Objective: Urolithiasis formation has been attributed to environmental and dietary factors. However, evidence is accumulating that genetic background can contribute to urolithiasis formation. Advancements in the ident...Objective: Urolithiasis formation has been attributed to environmental and dietary factors. However, evidence is accumulating that genetic background can contribute to urolithiasis formation. Advancements in the identification of monogenic causes using high-throughput sequencing technologies have shown that urolithiasis has a strong heritable component.Methods: This review describes monogenic factors implicated in a genetic predisposition to urolithiasis. Peer-reviewed journals were evaluated by a PubMed search until July 2023 to summarize disorders associated with monogenic traits, and discuss clinical implications of identification of patients genetically susceptible to urolithiasis formation.Results: Given that more than 80% of urolithiases cases are associated with calcium accumulation, studies have focused mainly on monogenetic contributors to hypercalciuric urolithiases, leading to the identification of receptors, channels, and transporters involved in the regulation of calcium renal tubular reabsorption. Nevertheless, available candidate genes and linkage methods have a low resolution for evaluation of the effects of genetic components versus those of environmental, dietary, and hormonal factors, and genotypes remain undetermined in the majority of urolithiasis formers.Conclusion: The pathophysiology underlying urolithiasis formation is complex and multifactorial, but evidence strongly suggests the existence of numerous monogenic causes of urolithiasis in humans.展开更多
In this study, we reported our experience performing robotic extended lymph node dissection （eLND） in patients with prostate cancer. A total of 147 patients with intermediate and high-risk prostate cancer who underw...In this study, we reported our experience performing robotic extended lymph node dissection （eLND） in patients with prostate cancer. A total of 147 patients with intermediate and high-risk prostate cancer who underwent robotic eLND from May 2008 to December 2011 were included in this analysis. The dissection template extended to the ureter crossing the iliac vessels. We assessed lymph node yield, lymph node positivity, and perioperative outcomes. Lymph node positivity was also evaluated according to the number of lymph nodes （LNs） removed （〈22 vs 〉22）. The median number of LNs removed was 22 （11-51）, and 97 positive LNs were found in 24 patients （16.3%）. While the obturator fossa was the most common site for LN metastases （42.3%, 41/97）, the internal iliac area was the most common area for a single positive LN packet （20.8%, 5/24）. Eight patients （33.3%, 8/24） had positive LNs at the common iliac area. The incidence of positive LNs did not differ according to the number of LNs removed. Complications associated with eLND occurred in 21 patients （14.3%） and symptomatic lymphocele was found in five patients （3.4%）. In conclusion, robotic eLND can be performed with minimal morbidity. Furthermore, LN yield and the node positive rate achieved using this robotic technique are comparable to those of open series. In addition, the extent of dissection is more important than the absolute number of LNs removed in eLND, and the robotic technique is not a prohibitive factor for performing eLND.展开更多
文摘Objective: Urolithiasis formation has been attributed to environmental and dietary factors. However, evidence is accumulating that genetic background can contribute to urolithiasis formation. Advancements in the identification of monogenic causes using high-throughput sequencing technologies have shown that urolithiasis has a strong heritable component.Methods: This review describes monogenic factors implicated in a genetic predisposition to urolithiasis. Peer-reviewed journals were evaluated by a PubMed search until July 2023 to summarize disorders associated with monogenic traits, and discuss clinical implications of identification of patients genetically susceptible to urolithiasis formation.Results: Given that more than 80% of urolithiases cases are associated with calcium accumulation, studies have focused mainly on monogenetic contributors to hypercalciuric urolithiases, leading to the identification of receptors, channels, and transporters involved in the regulation of calcium renal tubular reabsorption. Nevertheless, available candidate genes and linkage methods have a low resolution for evaluation of the effects of genetic components versus those of environmental, dietary, and hormonal factors, and genotypes remain undetermined in the majority of urolithiasis formers.Conclusion: The pathophysiology underlying urolithiasis formation is complex and multifactorial, but evidence strongly suggests the existence of numerous monogenic causes of urolithiasis in humans.
文摘In this study, we reported our experience performing robotic extended lymph node dissection （eLND） in patients with prostate cancer. A total of 147 patients with intermediate and high-risk prostate cancer who underwent robotic eLND from May 2008 to December 2011 were included in this analysis. The dissection template extended to the ureter crossing the iliac vessels. We assessed lymph node yield, lymph node positivity, and perioperative outcomes. Lymph node positivity was also evaluated according to the number of lymph nodes （LNs） removed （〈22 vs 〉22）. The median number of LNs removed was 22 （11-51）, and 97 positive LNs were found in 24 patients （16.3%）. While the obturator fossa was the most common site for LN metastases （42.3%, 41/97）, the internal iliac area was the most common area for a single positive LN packet （20.8%, 5/24）. Eight patients （33.3%, 8/24） had positive LNs at the common iliac area. The incidence of positive LNs did not differ according to the number of LNs removed. Complications associated with eLND occurred in 21 patients （14.3%） and symptomatic lymphocele was found in five patients （3.4%）. In conclusion, robotic eLND can be performed with minimal morbidity. Furthermore, LN yield and the node positive rate achieved using this robotic technique are comparable to those of open series. In addition, the extent of dissection is more important than the absolute number of LNs removed in eLND, and the robotic technique is not a prohibitive factor for performing eLND.
