The synergism of SMC1A cohesin gene silencing and bevacizumab against colorectal cancer.

Background: SMC1A is a subunit of the cohesin complex that participates in many DNA- and chromosome-related biological processes. Previous studies have established that SMC1A is involved in cancer development and in particular, is overexpressed in chromosomally unstable human colorectal cancer (CRC). This study aimed to investigate whether SMC1A could serve as a therapeutic target for CRC.

Donor Cell Acute Myeloid Leukemia after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease: A Case Report and Literature Review.

The patient reported here underwent hematopoietic stem cell transplantation (HSCT) due to chronic granulomatous disease (CGD) caused by biallelic mutations of the NCF1 gene. Two years later, he developed AML, which was unexpected and was recognized via sex-mismatched chromosomes as deriving from the donor cells; the patient was male, and the donor was his sister. Donor cell leukemia (DCL) is very rare, and it had never been reported in patients with CGD after HSCT.

Ataluren improves myelopoiesis and neutrophil chemotaxis by restoring ribosome biogenesis and reducing p53 levels in Shwachman-Diamond syndrome cells.

Shwachman-Diamond syndrome (SDS) is characterized by neutropenia, exocrine pancreatic insufficiency and skeletal abnormalities. SDS bone marrow haematopoietic progenitors show increased apoptosis and impairment in granulocytic differentiation. Loss of Shwachman-Bodian-Diamond syndrome (SBDS) expression results in reduced eukaryotic 80S ribosome maturation.

Laparoscopic management of colovesical fistula in different clinical scenarios.

Introduction: Colovesical fistula (CVF) is a condition with various aetiologies and presentations. Surgical treatment is necessary in most cases. Due to its complexity, open approach is preferred.

Safety profile of treatment with greenlight versus Thulium Laser for benign prostatic hyperplasia.

Objective: The major strengths of surgical treatment of benign prostatic hyperplasia with laser are reduced morbidity compared to endoscopic resection. No studies analysed the different risk of intra/peri-operative events between patients undergoing Thulium and GreenLight procedures.

Materials And Methods: We retrospectively reviewed 100 consecutive cases undergoing GreenLight vaporization and Thulium procedures performed during the learning curve of two expert endoscopic surgeons.

Efficacy and safety profile of GreenLight laser photoselective vaporization of the prostate in ≥ 75 years old patients: results from the Italian GreenLight Laser Study Group.

Background: Benign Prostatic Obstruction (BPO) is the most common non-malignant urological condition among men and its incidence rise with age. Among prostate treatments, GreenLight laser seems to reduce bleeding and would be safer in the aging population.

Aims: We aimed to compare the functional outcomes and safety profile of < 75 years old (Group A) and ≥ 75 years old (Group B) patients.

Asymptomatic bacteriuria in candidates for active treatment of renal stones: results from an international multicentric study on more than 2600 patients.

The occurrence of asymptomatic bacteriuria concomitant to urolithiasis is an issue for patients undergoing renal stone treatment. Disposing of a preoperative urine culture is essential to reduce the risk of septic events. The endpoint of the study is to report which characteristics of candidates for renal stone treatment are frequently associated with positive urine culture.

Congenital cysts of the lower male genitourinary tract: a disorder with various treatment approaches and pitfalls-case report.

Background: The cysts of the male pelvic floor represent a rare clinical entity. Their origin is linked to an altered development of paramesonephric and mesonephric ducts during embryogenesis.

Case Presentation: We report our experience regarding two patients presenting cysts of the ejaculatory system treated with open and mini-invasive surgery.

Case Report: Heterozygous Germline Variant in Additional to Biallelic Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome.

Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy mainly characterized by exocrine pancreatic insufficiency, skeletal alterations, neutropenia, and a relevant risk of hematological transformation. At least 90% of SDS patients have pathogenic variants in the first gene associated with the disease with very low allelic heterogeneity; three variants, derived from events of genetic conversion between and its pseudogene, , provided the alleles observed in about 62% of SDS patients. We performed a reanalysis of the available WES files of a group of SDS patients with biallelic pathogenic variants, studying the results by next bioinformatic and protein structural analysis.

Comparison between prone and supine nephrolithotomy in pediatric population: a double center experience.

Purpose: Stone disease in the pediatric age is an increasing issue. Percutaneous Nephrolithotomy (PNL) can be used for larger and complex stones. As in adults it can be performed in the supine or prone position.

Percutaneous and endoscopic combined treatment of bladder and renal lithiasis in mitrofanoff conduit.

Introduction And Objectives: Treatment of bulky lithiasis in continent and non-continent urine storage reservoirs has been widely described and debated (1). Less is known about the optimal treatment in patients with a Mitrofanoff conduit. If voiding in these patients is incomplete, leading to recurrent symptomatic bacteriuria, formation of large lithiasis can be a common long-term complication (2, 3).

