Germline mutations in the VHL gene associated with 3 different renal lesions in a Chinese von Hippel-Lindau disease family

Von Hippel–Lindau (VHL) disease is a rare autosomal dominant inherited cancer syndrome that is characterized by hemangioblastomas in the central nervous system and retina, renal cell carcinoma and cysts, pancreatic tumors and cysts, and pheochromocytoma. The underlying gene in this disease is the VHL tumor suppressor gene. We characterized a family with 2 affected siblings. The brother and sister displayed VHL type 2B and type 2A features, respectively. Renal lesions in the brother exhibited 3 different phenotypes, including simple renal cysts, multilocular cystic renal cell carcinoma and clear cell renal cell carcinoma. The phenotypes of the 3 concurrent renal lesions were first reported in this study. Mutation detection of the VHL gene revealed 2 recurrent mutations, namely c.256C>T (p.P86S) and c.340 + 5G > C. The former was predicted to be deleterious and to destabilize the hydrophobic core and lead to VHL dysfunction; however, the latter was predicted to be a benign variant. Our findings provided new data for the genotype-phenotype of VHL diseases and elucidated the pathogenic mechanism with in silico analysis.     

Anterior segment parameters on optical coherence tomography in healthy South Asian children

PurposeHigh resolution spectral domain optical coherence tomography (SD-OCT) was used to assess the anterior segment structure parameters in healthy South Asian children.Methods108 eyes of 54 healthy children ≤ 16 years were recruited after a thorough eye exam. The anterior segment analysis was be done by Optopol Revo 80 high resolution SD-OCT. Central corneal thickness (CCT), Angle opening distance (AOD), Anterior chamber (AC) angle, Trabecular iris space area (TISA), Trabecular iris angle (TIA), iris thickness at 2 mm, internal AC diameter and lens vault were evaluated.ResultsMean age was 11.38 years. Mean IOP was 13.63 mmHg, mean axial length, 22.82 mm, mean spherical equivalent, -0.14 D, mean CCT, 532.6 µm and mean CDR was 0.31. The mean internal AC diameter was 11609.15 µm. The nasal and temporal AC angles was 53.54° and 50.37°, respectively [P = .033]. The nasal and temporal AOD500 were 0.9 mm and 0.85 mm, respectively [P = .629]. The nasal and temporal AOD750 were 1.21 mm and 1.06 mm, respectively [P = .583]. The nasal TIA was 41.75°; the temporal TIA; 40.24° [P = .325]. The nasal TISA500 was 0.33 mm²; the temporal TISA500, 0.31 mm² [P = .012]. The nasal TISA750 was 0. 59 mm²; the temporal TISA750, 0.56 mm² [P = .746]. The nasal iris thickness at 2 mm was 483.54 µm; the temporal iris thickness, 505.8 µm [P = .273]. The mean lens vault was -519.58 µm.ConclusionsOur study data depicts the normal anterior segment parameters in healthy Pakistani children.     

The lncRNA MIR4435-2HG promotes lung cancer progression by activating β-catenin signalling

Recently, emerging evidence has suggested that long noncoding RNAs (lncRNAs) have crucial roles in cancer progression. Here, we demonstrated that the lncRNA MIR4435-2HG was highly expressed in lung cancer tissues and correlated with histological grades and lymph node metastasis. Phenotypic analysis indicated that MIR4435-2HG knockdown inhibited lung cancer cell proliferation and invasion in vitro and in vivo. Notably, MIR4435-2HG knockdown suppressed the EMT (epithelial-mesenchymal transition) process and cancer stem cell traits of lung cancer cells. Mechanistically, MIR4435-2HG knockdown decreased the transactivation of β-catenin. MIR4435-2HG interacted with β-catenin and thus prevented its degradation by the proteasome system. Our findings highlight the important roles and mechanisms of MIR4435-2HG in lung cancer progression. High expression of lncRNA MIR4435-2HG correlates with lung cancer progression MIR4435-2HG promotes lung cancer cells proliferation and invasion MIR4435-2HG knockdown suppresses the EMT process and cancer stem cell traits MIR4435-2HG knockdown inhibits the β-catenin signalling.     

High Grade Gynecomastia: Surgical Correction and Potential Impact on Erectile Function

IntroductionGynecomastia denotes benign enlargement of the male breast. It is a common belief that gynecomastia is stigmatizing and may frequently cause social embarrassment and psychological stress. It is possible that this may reflect on erectile function of the afflicted. High grade gynecomastia requires radical breast tissue excision and skin reduction ending up in aesthetically unappealing scars.AimThe purpose of this study is to evaluate the reduction mammaplasty using no vertical scar technique in males with high grade gynecomastia; as regards technical refinements and outcome in the hope of providing a cosmetically appealing solution to this condition. This study also reports on the effect of high grade gynecomastia on erectile function, as well as the effect of surgery.MethodsFifteen male patients with gynecomastia underwent breast reduction using the “no vertical scar reduction mammaplasty.” Erectile function was evaluated before and after surgery.Main Outcome MeasuresSurgical outcome and erectile function.ResultsAll patients but one were satisfied with the outcome. Complications were minimal and manageable. Eleven out of 15 patients had a preoperative International Index of Erectile Function (IIEF) score less than 20 denoting erectile dysfunction. All but one (n = 10) showed improvement in their IIEF score following surgery. The difference between pre-operative IIEF (average 17.8) and postoperative (average 23.5) was statistically significant.ConclusionsThe “no vertical scar reduction mammaplasty” is a reliable technique in cases with gynecomastia and significant ptosis. It has the added benefits of avoiding the vertical scar, hiding the transverse scar in the shadow of the inferior aspect of the breast, with minimal complications. Gynecomastia as a condition causing a feminized outlook may have a negative impact on self confidence and body image. We suggest that this may have a potential negative effect on erectile function, that can be improved by adequate surgical correction. El Noamani S, Thabet AM, Enab AA, Shaeer O, and El-Sadat A. High grade gynecomastia: Surgical correction and potential impact on erectile function.