Updates on Triple-Negative Breast Cancer in Type 2 Diabetes Mellitus Patients: From Risk Factors to Diagnosis, Biomarkers and Therapy.

Triple-negative breast cancer (TNBC) is usually the most malignant and aggressive mammary epithelial tumor characterized by the lack of expression for estrogen receptors and progesterone receptors, and the absence of epidermal growth factor receptor (HER)2 amplification. Corresponding to 15-20% of all breast cancers and well-known by its poor clinical outcome, this negative receptor expression deprives TNBC from targeted therapy and makes its management therapeutically challenging. Type 2 diabetes mellitus (T2DM) is the most common ageing metabolic disorder due to insulin deficiency or resistance resulting in hyperglycemia, hyperinsulinemia, and hyperlipidemia.

Favorable outcome of short isoform and mutation in a patient with several adverse prognostic markers: A case report.

Key Clinical Message: Complete molecular remission in a "variant APL" patient with short isoform of and mutation was achieved in response to ATRA and ATO plus IDA instead of standard treatment protocol. The use of inhibitor in APL induction management is implicated to prevent differentiation syndrome and coagulopathy experienced in in patients with

Abstract: mutations are the most common activating mutations in gene, occurring in about 12 to 38% of acute promyelocytic leukemia cases, and are mainly associated with high white blood cell counts and poor clinical outcomes. Here, we present a case of APL variant with adverse prognostic features who showed short isoform [bcr3] of and ITD mutation at diagnosis.

Fatal intracranial haemorrhage in acute promyelocytic leukemia patients with short isoform of PML-RARα: Review of molecular and radiological data.

Three major fusion gene transcripts (long [bcr1], variant [bcr2], and short [bcr3]) are currently used in clinical laboratories for the diagnosis and treatment monitoring of APL patients. Despite highly improved outcome, relapse and intracranial haemorrhage that may lead to early death is still an unsolved complication in APL. We reviewed APL patients confirmed by qPCR for the presence of PML-RARα transcripts (n = 27) and studied their outcome in relation to the isoform expression at diagnosis and follow-up in King Fahad Medical City.

Placental Erythroferrone and Erythropoietin mRNA Expression is not Associated with Maternal or Neonatal Iron Status in Adolescents Carrying Singletons and Adult Women Carrying Multiples.

Background: The iron regulatory hormones erythroferrone (ERFE), erythropoietin (EPO), and hepcidin, and the cargo receptor nuclear receptor coactivator 4 (NCOA4) are expressed in the placenta. However, determinants of placental expression of these proteins and their associations with maternal or neonatal iron status are unknown.

Objectives: To characterize expression of placental ERFE, EPO, and NCOA4 mRNA in placentae from newborns at increased risk of iron deficiency and to evaluate these in relation to maternal and neonatal iron status and regulatory hormones.

Patient-Specific Targeting of the T-Cell Receptor Variable Region as a Therapeutic Strategy in Clonal T-Cell Diseases.

Purpose: Targeted therapeutics are a goal of medicine. Methods for targeting T-cell lymphoma lack specificity for the malignant cell, leading to elimination of healthy cells. The T-cell receptor (TCR) is designed for antigen recognition.

Comprehension of premarital screening and genetic disorders among the population of Riyadh.

Objective: Premarital, unfortunately, does not cover all possible genetic diseases, such as deafness and congenital heart diseases, diabetes mellitus, and hypertension, nor does it cover unknown genetic mutations that may cause severe defects in subsequent generations. However, the Saudi population has limited knowledge regarding premarital screening tests, which do not detect all genetic disorders or diseases. Hence, we aimed to explore the knowledge and attitudes among the population of Riyadh toward premarital screening.

The Epidemiological Pattern, Resistance Characteristics and Clinical Outcome of : Recent Updates and Impact of COVID-19 Pandemic.

Objectives: is an opportunistic organism that causes serious infections, particularly in immuno-compromised and hospitalized patients, along with the emergence of resistance traits. The COVID-19 pandemic has impacted the epidemiological pattern and resistance traits of infections as well as those of other bacteria. The study aims to assess the epidemiological patterns, resistance characteristics and clinical outcomes of in Saudi Arabia and the impact of the COVID-19 pandemic.

Genomic Characterization of Colistin-Resistant Isolates from the King Fahad Medical City, Kingdom of Saudi Arabia.

Background: Whole-genome sequencing is one of the best ways to investigate resistance mechanisms of clinical isolates as well as to detect and identify circulating multi-drug-resistant (MDR) clones or sub-clones in a given hospital setting.

Methods: Here, we sequenced 37 isolates of , 10 , and 5 collected from the biobank of the hospital setting of the King Fahad Medical City. Complete phenotypic analyses were performed, including MALDI-TOF identification and antibiotic susceptibility testing.

Relationship between KIR genotypes and HLA-ligands with SARS-CoV-2 infection in the Saudi population.

Aim: To ascertain whether killer cell immunoglobulin-like receptors (KIR) genes polymorphisms and HLA-I ligands are associated with COVID-19 in Saudi Arabia.

Methods: Eighty-seven COVID-19 patients who tested positive for SARS-CoV-2 and one hundred and fourteen healthy controls were enrolled in this study for genotyping of the 16 KIR genes, HLA-C1 and -C2 allotypes and HLA-G 14-bp indels polymorphisms using the sequence specific primer polymerase chain reaction (SSP-PCR) method. KIR genotype frequency differences and combination KIR-HLA-C ligand were tested for significance.

