Challenges in Diagnosing Adolescent Goiter: A Case Report with Brief Literature Insights in Juvenile Desmoid-Type Fibromatosis of the Thyroid Gland.

The prevalence of goiter, thyroid nodules, and thyroid cancers in the pediatric population has increased. In some rare cases, local conditions such as juvenile desmoid-type fibromatosis (JDTF) can mimic specific thyroid pathology, complicating the diagnostic process. A 17-year-old obese adolescent girl was admitted to the Endocrinology Department with progressive swelling on the left side of the neck, persisting for approximately one year, recently accompanied by dysphonia and inspiratory dyspnea, and ultimately diagnosed as a unilateral nodular goiter associated with compressive phenomena.

Long COVID in Children and Adolescents: Mechanisms, Symptoms, and Long-Term Impact on Health-A Comprehensive Review.

Long COVID, also known as post-acute sequelae of SARS-CoV-2 infection (PASC), is increasingly recognized as a condition affecting not only adults but also children and adolescents. While children often experience milder acute COVID-19 symptoms compared to adults, some develop persistent physical, psychological, and neurological symptoms lasting for weeks or months after initial infection. The most commonly reported symptoms include debilitating fatigue, respiratory issues, headaches, muscle pain, gastrointestinal disturbances, and cognitive difficulties, which significantly impact daily activities, schooling, and social interactions.

Evaluating Neutrophil Gelatinase-Associated Lipocalin in Pediatric CKD: Correlations with Renal Function and Mineral Metabolism.

Background: Pediatric chronic kidney disease (CKD) requires reliable biomarkers for early detection and monitoring. Neutrophil gelatinase-associated lipocalin (NGAL) has emerged as a potential marker due to its responsiveness to renal impairment and involvement in mineral metabolism.

Objectives: To evaluate serum NGAL levels in pediatric CKD patients and explore correlations with estimated glomerular filtration rate (eGFR), ferritin, calcium-phosphorus (Ca*P) product, and total serum protein.

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.

Lymphatic Disorder Management in Pediatric Patients With Congenital Heart Disease in European Pediatric Cardiology Centers: Current Status, Disparities, and Future Considerations.

Background: Lymphatic disorders such as protein-losing enteropathy, plastic bronchitis, and chylothorax are important complications of the Fontan circulation and ultimately result in an increased risk of early death. Several European centers are now performing lymphatic procedures. The aim of this study is to map the extent of these lymphatic disorders and treatments provided across European pediatric cardiology centers.

Identification of Specific Plasma miRNAs as Potential Biomarkers for Major Depressive Disorder.

Backround: Depression is a significant concern in clinical and preclinical psychoneurobiological sciences due to its high prevalence and its individual and collective consequences. Identifying efficient biomarkers for accurate diagnosis is crucial, with ideal biomarkers having detectable serum levels and conformational and thermal stability. This study aims to identify stable plasma biomarkers for the diagnosis and prognosis of major depressive disorder, as the pathogenesis of the disorder remains incompletely understood, affecting diagnosis accuracy.

Assessing Differential Transfusion Requirements for Children with Congenital Malformations vs. Pediatric Acute Abdomen Emergencies.

Background And Objectives: This retrospective study aimed to evaluate the efficacy of preoperative blood transfusions in correcting anemia for pediatric patients with congenital malformations (CMs) versus those with acute abdomen (AA) conditions. The study hypothesized that the response to transfusions might vary significantly between these groups due to the differences in the underlying pathology and clinical status.

Methods: The study included 107 pediatric patients admitted to Timisoara 'Louis Turcanu' Emergency Hospital for Children between January 2015 and May 2023, who required blood transfusions for preoperative anemia.

Emergency-Driven Multiple Simultaneous Invasive Procedures in Haemophilia.

Despite the controversies regarding the appropriateness and justification of simultaneous bi- and multi-concomitant surgical procedures, this operative technique is increasingly undertaken for economic reasons. This paper discusses three cases of simultaneous interventions: two involving osteoarticular procedures and one involving a complex approach encompassing general and plastic surgery. The indications in emergency-driven cases are mandatory, life-saving, and limb-saving, and not subject to debate.

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.

