The Impact of Infectious Diseases on Clinical Characteristics and Immunological Correlations in Pediatric Henoch-Schönlein Purpura: A Five-Year Retrospective Study.

Immunoglobulin A (IgA) vasculitis (IgAV), classically known as Henoch-Schönlein purpura (HSP), is a type of nonthrombocytopenic small-vessel vasculitis. HSP is the most frequent kind of systemic vasculitis in children, characterized by purpura, arthritis or arthralgia, gastrointestinal pain, and kidney dysfunction. The aim of our research was to investigate and observe the clinical characteristics of children diagnosed with HSP and to explore the correlation between infectious diseases and HSP.

Hemogram-Based Phenotypes of the Immune Response and Coagulopathy in Blunt Thoracic Trauma.

: Blunt thoracic trauma possesses unique physiopathological traits due to the complex interaction of immune and coagulation systems in the lung tissue. Hemogram-based ratios such as neutrophil-to-lymphocyte (NLR), platelet-to-lymphocyte (PLR), neutrophil-to-lymphocyte × platelet (NLPR) ratios have been studied as proxies for immune dysregulation and survival in trauma. We hypothesized that blunt thoracic trauma patients exhibit distinct patterns of coagulation and inflammation abnormalities identifiable by the use of readily available hemogram-derived markers.

Persistent Müllerian Duct Syndrome with Supernumerary Testicles Due to a Novel Homozygous Variant in the Gene and Literature Review.

: Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) caused by mutations in the genes coding anti-Müllerian hormone (AMH) or the AMH receptor, characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. Testicular regression syndrome is common in PMDS, yet the association with supernumerary testis has been reported in only two patients where genetic testing was not performed. : Thus, we report an individual with this particular association caused by a previously unreported homozygous variant in the gene to enable future genotype-phenotype correlations in this rare disorder.

Dopaminergic Epistases in Schizophrenia.

The dopaminergic theory, the oldest and most comprehensively analyzed neurotransmitter theory of schizophrenia, remains a focal point of research. This systematic review examines the association between combinations of 14 dopaminergic genes and the risk of schizophrenia. The selected genes include dopamine receptors (DRD1-5), metabolizing enzymes (COMT, MAOA, MAOB, DBH), synthesizing enzymes (TH, DDC), and dopamine transporters (DAT, VMAT1, and VMAT2).

In silico splicing analysis of the PMS2 gene: exploring alternative molecular mechanisms in PMS2-associated Lynch syndrome.

Lynch syndrome (LS) is one of the most common hereditary cancer syndrome in human populations, associated with germline variants in MLH1, MSH2/EPCAM, MSH6 and PMS2 genes. The advent of next generation sequencing has proven a significant impact in germline variant detection in the causative genes; however, a large proportion of patients with clinical criteria still receive uncertain or negative results. PMS2 is the least frequent reported gene, associated with up to 15% of LS cases with late-onset disease and low penetrance phenotype; however, the proportion of PMS2-LS cases is considered to be highly underestimated.

Hydatid Cysts of the Psoas Muscle: Insights from the Past Five Years.

Echinococcosis represents a major public health issue and continues to be endemic in various regions around the world. Hydatid cysts are commonly located in the liver (primary site), followed by the lungs (secondary site). However, they are also found in less typical organs such as the spleen, kidneys, peritoneum, retroperitoneum, pancreas, gallbladder, and various other organs, as well as in striate muscles.

Mechanisms of Resistance to Rituximab Used for the Treatment of Autoimmune Blistering Diseases.

Autoimmune blistering diseases represent a group of chronic severe, disabling, and potentially fatal disorders of the skin and/or mucous membranes, primarily mediated by pathogenic auto-antibodies. Despite their rarity, these diseases are associated with significant morbidity and mortality and profound negative impact on the patient's quality of life and impose a considerable economic burden. Rituximab, an anti-CD-20 monoclonal antibody, represents the first line of therapy for pemphigus, regardless of severity and a valuable off-label therapeutic alternative for subepidermal autoimmune blistering diseases as it ensures high rates of rapid, long-lasting complete remission.

