Medicine
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Case Reports
A novel heterozygous mutation of the NPHS1 gene in a Chinese child with congenital nephrotic syndrome: A case report.
Congenital nephrotic syndrome (CNS) is a heterogeneous disorder in which massive proteinuria, hypoproteinemia, and hyperlipidemia and marked edema are the main manifestations before 3 months-of-age. Here, we present a case involving the genetic diagnosis of a child with CNS. ⋯ Whole exome sequencing and Sanger sequencing confirmed that the infant had CNS. Our study identified a novel mutation in an infant, thus expanding the gene-mutation spectrum of the NPHS1 gene, thus providing an efficient prenatal screening strategy and early genetic counseling.
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This study aimed to evaluate the effect of within-endobag cystectomy during and after laparoscopic ovarian cystectomy in patients with dermoid cysts. We retrospectively analyzed 84 patients with ovarian dermoid cysts who underwent laparoscopic ovarian cystectomy. In 30 patients, the affected ovary was placed in an endobag before cystectomy and cystectomy was performed within an endobag (within-endobag group), while the remaining 54 patients underwent standard cystectomy without this step (without-endobag group). ⋯ No chemical peritonitis due to spillage of the cyst contents was observed in either group. Laparoscopic ovarian cystectomy performed within-endobag can reduce both the spillage rate of cyst contents and operation time regardless of cyst size in patients with ruptured cysts. Therefore, this technique is a good surgical option for the laparoscopic ovarian cystectomy of large dermoid ovarian cysts.
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Breast cancer is the most commonly diagnosed cancer in women and the second leading cause of cancer-related death worldwide. Positive family history increases the likelihood of developing this disease. As late-stage presentation and poor survival rates are associated with a lack of knowledge about breast cancer and its screening methods, this study aimed to evaluate the knowledge of Lebanese women with first-degree relatives who were diagnosed with breast cancer. ⋯ Furthermore, younger participants who reached university level and were employed had more insights into breast cancer. Breast cancer knowledge and early diagnosis are key elements in preventing late presentations and reducing the associated morbidity and mortality. Further educational and awareness campaigns should be conducted in Lebanon to improve women knowledge of breast cancer.
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Systemic lupus erythematosus is a chronic autoimmune disease that affects most tissues. Cardiovascular events are critical, life-threatening, long-term complications of systemic lupus erythematosus (SLE). We report our single-center experience of performing cardiovascular surgery in patients with SLE while avoiding postoperative complications. ⋯ Surgical treatment of cardiovascular disease in these patients is difficult and complex. We focused on blood coagulation abnormalities and treated each patient by selecting the best individual treatment protocol according to the severity of the disease, taking into account the risk of bleeding and thrombosis. Management of blood coagulation function in these patients is essential, and careful therapeutic management should be considered during open-heart surgery.
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Colorectal cancer (CRC) is a heterogeneous disease with an increasing trend and with multiple epigenetic alterations and different molecular features, a major cause of mortality and morbidity. The Wnt/β-Catenin pathway is involved in multiple aspects of cell dynamics, architecture of developing gastrointestinal tissues, and intestinal tissue homeostasis in adults, but its aberrant activity plays an important role in every aspect of colorectal carcinogenesis. The aim of our study was to investigate the association of the TCF7L2 rs7903146, CASC8 rs6983267, and Gremlin1 (GREM1) rs16969681 polymorphism in patients with CRC without other pathologies. ⋯ We observed no association between rs6983267 and rs16969681 polymorphism and risk of CRC and low association between TCF7L2, rs7903146, polymorphism and risk of CRC. The recessive model of the TCF7L2 rs7903146 had an OR of 1.6 (95% CI 0.058-4.414, P < .05) which means that TT genotype increased the risk and possibility of development of CRC. Our study did not confirm a significant association between TCF7L2 rs7903146, CASC8 rs6983267, and GREM1 rs16969681 with CRC, but emphasizes the possibility of existence of a high risk of CRC development in patients with TT genotype of rs7903146.