Variable Clinical Presentation Research Articles

Outcomes of electrical injuries in the emergency department: epidemiology, severity predictors, and chronic sequelae.

Electrical injuries (EIs) represent a significant clinical challenge due to their complex pathophysiology and variable presentation, ranging from minor burns to severe internal organ damage. Despite their prevalence in both; domestic and occupational settings, there remains a rareness of systematic guidelines and comprehensive literature to aid clinicians in effectively managing these injuries. Understanding these factors is crucial for developing protocols that can mitigate the risk of delayed complications, such as cardiac arrhythmias, in patients who initially appear stable. This study aims to elucidate the epidemiology, clinical outcomes, and predictors of severe presentation in EIs, providing insights to improve patient assessment and management strategies. A retrospective study was conducted over 4 years. Data were collected from standardized medical records. The group of patients with severe complications included those who presented a life-threatening cardiac, respiratory, neurological, or biological impairment or died within the first 48 h of the EI. We enrolled 118 cases of electrical injury (EI). Ages ranged from 4 to 82 years, with 31.3% under 15. EI incidence peaked in summer, with 63.5% being home accidents. High-voltage injuries occurred in 13.6%. The most common ED complaints were burns in children (59.5%) and trauma in adults (48.1%). ECG abnormalities correlated with tetany (p = 0.016), and palpitations (p = 0.014). Complications included cardiac arrest (n = 8), rhabdomyolysis (n = 23), and acute renal injury (n = 9). Severe EI was linked to respiratory distress and creatine kinase levels higher than ≥ 253 UI/l. A normal ECG within 1 h post-injury was correlated to a low risk of severe EI. At 2-year follow-up, 43.9% of survivors reported aesthetic sequelae, 25.3% had psychological disorders, and 7% of adults could not return to their previous occupations. EIs are frequent, with diverse clinical presentations requiring multidisciplinary care. Awareness of potential delayed complications is essential, and prevention is crucial.

Clinical manifestations in Egyptian Pompe disease patients: Molecular variability and enzyme replacement therapy (ERT) outcomes

BackgroundPompe disease is a rare genetic disorder caused by a deficiency of the enzyme acid alpha-glucosidase. This condition leads to muscle weakness, respiratory problems, and heart abnormalities in affected individuals.MethodsThe aim of the study is to share our experience through cross sectional study of patients with infantile-onset Pompe disease (IOPD) with different genetic variations, resulting in diverse clinical presentations. We evaluated their phenotype, genotype, radiological and laboratory findings including their cross-reactive immunologic material (CRIM) status. Infantile Pompe disease was diagnosed by measurement of the activity of the enzyme alpha-glucosidase. The diagnosis was confirmed by molecular genetic testing using PCR amplification and sequencing of the acid alpha-glucosidase (GAA) gene. Routine two-D echocardiography, and multi-parametric ECG-gated cardiac magnetic resonance imaging (CMR) were done to patients six months after starting enzyme replacement therapy (ERT).ResultsThe results of our study revealed different genetic mutations among our patients, different CRIM status and also CMR abnormalities. CMR imaging revealed abnormalities in all cases that underwent the procedure, including myocardial and vascular changes, with feature tracking indicating issues across all parameters and LGE suggesting fibrosis. The patient with a positive immune response had the most severe cardiac abnormalities, despite improvements in muscle weakness and motor skills from ERT. This underscores that delayed diagnosis and ERT can lead to irreversible heart damage from autophagy buildup.ConclusionPompe disease has various clinical presentations and results in significant CMR findings, which can be attributed to different genetic mutations. Early initiation of enzyme replacement therapy in infantile-onset Pompe disease is important to maximize its benefits.

A PARK7 Mutation-Induced Early-Onset Parkinson's Disease in a Moroccan Family: Expanding the Geographic Spectrum.

Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by motor and nonmotor symptoms, with a significant genetic component. Early-onset Parkinson's disease (EOPD), manifesting before age 45, is often linked to mutations in genes such as PARK2, PINK1, and PARK7, the latter coding for the protein DJ-1. We present the first reported cases of EOPD carrying a previously undescribed homozygous PARK7 mutation, p.Thr110Pro. Whole exom sequencing was performed on two inbred Moroccan siblings with early-onset Parkinson's disease (EOPD). Detailed clinical assessments, including neurological evaluations and cognitive testing, were conducted to understand the clinical presentation of the patients. Genetic analysis was also carried out to examine their genetic background. Therapeutic responses to treatments were monitored to assess the effectiveness of management strategies. The sequencing revealed that both siblings carried the homozygous PARK7 mutation, p.Thr110Pro. Both siblings presented with typical EOPD features, including motor and non-motor symptoms. The patients both presented with cognitive impairment, with the male sibling exhibiting more pronounced symptoms. He also developed compulsive behaviors, which underscore the varied clinical presentations and therapeutic responses associated with this genetic variant. This case study expands the genetic and geographic diversity of PD presentations, highlighting cognitive and behavioral challenges and variable therapeutic outcomes. It underscores the necessity for genetic screening and individualized management strategies for patients with PD.