Bacterial Resistances and Sensibilities in a Tertiary Care Hospital in Romania-A Retrospective Analysis.

The increase in bacterial resistance is currently a global burden for the health care system. In order to evaluate the resistance rates of several bacteria from the most encountered cultures in clinical practice, we performed a retrospective analysis of all of the positive cultures from the year 2021 in a tertiary care hospital in Romania. Our analysis captured 3299 positive cultures.

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.

Predicting Retinopathy of Prematurity Risk Using Plasma Levels of Insulin-like Growth Factor 1 (IGF1), Tumor Necrosis Factor-Alpha (TNF-Alpha), and Neonatal Parameters.

Background/objectives: Retinopathy of Prematurity (ROP) remains a leading cause of vision impairment in premature infants, especially those with Respiratory Distress Syndrome (RDS) necessitating respiratory support. This study aimed to identify correlations between plasma levels of Insulin-like Growth Factor 1 (IGF1) and Tumor Necrosis Factor-alpha (TNF-alpha), and the risk of developing ROP. Additionally, it explored the association of ROP severity grades with plasma levels of glucose, lactate dehydrogenase (LDH), creatin phosphokinase (CPK), and other biomarkers, aiming to uncover predictive markers for ROP risk and severity in this population.

Evaluating Family Coping Mechanisms in Pediatric Seizure Disorders: From Emergency Room to Long-Term Follow-Up.

Pediatric seizure disorders profoundly impact family dynamics, often escalating stress and impairing coping mechanisms. This study aimed to longitudinally assess the impact of pediatric seizures on family stress and coping, evaluating the efficacy of multidisciplinary follow-up care in enhancing psychological resilience and adaptation. A longitudinal study design was implemented, enrolling children aged 1-18 who presented with a first seizure and received a neurologist's diagnosis at the Emergency Clinical Hospital for Children "Louis Turcanu," Timisoara, Romania.

Evaluating Therapy and Growth in Children with Phenylketonuria: A Retrospective Longitudinal Study from Two Romanian Centers.

: Phenylketonuria (PKU) is a rare genetic disorder characterized by the inability to convert the essential amino acid phenylalanine into tyrosine. Early dietary treatment can successfully prevent complications, but controversies still exist regarding the attainment of normal growth in these patients. : Eighteen patients with PKU from two Romanian reference centers were compared to eighteen non-PKU controls, matched for age and gender.

Dentigerous Cysts in Children: Clinical, Radiological, and Healing Aspects.

: Dentigerous cysts are one of the most frequent pathologies associated with unerupted or impacted teeth. Such cysts show a male predilection and a preference for the mandibular region. Also, they commonly occur in the second and third decades of life, with only 9% occurring in the first decade.

Enhancing Early Detection of Sepsis in Neonates through Multimodal Biosignal Integration: A Study of Pulse Oximetry, Near-Infrared Spectroscopy (NIRS), and Skin Temperature Monitoring.

Sepsis continues to be challenging to diagnose due to its non-specific clinical signs and symptoms, emphasizing the importance of early detection. Our study aimed to enhance the accuracy of sepsis diagnosis by integrating multimodal monitoring technologies with conventional diagnostic methods. The research included a total of 121 newborns, with 39 cases of late-onset sepsis, 35 cases of early-onset sepsis, and 47 control subjects.

Advanced Echocardiography Assessment in the Management of Alcapa Syndrome: Case Report.

Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare and potentially life-threatening condition affecting infants that requires immediate corrective surgery to restore blood flow to the myocardium. We present a case of an infant with ALCAPA and severe heart failure. What sets this case apart is the utilization of speckle-tracking echocardiography as a non-invasive method for assessing global and regional myocardial function before and after surgical intervention.

D-dimer as a Useful Biomarker in Early Diagnosis of Neonatal Sepsis: A Single-Center Study From Romania.

Background: This study evaluates the role of D-dimer in identifying neonatal sepsis and their potential value in clinical decision-making due to challenges in early detection.

Methodology: A case-control study was conducted on 102 neonates at the Children's Clinical Hospital "Louis Turcanu" in Timisoara, Romania, from October 2018 to July 2023. The participants were divided into two groups: those with neonatal sepsis and those without sepsis.