MYC-rearranged mature B-cell lymphomas in children and young adults are molecularly Burkitt Lymphoma.

Aggressive B-cell non-Hodgkin lymphomas (NHL) in children, adolescents, and young adults (CAYA) include Burkitt lymphoma (BL), diffuse large B-cell lymphoma (DLBCL), and a subset of high-grade tumors with features intermediate between these entities whose genetic and molecular profiles have not been completely elucidated. In this study, we have characterized 37 aggressive B-NHL in CAYA, 33 with high-grade morphology, and 4 DLBCL with MYC rearrangement (MYC-R), using targeted next-generation sequencing and the aggressive lymphoma gene expression germinal center B-cell-like (GCB), activated B-cell-like (ABC), and dark zone signatures (DZsig). Twenty-two tumors had MYC-R without BCL2 breaks, and two MYC-non-R cases had BCL6 translocations.

Robotic management of urinary fistula.

Objectives: To highlight critical preoperative and intraoperative considerations in approaching fistula repair robotically.

Methods: A search of the literature was conducted to identify relevant articles pertaining to robotic management of urinary fistulae.

Results: Fistulae of the genitourinary tract can be a challenging dilemma for urologists, as definitive management may require surgical intervention.

Robotic Management of Complex Vesicourethral Anastomosis Stenosis With Transperineal Urethral Advancement: A Step-by-Step Technique.

Background: Vesicourethral anastomosis stenosis (VUAS) refers to the diameter narrowing of a vesicourethral anastomosis (VUA). It is a known complication after radical prostatectomy that nowadays presents in less than 1% of these cases. When the lumen narrows sufficiently to impede urine flow, obstructive symptoms arise.

Decoding the molecular heterogeneity of pediatric monomorphic post-solid organ transplant lymphoproliferative disorders.

Posttransplant lymphoproliferative disorders (PTLDs) represent a broad spectrum of lymphoid proliferations, frequently associated with Epstein-Barr virus (EBV) infection. The molecular profile of pediatric monomorphic PTLDs (mPTLDs) has not been elucidated, and it is unknown whether they display similar genetic features as their counterpart in adult and immunocompetent (IMC) pediatric patients. In this study, we investigated 31 cases of pediatric mPTLD after solid organ transplantation, including 24 diffuse large B-cell lymphomas (DLBCLs), mostly classified as activated B cell, and 7 cases of Burkitt lymphoma (BL), 93% of which were EBV positive.

Robotic-assisted Simple Prostatectomy: An Intrafascial Approach for a Prostate of 470 g.

Background: Simple prostatectomy has been established as a management option for lower urinary tract symptoms (LUTS) due to benign prostatic hyperplasia (BPH) with glands larger than 80 cc. Robotic-assisted simple prostatectomy (RASP) has been established as a safe and effective management option. This has been reported in multiple studies comparing it with the open approach where no statistically significant differences in complication rates have been found.

Retrospective Cohort Study of Practical Applications of Paramagnetic Seed Localisation in Breast Carcinoma and Other Malignancies.

(1) Background: Paramagnetic seeds are a safe alternative for the wire-guided localisation of non-palpable breast lesions, but can also be applied for non-breast lesions. This study presents the experience with a paramagnetic seed, MagSeed® (Endomagnetics Ltd., Cambridge, UK, CE-registered and FDA-cleared), in an academic and non-academic breast centre.

Diverse mutations and structural variations contribute to Notch signaling deregulation in paediatric T-cell lymphoblastic lymphoma.

Background: T-cell lymphoblastic lymphoma (T-LBL) is an aggressive neoplasm closely related to T-cell acute lymphoblastic leukaemia (T-ALL). Despite their similarities, and contrary to T-ALL, studies on paediatric T-LBL are scarce and, therefore, its molecular landscape has not yet been fully elucidated. Thus, the aims of this study were to characterize the genetic and molecular heterogeneity of paediatric T-LBL and to evaluate novel molecular markers differentiating this entity from T-ALL.

The onset of PI3K-related vascular malformations occurs during angiogenesis and is prevented by the AKT inhibitor miransertib.

Low-flow vascular malformations are congenital overgrowths composed of abnormal blood vessels potentially causing pain, bleeding and obstruction of different organs. These diseases are caused by oncogenic mutations in the endothelium, which result in overactivation of the PI3K/AKT pathway. Lack of robust in vivo preclinical data has prevented the development and translation into clinical trials of specific molecular therapies for these diseases.

Comparative study of the word capacity and episodic memory of patients with degenerative dementia.

Introduction: Although the absence of memory impairment was considered among the diagnostic criteria to differentiate Alzheimer's disease (AD) from Behavioural Variant of Frontotemporal Dementia (bvFTD), current and growing evidence indicates that a significant percentage of cases of bvFTD present with episodic memory deficits. In order to compare the performance profile of the naming capacity and episodic memory in patients with AD and bvFTD the present study was designed.

Methods: Cross-sectional and analytical study with control group (32 people).

Efficacy of Sirolimus in Patients Requiring Tracheostomy for Life-Threatening Lymphatic Malformation of the Head and Neck: A Report From the European Reference Network.

Extensive lymphatic malformations (LMs) of the head and neck region may require tracheostomy to secure the airway. Treatment of these life-threatening LMs is usually multimodal and includes sclerotherapy and surgery, among others. Recently, systemic therapy with sirolimus has been introduced as an effective treatment for venous and lymphatic malformations; its efficacy and safety profile in patients with extensive LM requiring tracheostomy are, however, as yet not fully known.

Case Report: Characterizing the Role of the STXBP2-R190C Monoallelic Mutation Found in a Patient With Hemophagocytic Syndrome and Langerhans Cell Histiocytosis.

