Stone Occlusion Device with Drainage Function Is Effective in Ureteral Calculi Treatment: A Preliminary Report.

Introduction: The aim of the study was to assess the efficacy and safety of ureterolithotripsy (URS) in treating ureteral calculi with holmium-YAG laser through adding retropulsion prevention and drainage function to ureteral catheter.

Methods: An inner wire was fixed at the top of an Fr5 ureteral catheter and run through a tee joint. The proximal catheter was split into 4 strips.

Identification of Four Novel Prognostic Biomarkers and Construction of Two Nomograms in Adrenocortical Carcinoma: A Multi-Omics Data Study Bioinformatics and Machine Learning Methods.

Adrenocortical carcinoma (ACC) is an orphan tumor which has poor prognoses. Therefore, it is of urgent need for us to find candidate prognostic biomarkers and provide clinicians with an accurate method for survival prediction of ACC via bioinformatics and machine learning methods. Eight different methods including differentially expressed gene (DEG) analysis, weighted correlation network analysis (WGCNA), protein-protein interaction (PPI) network construction, survival analysis, expression level comparison, receiver operating characteristic (ROC) analysis, and decision curve analysis (DCA) were used to identify potential prognostic biomarkers for ACC via seven independent datasets.

FLCN-regulated miRNAs suppressed reparative response in cells and pulmonary lesions of Birt-Hogg-Dubé syndrome.

Background: Birt-Hogg-Dubé Syndrome (BHDS) characterised by skin fibrofolliculomas, kidney tumour and pulmonary cysts/pneumothorax is caused by folliculin (FLCN) germline mutations. The pathology of both neoplasia and focused tissue loss of BHDS strongly features tissue-specific behaviour of the gene. Isolated cysts/pneumothorax is the most frequent atypical presentation of BHDS and often misdiagnosed as primary spontaneous pneumothorax (PSP).

A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax.

Background: Primary spontaneous pneumothorax (PSP) or pulmonary cysts is one of the manifestations of Birt-Hogg-Dube syndrome (BHDS) that is caused by heterozygous mutations in FLCN gene. Most of the mutations are SNVs and small indels, and there are also approximately 10 % large intragenic deletions and duplications of the mutations. These molecular findings are generally obtained by disparate methods including Sanger sequencing and Multiple Ligation-dependent Probe Amplification in the clinical laboratory.

Promoter methylation is not associated with FLCN irregulation in lung cyst lesions of primary spontaneous pneumothorax.

Germline mutations in FLCN are responsible for ~10% of patients with primary spontaneous pneumothorax (PSP), characterized by multiple lung cysts in the middle/lower lobes and recurrent pneumothorax. These clinical features are also observed in a substantial portion of patients with sporadic PSP exhibiting no FLCN coding mutations. To assess the potential underlying mechanisms, 71 patients with PSP were selected, including 69 sporadic and 2 familial cases, who bared FLCN mutation‑like lung cysts, however, harbored no FLCN protein‑altering mutations.

FLCN intragenic deletions in Chinese familial primary spontaneous pneumothorax.

Primary spontaneous pneumothorax (PSP) is a significant clinical problem, affecting tens of thousands patients annually. Germline mutations in the FLCN gene have been implicated in etiology of familial PSP (FPSP). Most of the currently identified FLCN mutations are small indels or point mutations that detected by Sanger sequencing.

[Chylous leakage after retroperitoneoscopic upper-pole heminephrectomy for duplex kidney].

Objective: To discuss management of chylous leakage after retroperitoneoscopic upper-pole heminephrectomy for duplex kidney.

Methods: Between November 2004 and Februar y 2011, 39 patients underwent retroperitoneoscopic upper-pole heminephrectomy for duplex kidney, of these 5 patients had chylous leakage. The ages of the patients ranged from 32 to 60 years (mean 42).