Factors Associated with Postoperative Complications After Congenital Duodenal Obstruction Surgery: A Retrospective Study.

Duodenal atresia and stenosis are common causes of intestinal obstruction. Associated anomalies significantly influence early postoperative mortality, while postoperative complications impact long-term survival. Over a 13-year period from January 2010 to August 2023, a total of 74 infants and children with congenital duodenal obstruction were treated at "Grigore Alexandrescu" Children's Emergency Hospital and met the inclusion criteria.

Quality of Life Assessment in Romanian Patients with Spinal Muscular Atrophy Undergoing Nusinersen Treatment.

Spinal muscular atrophy (SMA), identified over a century ago, is characterized by severe muscle wasting and early mortality. Despite its rarity, the high carrier frequency of the responsible genetic mutations and the variability in its manifestations make it a significant research focus. This prospective cross-sectional descriptive study evaluated health-related quality of life (HRQoL) across eight health domains in 43 Romanian SMA patients treated with nusinersen, using the SF-36 questionnaire to analyze influencing factors.

Comparison between Conventional and Simple Measuring Methods of Mean Nocturnal Baseline Impedance in Pediatric Gastroesophageal Reflux Disease.

(1) Background: Multichannel intraluminal impedance-pH (MII-pH) monitoring is commonly used to diagnose gastroesophageal reflux disease (GERD). The mean nocturnal baseline impedance (MNBI) is an important parameter, reflecting the esophageal mucosal integrity and improvement in GERD. This study aims to evaluate the correlation between conventionally measured MNBI and a recently described simple MNBI measurement method in diagnosing pediatric GERD.

Enhanced Immunohistochemistry Interpretation with a Machine Learning-Based Expert System.

Background: In recent decades, machine-learning (ML) technologies have advanced the management of high-dimensional and complex cancer data by developing reliable and user-friendly automated diagnostic tools for clinical applications. Immunohistochemistry (IHC) is an essential staining method that enables the identification of cellular origins by analyzing the expression of specific antigens within tissue samples. The aim of this study was to identify a model that could predict histopathological diagnoses based on specific immunohistochemical markers.

Impact of CFTR Modulator Therapies on Liver Function in Cystic Fibrosis Patients: A Systematic Review of Hepatic Biomarkers.

Background And Aims: Cystic fibrosis transmembrane conductance regulator (CFTR) modulators, including elexacaftor/ivacaftor/tezacaftor (ETI) and lumacaftor/ivacaftor (LI), have revolutionized the treatment of cystic fibrosis. However, their impact on liver function remains unclear, with varying effects reported across studies. The aim of this study was to systematically review the effects of CFTR modulators on liver function in cystic fibrosis patients by evaluating changes in key hepatic biomarkers.

A Comprehensive Review on the Intricate Interplay between COVID-19 Immunization and the New Onset of Pemphigus Foliaceus.

Autoimmune bullous diseases (AIBDs) are characterized by the formation of vesicles, bullous lesions, and mucosal erosions. The autoantibodies target the cellular anchoring structures from the surface of epidermal keratinocyte named desmosomes, leading to a loss of cellular cohesion named acantholysis. AIBDs are classified into intraepidermal or subepidermal types based on clinical features, histological characteristics, and immunofluorescence patterns.

Patterns and Emerging Trends in Acute Poisoning with Substances of Abuse Used for Recreational Purposes in Adolescents: A Six-Year Multicentre Study.

This six-year multicentre study investigated acute intentional poisoning with substances of abuse in adolescents to identify changes and patterns in substance use. Data from 562 adolescents were collected from three paediatric poison centres in Romania between January 2017 and December 2022. This study analysed the epidemiological and sociodemographic characteristics of the adolescents, including age, gender, place of residence, history of substance abuse, psychiatric history, and history of institutionalised care.

Use of a Micronutrient Cocktail to Improve Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) in Adults with Obesity: A Randomized, Double-Blinded Pilot Clinical Trial.

