[Next generation sequencing in pediatric bone marrow failure: a valuable tool for accurate diagnosis].

Unlabelled: Inherited Bone Marrow Failure syndromes account for approximately 25% of cases of aplastic anemia in pediatric patients. Next-generation sequencing (NGS) technologies have allowed the diagnosis of an increasing number of hereditary causes of bone marrow failure.

Objective: To determine the diagnostic yield and clinical concordance of NGS in the diagnosis of a cohort of pediatric patients with bone marrow failure.

Multi-elemental analysis of commercial wheat flours by ICP-MS triple quadrupole in function of the milling degree.

This preliminary study is focused on an elemental analysis of 60 samples of different commercial grains' flour, including various typologies of refined product, researching transition metals and trace elements. All the samples were first digested with a microwave digestion system and then analyzed by a triple quadrupole (TQ) inductively coupled plasma mass spectrometer (ICP-MS-QQQ) located in a Clean Room ISO class 6. The minimum value of most of the elements (Li, Be, Na, Ca, V, Cr, Mn, Fe, Co, Ni, Zn, Ga, As, Se, Rb, Sr) are in the wheat flour "00" type and in the wheat flour "0" type (B, Na, Mg, Al, Cu, Ag, Cd, In, Cs, Pb, Bi).

Haploidentical and Matched Sibling Transplantation for Acute Myeloid Leukemia: A Hospital-Based Study.

Background: Allogeneic peripheral blood stem cell transplantation (PBSCT) has been increasing for the last years in Latin America. The objective of this study was to describe clinical outcomes in acute myeloid leukemia (AML) receiving allogeneic PBSCT between 2013 and 2019 in a single center of Cali, Colombia.

Methods: A retrospective cohort study was conducted in Fundacion Valle del Lili.

Outcomes and challenges treating pediatric acute myeloid leukemia: a retrospective analysis of patients treated at the Fundación Valle del Lili between 2011 and 2020.

Introduction: Acute myeloid leukemia is a challenging disease, due to a poor prognosis in developing countries. Herein, we aim to describe the clinical characteristics and outcomes after chemotherapy and transplantation.

Methods: A retrospective analytic observational study was performed with patients under 18 years of age with newly diagnosed acute myeloid leukemia treated at a referral center in Colombia.

APOL1 Gene Variants and Risk for Cardiovascular Disease.

Introduction: The association of APOL1 risk variants with cardiovascular risk and cardiovascular disease (CVD) in observational and clinical trials has had inconsistent results. We aim to assess the relationship between the presence of APOL1 risk variants and the CVD risk in Afro-descendant patients with end-stage renal disease (ESRD).

Methods: We performed an observational, cross-sectional study of Afro-descendant adult patients with ESRD who were on the waitlist for a kidney transplant.

Physician experience improves ability to predict 6-month functional outcome of severe traumatic brain injury.

Background: The functional prognosis of severe traumatic brain injury (TBI) during the acute phase is often poor and uncertain. We aimed to quantify the elements that shade the degree of uncertainty in prognostic determination of TBI and to better understand the role of clinical experience in prognostic quality.

Methods: This was an observational, prospective, multicenter study.

Impact of health-related quality of life on pediatric patients who underwent hematopoietic stem cell transplantation in a Colombian institution.

Introduction: Hematopoietic stem cell transplantation is the curative option for some diseases and is increasing patient survival. The health-related quality of life in these patients is not systematically evaluated. Objectives: The present study sought to describe the health-related quality of life and complications in children who underwent hematopoietic stem cell transplantation.

A Mobile Application for Teaching and Learning Critical Thinking About Health Choices Among Youth in Rwanda: A Digital Tool for Youth Friendly Center Counsellors.

Mobile health applications can help to disseminate educational health interventions and be widely used. However, mobile health applications not carefully developed will likely not be adopted by the intended users. This paper describes the methodology used to develop a mobile health application for teaching critical thinking about health to youth attending youth friendly centres in Rwanda.