Enhanced p53 Levels Are Involved in the Reduced Mineralization Capacity of Osteoblasts Derived from Shwachman-Diamond Syndrome Subjects.

Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by bone marrow failure, exocrine pancreatic insufficiency, and skeletal abnormalities, caused by loss-of-function mutations in the gene, a factor involved in ribosome biogenesis. By analyzing osteoblasts from SDS patients (SDS-OBs), we show that SDS-OBs displayed reduced gene expression and reduced/undetectable SBDS protein compared to osteoblasts from healthy subjects (H-OBs). SDS-OBs cultured in an osteogenic medium displayed a lower mineralization capacity compared to H-OBs.

The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations.

Background: An isochromosome of the long arm of chromosome 7, i(7)(q10), and an interstitial deletion of the long arm of chromosome 20, del(20)(q), are the most frequent anomalies in the bone marrow of patients with Shwachman-Diamond syndrome, which is caused in most cases by mutations of the SBDS gene. These clonal changes imply milder haematological symptoms and lower risk of myelodysplastic syndromes and acute myeloid leukaemia, thanks to already postulated rescue mechanisms.

Results: Bone marrow from fourteen patients exhibiting either the i(7)(q10) or the del(20)(q) and coming from two large cohorts of patients, were subjected to chromosome analyses, Fluorescent In Situ Hybridization with informative probes and array-Comparative Genomic Hybridization.

Post-Operative Acute Urinary Retention After Greenlight Laser. Analysis of Risk Factors from A Multicentric Database.

Purpose: Greenlight laser is a mini-invasive technique used to treat Benign Prostatic Obstruction (BPO). Some of the advantages of GreenLight photoselective vaporization (PVP) are shorter catheterization time and hospital stay compared to TURP. Post-operative acute urinary retention (pAUR) leads to patients' discomfort, prolonged hospital stay and increased health care costs.

The use of endoscopic combined intrarenal surgery as an additional approach to upper urinary tract urothelial carcinoma: Our Experience.

Introduction: With increasing experience and advancing technology, endoscopy for UTUC has become more common. Endoscopic Combined Intrarenal Surgery (ECIRS) could be an option for patients with low-grade and large-volume UTUC that could be either anatomically or technically challenging to manage by retrograde flexible ureterorenoscopy.

Materials And Methods: In this video, we describe, step by step, our ECIRS technique as applied to two selected clinical cases of UTUC.

Rigid and flexible ureteroscopy (URS/RIRS) management of paediatric urolithiasis in a not endemic country.

Introduction: In the last years due to miniaturization of endoscopic instruments and percutaneous surgery, endourology has become very popular in paediatric urinary stone managment. We reported our single-centre experience in retrograde endoscopic procedures in children. Results and complications of URS/RIRS are discussed.

Initial Experience and Evaluation of a Nomogram for Outcome Prediction in Management of Medium-sized (1-2 cm) Kidney Stones.

Background: The gold standard treatment for solitary medium-sized (1-2 cm) renal stones is not defined by recent guidelines, since management modalities including shockwave lithotripsy (SWL), retrograde intrarenal surgery (RIRS), and percutaneous nephrolithotomy (PNL) are recommended. Improved ability to predict patient outcomes would aid in patients' counseling and decision-making.

Objective: To develop a nomogram predicting treatment failure, based on preoperative clinical variables, to be used in the preplanning setting.

The safety and feasibility of the simultaneous use of 180-W GreenLight laser for prostate vaporization during concomitant surgery.

Objectives: To explore the safety and feasibility of photo-selective vaporization of the prostate (PVP) with GreenLight XPS 180 Watt laser (GL-180- W XPS) combined with other surgical procedures.

Material And Methods: Data on patients in whom GL-180-W XPS was performed to relieve lower urinary tract symptoms/ benign prostatic hyperplasia (LUTS/BPH) symptoms were extracted from a multi-institutional database (2011-2016). Patients were stratified into two groups.

Paracrine effect of human adipose-derived stem cells on lymphatic endothelial cells.

The proposal of this study was to evaluate, , the potential paracrine effect of human adipose-derived stem cells (hASCs) to promote lymphangiogenesis in lymphatic endothelial cells isolated from rat diaphragmatic lymphatic vessels.  ELISA on VEGFA, VEGFC and IL6 in hASC-conditioned medium; LYVE1 immunostaining; and gene expression of , , and were the methods used.  In 2D culture, hASC-conditioned medium was able to promote lymphatic endothelial cell survival, maintenance of endothelial cobblestone morphology and induction to form a vessel-like structure.