Development of simple and effective PCR based assay to detect mutation (c.425G > A) among Saudi carriers and functional study of the homozygous mutations.

The aim of this study is to develop a rapid and effective method to screen for Saudi carriers of one of the most common propionic acidemia mutations (c.425G > A) and to study the functional impact of this mutation. Using allele-specific primers, we have developed a qPCR assay that clearly distinguishes heterozygotes from mutated and wild type homozygotes that overcome the dependence on labor-intensive gene sequencing.

Relapsed Angioimmunoblastic T Cell Lymphoma with Fulminant Leukemic Involvement.

BACKGROUND Angioimmunoblastic T cell lymphoma (AITL) is an aggressive and rare entity that comprises about 1-2% of all non-Hodgkin lymphomas. This entity carries many challenges that start at the diagnosis, as most patients present with non-specific symptoms affecting different systems. As a result, the optimal approach, reaching the accurate diagnosis, and delivering needed treatment are delayed.

Forecasting the Post-Pandemic Effects of the SARS-CoV-2 Virus Using the Bullwhip Phenomenon Alongside Use of Nanosensors for Disease Containment and Cure.

The COVID-19 pandemic has the tendency to affect various organizational paradigm alterations, which civilization hasyet to fully comprehend. Personal to professional, individual to corporate, and across most industries, the spectrum of transformations is vast. Economically, the globe has never been more intertwined, and it has never been subjected to such widespread disruption.

Assessing Provider Utilization of COVID-19 Inflammatory Marker Trends in Hospitalized Patients and Implications in Optimizing Value-Based Care During a Pandemic.

Introduction: Numerous inflammatory markers may serve a role in prognostication of patients hospitalized with COVID-19 infection. Early in the pandemic, our health system created an admission order set which included daily d-dimer, c-reactive protein (CRP), lactate dehydrogenase (LDH), and ferritin. Given more available outcomes data, limiting standing order of labs that do not affect daily management could result in significant cost savings to the health system without adverse patient outcomes.

Atypical presentation of adenosine deaminase 2 deficiency with bi-allelic ADA2 mutation.

Herein, we report a case of VAIHS with atypical clinical presentation of perianal abscess, fistula fever, and bi-cytopenia including pathogenic ADA2 mutation suggesting that ADA2 deficiency be considered as a differential diagnosis of enlarging cutaneous abscess with no evidence of wound healing in the setting of leukopenia and neutropenia.

Evaluation of the Levels of Peripheral CD3, CD4, and CD8 T Cells and IgG and IgM Antibodies in COVID-19 Patients at Different Stages of Infection.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection affects the stimulatory levels of cellular-mediated immunity, which plays an essential role in controlling SARS-CoV-2 infection. In fact, several studies have shown the association of lymphopenia with severe COVID-19 in patients. The aim of this study is to investigate the response of the immune system, including cell-mediated immunity and antibody production, during different stages of SARS-CoV-2 infection.

Association between proteinuria and placental pathology in preeclampsia: A retrospective study.

Introduction: Preeclampsia develops due to placental insufficiency and systemic proinflammatory and antiangiogenic mediator release, with ensuing systemic endothelial dysfunction. Nephrotic-range proteinuria appears to be associated with worse pregnancy outcomes. The relationship between differing degrees of proteinuria and the severity of placental alterations has not been studied.

Placental Iron Content Is Lower than Previously Estimated and Is Associated with Maternal Iron Status in Women at Greater Risk of Gestational Iron Deficiency and Anemia.

Background: Based on limited data, it is estimated that the placenta retains 90 mg of iron. Little is known about determinants of placental iron content. Animal data indicate that the placenta prioritizes iron for its own needs, but this hypothesis has not been evaluated in humans.

Elevated Expression Levels of Lung Complement Anaphylatoxin, Neutrophil Chemoattractant Chemokine IL-8, and RANTES in MERS-CoV-Infected Patients: Predictive Biomarkers for Disease Severity and Mortality.

The complement system, a network of highly-regulated proteins, represents a vital part of the innate immune response. Over-activation of the complement system plays an important role in inflammation, tissue damage, and infectious disease severity. The prevalence of MERS-CoV in Saudi Arabia remains significant and cases are still being reported.

Clinical laboratory services for primary healthcare centers in urban cities: a pilot ACO model of ten primary healthcare centers.

Background: Primary healthcare centers (PHC) ensure that patients receive comprehensive care from promotion and prevention to treatment, rehabilitation, and palliative care in a familiar environment. It is designed to provide first-contact, continuous, comprehensive, and coordinated patient care that will help achieve equity in the specialty healthcare system. The healthcare in Saudi Arabia is undergoing transformation to Accountable Care Organizations (ACO) model.

Diagnosing Coeliac Disease During Mass-Screening of General Paediatric Population: Is Biopsy Avoidable?

Objectives: Studies evaluating the correlation between tissue transglutaminase immunoglobulin antibody (TGA-IgA) levels and the degree of enteropathy in screening-detected coeliac disease (CD) patients from the general childhood population are scarce. The objectives of our study were to evaluate the correlation between the TGA-IgA titre and the degree of enteropathy and to evaluate whether the no-biopsy approach to diagnose CD in symptomatic patients proposed by the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition could be extended to asymptomatic CD patients diagnosed during mass screening studies.

Methods: The present study is a sub-study of a cross-sectional mass screening study, "Exploring the Iceberg of Coeliacs in Saudi Arabia", conducted among school-aged children (6-15 years) in 2014-2015.