Treatment of post-transplant recurrent FSGS in children using plasmapheresis and augmentation of immunosuppression.

Background: Up to 60% of pediatric renal transplant recipients with end-stage renal disease due to primary focal and segmental glomerulosclerosis (FSGS) may develop recurrent disease. Such recurrence is associated with poor prognosis if no remission is achieved. We report a single center experience with a protocol based on plasmapheresis and increased immunosuppression that resulted in a high long-lived remission rate.

Prophylaxis for invasive fungal infection in pediatric patients with allogeneic hematopoietic stem cell transplantation.

Background: Antifungal prophylaxis is recommended for hematopoietic stem cell transplantation (HSCT) to decrease the incidence of invasive fungal infections (IFI). This study aimed to compare the two groups of antifungal prophylaxis in pediatric patients undergoing allogeneic HSCT.

Methods: This observational, analytic, retrospective cohort study compared the incidence of IFI with antifungal prophylaxis with voriconazole vs.

Outcomes in pediatrics patients diagnosed with bone marrow failure disorders treated in a tertiary care center.

Introduction: Bone marrow failure (BMF) syndromes are rare disorders with an annual incidence of 2-4 cases per million. Treatment options include immunosuppressive therapy (IST) and hematopoietic stem cell transplantation (HSCT).

Objective: To analyze the outcomes of pediatric patients diagnosed with BMF treated in a tertiary care center.

Corrigendum to "Prevalence of APOL1 Risk Variants in Afro-Descendant Patients with Chronic Kidney Disease in a Latin American Country".

[This corrects the article DOI: 10.1155/2019/7076326.].

Primary leiomyoma of the liver in an immunocompetent patient.

Primary leiomyoma of the liver (PLL) is a rare benign tumor occurring in immunosuppressed people. From 1926 less than fifty cases are reported in the scientific literature and about half are in immunocompetent patients. Etiology of this kind of lesion is not yet well known.

Risk Factors Related to New-Onset Diabetes after Renal Transplantation in Patients of a High Complexity University Hospital in Colombia, 20 Years of Experience.

Introduction: New-onset diabetes after transplantation (NODAT) is associated with immunosuppression. Its complications can negatively influence patients' quality of life, which is why it is important to study the associated risk factors and expand the possible therapies in this particular group of patients. .

Hematopoietic Stem Cell Transplantation in Children with Inborn Errors of Immunity: a Multi-center Experience in Colombia.

Purpose: To characterize the pediatric population with inborn errors of immunity (IEI) that was treated with hematopoietic stem cell transplantation (HSCT) in three reference centers in Colombia. What have been the characteristics and outcomes of hematopoietic stem cell transplantation in pediatric patients with inborn errors of immunity in three reference care centers in Colombia between 2007 and 2018?

Methods: We conducted an observational, retrospective cohort study in children with a diagnosis of IEI who underwent HSCT between 2007 and 2018.

Results: Forty-seven patients were identified, and 5 were re-transplanted.

Genetically driven CD39 expression shapes human tumor-infiltrating CD8 T-cell functions.

In our study, we investigated the role of CD39 on tumor-infiltrating CD8 T lymphocytes (CD8 TILs) in colorectal, head and neck and pancreatic cancers. Partially confirming recent observations correlating the CD39 expression with T-cell exhaustion, we demonstrated a divergent functional activity in CD39 CD8 TILs. On the one hand, CD39 CD8 TILs (as compared to their CD39 counterparts) produced significantly lower IFN-γ and IL-2 amounts, expressed higher PD-1, and inversely correlated with perforin and granzyme B expression.

Haploidentical stem cell transplant with post-transplantation cyclophosphamide and mini-dose methotrexate in children.

Background: Haploidentical stem cell transplantation (haplo-SCT) is an option for patients without human leukocyte antigen-matched related or unrelated donor. Post-transplantation cyclophosphamide (PTCy) is an effective method of graft versus host disease (GVHD) prophylaxis and permits the use of T-cell replete grafts in settings were ex vivo manipulation is not feasible.