: The goal of this study was to assess the impact of supplementation with a combination of nutrients on metabolic-dysfunction-associated steatotic liver disease (MASLD)-related liver parameters, and other parameters related to metabolic syndrome in adults with obesity. These measurements included anthropometric and lipid profiling, and FibroScan technology (controlled attenuation parameter (CAP) and transient elastography (TE) values). A double-blind, placebo-controlled pilot clinical trial was conducted over a three-month treatment period.

Inside the Hospitalization Voyage of Schizophrenia Care: A Single-Center Journey.

Schizophrenia poses significant challenges for individuals and caregivers, often leading to recurrent hospitalizations. Limited information on patients with schizophrenia and multiple hospitalizations in Romania is available in the scientific literature. Our study aimed to evaluate the characteristics of patients with schizophrenia with multiple hospitalizations in a single center in Cluj-Napoca, analyzing if specific patterns exist between patients with two or more hospitalizations or between men and women.

In Vitro Biological Evaluation of an Alginate-Based Hydrogel Loaded with Rifampicin for Wound Care.

We report a biocompatible hydrogel dressing based on sodium alginate-grafted poly(N-vinylcaprolactam) prepared by encapsulation of Rifampicin as an antimicrobial drug and stabilizing the matrix through the repeated freeze-thawing method. The hydrogel structure and polymer-drug compatibility were confirmed by FTIR, and a series of hydrogen-bond-based interactions between alginate and Rifampicin were identified. A concentration of 0.

Beyond Trauma-Induced Coagulopathy: Detection of Auto-Heparinization as a Marker of Endotheliopathy Using Rotational Thromboelastometry.

: The complexity of trauma-induced coagulopathy (TIC) is a result of the unique interactions between the patient, trauma, and resuscitation-related causes. The main objective of trauma resuscitation is to create the optimal milieu for both the development of immediate reparatory mechanisms and the prevention of further secondary injuries. Endotheliopathy represents one of the hallmarks of trauma-induced coagulopathy, and comprises endothelial dysfunction, abnormal coagulation, and inflammation, all of which arise after severe trauma and hemorrhagic shock.

Revolutionizing Pathology with Artificial Intelligence: Innovations in Immunohistochemistry.

Artificial intelligence (AI) is a reality of our times, and it has been successfully implemented in all fields, including medicine. As a relatively new domain, all efforts are directed towards creating algorithms applicable in most medical specialties. Pathology, as one of the most important areas of interest for precision medicine, has received significant attention in the development and implementation of AI algorithms.

Platelet Contribution and Endothelial Activation and Stress Index-Potential Mortality Predictors in Traumatic Brain Injury.

Coagulopathy and traumatic brain injury (TBI) are complexly intertwined. In isolated TBI, coagulopathy may contribute to hemorrhagic lesion development, progression, or recurrence, as it may lead to a particular pattern of coagulopathy called TBI-induced coagulopathy (TBI-IC). We performed a retrospective and descriptive evaluation of 63 patients admitted to the Emergency Clinical Hospital Bucharest with the diagnosis of moderate/severe brain injury.

Utility of the Post-Reflux Swallow-Induced Peristaltic Wave Index and Mean Nocturnal Baseline Impedance for the Diagnosis of Gastroesophageal Reflux Disease Phenotypes in Children.

(1) Objectives: Assessment of novel impedance parameters such as the post-reflux swallow-induced peristaltic wave (PSPW) index and mean nocturnal baseline impedance (MNBI) have been proposed to enhance the accuracy of gastroesophageal reflux disease (GERD) diagnosis. We aimed to evaluate the clinical value of MNBI and the PSPW index in discerning different phenotypes of GERD in children. (2) Methods: We conducted a prospective, observational study that included 49 children aged 5-18 years, referred for MII-pH monitoring due to negative endoscopy and persisting gastroesophageal reflux symptoms despite acid-suppressant treatment.

Laboratory features in acute paediatric poisoning with liquid laundry detergent capsules: a seven-year retrospective study in Romania.

Introduction: The epidemiological and clinical characteristics of acute poisoning with liquid laundry detergent capsules have been comprehensively reported. However, studies of laboratory test results in these exposures are uncommon. This study analyzed the impact of the ingestion of liquid laundry detergent capsules on admission laboratory tests in paediatric patients.