Inherited Thrombocytopenia Related Genes: GPS2 Mediates the Interplay Between ANKRD26 and ETV6.

Mutations in the genes , , and cause three clinically overlapping thrombocytopenias characterized by a predisposition to hematological neoplasms. The gene, which encodes a protein involved in protein-protein interactions, is downregulated by RUNX1 during megakaryopoiesis. Mutations in 5'UTR of ANKRD26, leading to ANKRD26-RT, disrupt this regulation, resulting in the persistent expression of ANKRD26, which leads to impaired platelet biogenesis and an increased risk of leukemia.

Age- and Sex-Related Volumetric Density Differences in Trabecular and Cortical Bone of the Proximal Femur in Healthy Population.

Background: There are age- and sex-related increases in the prevalence of osteoporosis. Bone densitometry based on dual energy X-ray absorptiometry (DXA) is the gold standard for the assessment of bone mineral density (BMD). Three-dimensional (3D) analysis of the proximal femur (3D-DXA) allows discrimination between cortical and trabecular compartments, and it has shown a good correlation with computed tomography.

Prognostic value of circulating tumor cells in oligorecurrent hormone-sensitive prostate cancer patients undergoing stereotactic body radiation therapy.

Background: Stereotactic body radiation therapy (SBRT) is an effective metastasis-directed therapy for managing oligometastatic prostate cancer patients. However, it lacks reliable biomarkers for risk stratification. Circulating Tumor Cells (CTC) show promise as minimally invasive prognostic indicators.

Scanning resources to build an international nursing knowledge network.

This paper reports the gathered information from an international environmental scan of university-baseline information for the creation of a Nursing Knowledge Network. An online environment scan of organizational context (February to October 2021) explored the identification of research areas, existing resources, expected benefits, innovations in teaching research, barriers to knowledge dissemination, and prospective contributions of the Network. Target informants were 200 nursing faculty affiliated with 63 universities located in 13 countries, as well as nursing networks in the Ibero-American context.

Essential thrombocythemia: nutritional management in weight loss and malnutrition.

Essential thrombocythemia is the category of myeloproliferative syndromes, generally characterized by a group of clonal stem cell diseases that present a disturbance in the growth of one or more sets of hematopoietic cells. All long clinical treatment, patients may experience gastrointestinal disorders and other metabolic processes that can lead to weight loss and malnutrition. Cytokine is involved in the control of appetite, digestive, and metabolic processes in the body, it can be assumed that increased stimulation could impair the control of these processes leading to loss of body mass.

Three-year effect of bisphosphonates on bone mineral density after denosumab withdrawal: observations from a real-world study.

Data on long-term treatment regimens for preventing bone mineral density (BMD) loss that occurs after denosumab (Dmab) withdrawal are scarce. Our aim was to evaluate the long-term changes (12-36 months) in BMD and bone turnover markers in a group of postmenopausal women who had been treated with Dmab and received subsequent treatment with bisphosphonates. Secondary objectives were to evaluate factors associated with BMD loss, to compare the BMD change in patients who received oral vs intravenous bisphosphonates, and to assess the frequency of fragility fractures after Dmab discontinuation.

Spontaneous bowel evisceration through umbilical hernia in an adult non-cirrhotic patient.

Few cases of spontaneous bowel evisceration (SBE) through umbilical hernias (UHs) in adult patients have been reported in the literature. Interestingly, the spontaneous rupture of the hernia sac is a rare complication usually seen in adult cirrhotic patients with persistent ascites or in patients with congenital wall defects. A man in his early 50s was admitted to our emergency department with SBE through a long-standing acquired UH.

Recipient hepatectomy technique may affect oncological outcomes of liver transplantation for hepatocellular carcinoma.

To date, caval sparing (CS) and total caval replacement (TCR) for recipient hepatectomy in liver transplantation (LT) have been compared only in terms of surgical morbidity. Nonetheless, the CS technique is inherently associated with an increased manipulation of the native liver and later exclusion of the venous outflow, which may increase the risk of intraoperative shedding of tumor cells when LT is performed for HCC. A multicenter, retrospective study was performed to assess the impact of recipient hepatectomy (CS vs.

Therapeutic Monitoring of Palbociclib, Ribociclib, Abemaciclib, M2, M20, and Letrozole in Human Plasma: A Novel LC-MS/MS Method.

Background: Therapeutic drug monitoring (TDM) using cyclin-dependent kinase inhibitors (CDK4/6is) is a novel approach for optimizing treatment outcomes. Currently, palbociclib, ribociclib, and abemaciclib are the available CDK4/6is and are primarily coadministered with letrozole. This study aimed to develop and validate an LC-MS/MS method for the simultaneous analysis of CDK4/6is, 2 active metabolites of abemaciclib (M2 and M20), and letrozole in human plasma for use in TDM studies.

Getting knowledge to provide care: prevalence and factors associated with Sexually Transmitted Infections in immigrants from Goiás.

