenicity of a novel variant using protein-modeling techniques and molecular dynamic simulations.