Methods: A retrospective study among patients younger than 18 years, with a history of hematologic malignancies who underwent haplo-SCT between 2012 and 2016.

Prevalence of APOL1 Risk Variants in Afro-Descendant Patients with Chronic Kidney Disease in a Latin American Country.

Introduction: In Colombia, the genetic background of the populations was shaped by different levels of admixture between Natives, European, and Africans. Approximately 35.363 patients have diagnosed chronic kidney disease and according to population studies, 10.

Cytomegalovirus disease in patients with hematopoietic stem cell transplantation, experience over 8 years.

Objective: Cytomegalovirus infection and disease are significant causes of morbidity and mortality among patients with hematopoietic stem cell transplantation. The aim of this study was to assess the frequency of cytomegalovirus infection and characterize the patients who developed the disease.

Methods: A retrospective cohort study was performed among adult patients, recipients of allogeneic HSTC between 2008 and 2015.

Bacteremia in pediatric patients with hematopoietic stem cell transplantation.

Background: This study aimed to describe the incidence, microbiological profile, and risk factors associated with bacteremia in pediatric patients with hematopoietic stem cell transplantation (HSCT).

Methods: A retrospective cohort study was performed on patients under 18 years old who underwent HSCT due to any indication, between January 2012 and January 2017. The patient data were collected from the first 100 days post-HSCT.

The FXR agonist obeticholic acid inhibits the cancerogenic potential of human cholangiocarcinoma.

Cholangiocarcinoma (CCA) is an aggressive cancer with high resistance to chemotherapeutics. CCA is enriched in cancer stem cells, which correlate with aggressiveness and prognosis. FXR, a member of the metabolic nuclear receptor family, is markedly down-regulated in human CCA.

Advanced chondrosarcoma of the pelvis: A rare case of urinary obstruction.

Chondrosarcoma is the second most common malignant tumor of the bone with an incidence of 1 in 200.000 per year. Axial skeleton is frequently involved showing poorer oncological outcomes than appendicular one: human pelvis is a site predilection.

The role of nutraceutical medications in men with non bacterial chronic prostatitis and chronic pelvic pain syndrome: A prospective non blinded study utilizing flower pollen extracts versus bioflavonoids.

Introduction: Chronic prostatitis (CP)/chronic pelvic pain syndrome (CPPS) represents a challenge for the urologist, since the therapeutic efficacy does not always result in a satisfactory quality of life for the patients. Often the side effects of the medications used (antiinflammatories, antibiotics, alpha blockers) far outweighs the benefits gained with their admission. The choice of nutraceutical medications is preferred for their effectiveness, that has been accepted and proven by the scientific community, and for the low incidence of side effects.

Use of a Facilitated Group Process to Design and Implement a Group Antenatal and Postnatal Care Program in Rwanda.

Introduction: The government of Rwanda is exploring strategies that may reduce the incidence of prematurity and low birth weight. Large-scale implementation of group antenatal care (ANC) and postnatal care (PNC) within the context of the Rwanda national health care system is under consideration. To launch a cluster randomized controlled trial of group ANC and PNC in 5 districts in Rwanda, the implementation team needed a customized group care model for this context and trained health care workers to deliver the program.

Wnt3a/β-Catenin Signaling Conditions Differentiation of Partially Exhausted T-effector Cells in Human Cancers.

In this study, we investigated the role of the Wnt/β-catenin signaling pathway in antitumor immune responses. We report that the concentration of secreted Wnt3a was significantly higher in conditioned medium from tumor or nontumor tissues obtained from all hepatocellular carcinoma or colorectal cancer patients tested, than in serum of healthy donors or patients. In addition, both Wnt3a and β-catenin were overexpressed by tumor-infiltrating and nontumor-infiltrating CD4 or CD8 T cells.