Objective: To estimate the prevalence of Sexually Transmitted Infections (STIs) in immigrants and refugees living in the metropolitan region of Goiânia, Goiás.

Method: This is a cross-sectional and analytical study. Data collection was carried out from July 2019 to January 2020 and 308 immigrants and refugees were included in the sample.

Genetic literacy and experiential knowledge on sickle cell disease among Canadian- and foreign-born male and female Anglophone and Francophone youth in Canada.

Objectives: Growing global human mobility raises concerns about impacts on global health, particularly on the prevalence of sickle cell disease. This research unveiled the level of genetic literacy on sickle cell disease of male and female Anglophone and Francophone youth living in Canada. The research responded to questions about whether the type of information about the disease has been more prevalent among the youth's family, friends, acquaintances and school circles, and the influence of such information on shaping the current youth level of genetic literacy on the disease.

Meckel's Diverticulum Causing Ileal Volvulus and Peritonitis after a Recent Appendectomy: A Case Report and Literature Review-We Should Likely Resect an Incidental MD.

Meckel's diverticulum (MD) is the most common congenital anomaly of the gastrointestinal tract with a 1-3% prevalence in the general population. The surgical management of symptomatic MD is well described in the literature, but there is still no consensus on the indication for prophylactic resection of incidental asymptomatic MD. To address this issue, we extensively reviewed the current literature and report our experience with laparoscopic management of an unusual case of MD causing ileal volvulus and acute peritonitis two weeks after a laparoscopic appendectomy for acute gangrenous appendicitis performed in another hospital.

First Clinical Nutrition Outpatient Consultation: A Review of Basic Principles in Nutritional Care of Adults with Hematologic Disease.

Methods: A bibliographic survey was carried out between 2020 and 2022 using two databases: PubMed/MEDLINE and Scientific Electronic Library Online (SciELO) and the information source Academic Google, irrespective of language or geography.

Results: In the first nutrition consultation (FNC), there should be an investigative direction focused on nutritional interventions in the short, medium, and long term. The record in the patient's medical record is relevant for carrying out the consultation, according to the recommendations of the normative councils of medicine and nutrition.

Twenty-four months of follow-up in women with rebound-associated vertebral fractures after discontinuation of denosumab: a single-centre case series.

Unlabelled: Evidence on the management of rebound-associated vertebral fractures after denosumab discontinuation is scarce. This study describes seven patients retreated with denosumab, teriparatide or zoledronate for 24 months. Their bone mineral density remained stable or improved and no new fractures occurred suggesting that all three options might be adequate for their treatment.

A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure.

MECOM-associated syndrome (MECOM-AS) is a rare disease characterized by amegakaryocytic thrombocytopenia, progressive bone marrow failure, pancytopenia and radioulnar synostosis with high penetrance. The clinical phenotype may also include finger malformations, cardiac and renal alterations, hearing loss, B-cell deficiency and predisposition to infections. The syndrome, usually diagnosed in the neonatal period because of severe thrombocytopenia, is caused by mutations in the MECOM gene, encoding for the transcription factor EVI1.

Recent Insights into Pregnancy and Lactation-Associated Osteoporosis (PLO).

During pregnancy and lactation, female physiology adapts to fulfill the fetal and neonatal calcium and phosphorus requirements. The physiological changes that take place during these periods do not affect maternal skeleton resistance to fracture in most of the cases. However, there is a small percentage of women that do experience fragility fractures during these times of life.

A self-repair history: compensatory effect of a variant on the c.2778+83C>G splicing mutation.

Fanconi anemia (FA) is a genome instability condition that drives somatic mosaicism in up to 25% of all patients, a phenomenon now acknowledged as a good prognostic factor. Herein, we describe the case of P1, a FA proband carrying a splicing variant, molecularly compensated by a insertion. Targeted next-generation sequencing on P1's peripheral blood DNA detected the known c.

The use of therapeutic drug monitoring to highlight an over-looked drug-drug interaction leading to imatinib treatment failure.

Background: Chronic oral anticancer therapies, are increasingly prescribed and present new challenges including the enhanced risk of overlooked drug-drug interactions (DDIs). Lengthy treatments and patients' management by different professionals can lead to serious prescribing errors that therapeutic drug monitoring (TDM) can help identifying thus allowing a more effective and safer treatment of patients with polypharmacy.

Objectives: This report aims to exemplify how an intensified pharmacological approach could help in the clinical monitoring of patients on chronic treatments.

Descriptive assessment of 54 cases with complex regional pain syndrome in lower limbs.

Introduction: Complex regional pain syndrome (CRPS), also known as Sudeck syndrome, is a chronic painful condition usually affecting the limbs after trauma or surgery. Its presentation is heterogeneous and its physiopathology, diagnosis and treatment remain controversial. The objective of this study was to analyze a group of patients with this rare syndrome, describing in detail the results of the dual energy X-ray absorptiometry (DXA) and the response to bisphosphonate treatment.