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory disorder. HLH can be considered as a threshold disease depending on the trigger and the residual NK-cell cytotoxicity. In this study, we analyzed the molecular and functional impact of a novel monoallelic mutation found in a patient with two episodes of HLH.

Prognostic value of patient-derived xenograft engraftment in pediatric sarcomas.

The goals of this work were to identify factors favoring patient-derived xenograft (PDX) engraftment and study the association between PDX engraftment and prognosis in pediatric patients with Ewing sarcoma, osteosarcoma, and rhabdomyosarcoma. We used immunodeficient mice to establish 30 subcutaneous PDX from patient tumor biopsies, with a successful engraftment rate of 44%. Age greater than 12 years and relapsed disease were patient factors associated with higher engraftment rate.

Comparative Study of the Word Capacity and Episodic Memory of Patients with Degenerative Dementia.

Introduction: Although the absence of memory impairment was considered among the diagnostic criteria to differentiate Alzheimer's disease (AD) from Behavioural Variant of Frontotemporal Dementia (bvFTD), current and growing evidence indicates that a significant percentage of cases of bvFTD present with episodic memory deficits. In order to compare the performance profile of the naming capacity and episodic memory in patients with AD and bvFTD the present study was designed.

Methods: Cross-sectional and analytical study with control group (32 people).

Synchronous choroid plexus papilloma and Wilms tumor in a girl, disclosing a Li-Fraumeni syndrome.

Background: Li-Fraumeni Syndrome (LFS) is a cancer predisposition syndrome characterized by the early-onset of multiple primary cancers which can occur at different moments (metachronous onset) or, more rarely, coincidentally (synchronous onset). Here we describe a previously unreported patient with presentation of synchronous Wilms tumor and Choroid plexus papilloma, leading to the diagnosis of a Li-Fraumeni Syndrome (LFS).

Case Presentation: A 6-year-old girl without previous complains presented with abdominal pain.

Cancer Surveillance in Healthy Carriers of Germline Pathogenic Variants in : A Review of Secondary Prevention Guidelines.

Germline pathogenic alterations in the breast cancer susceptibility genes 1 () and 2 () are the most prevalent causes of hereditary breast and ovarian cancer. The increasing trend in proportion of cancer patients undergoing genetic testing, followed by predictive testing in families of new index patients, results in a significant increase of healthy germline 2 mutation carriers who are at increased risk for breast, ovarian, and other -related cancers. This review aims to give an overview of available screening guidelines for female and male carriers of pathogenic or likely pathogenic germline variants per cancer type, incorporating malignancies that are more or less recently well correlated with .

Bicuspid Aortic Valve Associated with Severe Aortic Regurgitation and Large Aortic Root Aneurysm.

We described the case of a 30-year-old male who came to the Emergency Department complaining of left shoulder pain and dyspnea under exertion. A bicuspid aortic valve and aneurysm of root and ascending aorta were diagnosed. These were initially managed with medical therapy and ultimately with definitive surgical correction.

Unexpected Reduced Biventricular Ejection Fraction in a Healthy Young Male.

We describe the case of a 31-year-old male who came to the emergency department complaining of marked bilateral lower extremities edema, dyspnea, fatigue, and exertion intolerance. Strategies for the management of viral myocarditis with acute heart failure include pharmacological therapies and mechanical circulatory assist devices if required. Despite multiple available diagnostic methods and treatments, viral myocarditis remains as an etiology of challenging diagnosis, and poor prognosis with a high mortality rate.

Distinct molecular profile of IRF4-rearranged large B-cell lymphoma.

Pediatric large B-cell lymphomas (LBCLs) share morphological and phenotypic features with adult types but have better prognosis. The higher frequency of some subtypes such as LBCL with IRF4 rearrangement (LBCL-IRF4) in children suggests that some age-related biological differences may exist. To characterize the genetic and molecular heterogeneity of these tumors, we studied 31 diffuse LBCLs (DLBCLs), not otherwise specified (NOS); 20 LBCL-IRF4 cases; and 12 cases of high-grade B-cell lymphoma (HGBCL), NOS in patients ≤25 years using an integrated approach, including targeted gene sequencing, copy-number arrays, and gene expression profiling.

Burkitt-like lymphoma with 11q aberration: a germinal center-derived lymphoma genetically unrelated to Burkitt lymphoma.

Burkitt-like lymphoma with 11q aberration is characterized by pathological features and gene expression profile resembling those of Burkitt lymphoma but lacks the rearrangement and carries an 11q-arm aberration with proximal gains and telomeric losses. Whether this lymphoma is a distinct category or a particular variant of other recognized entities is controversial. To improve the understanding of Burkitt-like lymphoma with 11q aberration we performed an analysis of copy number alterations and targeted sequencing of a large panel of B-cell lymphoma-related genes in 11 cases.

Building a network for multicenter, prospective research of central nervous system infections in South America: Process and lessons learned.

Multicenter collaborative networks are essential for advancing research and improving clinical care for a variety of conditions. Research networks are particularly important for central nervous system infections, which remain difficult to study due to their sporadic occurrence and requirement for collection and testing of cerebrospinal fluid. Establishment of long-term research networks in resource-limited areas also facilitates diagnostic capacity building, surveillance for emerging pathogens, and provision of appropriate treatment where needed.

Sirolimus as an alternative treatment in patients with granulomatous-lymphocytic lung disease and humoral immunodeficiency with impaired regulatory T cells.

Background: One of the most frequent non-infectious complications of humoral immunodeficiencies with a CVID-like pattern is a particular form of inflammatory lung disease which is called granulomatous-lymphocytic interstitial lung disease (GLILD). Its development worsens patient prognosis, with a significant decrease in survival. Currently, there are no unified guidelines regarding its management, and different combinations of immunosuppressants have been used with variable success.