Targeted Complement Treatments in Glomerulopathies: A Comprehensive Review

The complement system includes soluble and cell surface proteins and is an important arm of the innate immune system. Once activated, the complement system rapidly generates proteins with inflammatory and vasoactive activities. Although complement is crucial to host defense and homeostasis, its inappropriate or uncontrolled activation can also drive tissue injury. Glomerulopathy encompasses a spectrum of diseases with diverse etiologies, clinical presentations, and outcomes. Among the intricate web of factors contributing to glomerulopathies pathogenesis, the role of complement activation has emerged as a focal point of research interest and therapeutic intervention. The pioneer drug was eculizumab, which made it possible to drastically change the prognosis of atypical hemolytic uremic syndrome, an otherwise fatal disease. This comprehensive review aims to elucidate the multifaceted interplay between complement pathways and glomerulopathies, shedding light on potential pathways for targeted therapies and improved patient care.

Clinical Spectrum of Orbital Cellulitis: Case Series From Subperiosteal Abscess to Life-Threatening Cavernous Sinus Thrombosis

Background: Orbital cellulitis encompasses a range of orbital infections with varying severity. This case series highlights the diverse clinical presentations, management strategies, and outcomes of orbital cellulitis, emphasizing the importance of prompt diagnosis and treatment. Case presentation: We present two cases of orbital cellulitis with contrasting presentations. The first case involved a 16-year-old male with acute rhinosinusitis who developed severe orbital cellulitis complicated by cavernous sinus thrombosis (CST), requiring aggressive medical and surgical interventions. The second case involved a 2-month-old female with a subperiosteal abscess secondary to ethmoid and maxillary sinusitis, who responded well to medical management alone. Conclusion: Orbital cellulitis presents a wide spectrum of clinical scenarios, ranging from localized infections to life-threatening intracranial involvement. Early recognition, appropriate imaging, and timely intervention are crucial for optimizing outcomes. While CST necessitates aggressive measures, subperiosteal abscesses can often be managed medically, particularly in young children.

Peripheral T-Cell Lymphoma-NOS in Children and Adolescents: a Review from the Children's Oncology Group NHL Committee.

Peripheral T-cell lymphoma-not otherwise specified (PTCL-NOS) is a rare mature T-cell non-Hodgkin lymphoma (NHL) seen in both children and adults. While it is the most common non-anaplastic mature T-cell lymphoma of childhood, it is quite rare and therefore, the standard of care remains largely undefined. It is a disease characterized by clinical and pathological heterogeneity and is generally associated with an aggressive clinical course and poor prognosis in adults. Retrospective reports on treatment outcomes for pediatric PTCL-NOS are limited by small cohorts, variable clinical presentations, and heterogeneous treatment regimens. Though published survival rates in children appear encouraging compared to those from prospective studies in adults, the prognosis is guarded, and relatively low curative outcomes are in stark contrast to more common pediatric NHL. While recent landmark gene profiling studies have shed light on the molecular landscape of the disease in adults-identifying molecular subgroups with prognostic significance-the biology of PTCL-NOS remains unclear in children. Here we review the clinical presentation and diagnosis, historical treatment approaches, current knowledge of the disease biology and the role of hematopoietic stem cell transplant (HSCT) in PTCL-NOS in children to pursue a better understanding of this heterogenous condition and empower physicians to use this information to best support our pediatric population. Studies focusing on pediatric PTCL-NOS are required to unravel the disease biology in children, improve risk stratification, and better define upfront treatment through the role of targeted agents and HSCT, as we look to future directions of the care of children with PTCL-NOS.

Refining the clinical and therapeutic spectrum of granulomatous myositis from a large cohort of patients.

Granulomatous myositis (GM) is a rare entity whose precise clinical features and therapeutic outcomes have not yet been well defined. Given the limited evidence, data from a large cohort of patients is needed to aid in the recognition and management of this condition. We retrospectively analyzed our institutional databases to identify patients who had myositis and non-caseating granuloma on muscle biopsy (GM). We collected data on clinical and diagnostic features, management, and outcomes of these cases and compared them with inclusion body myositis (IBM) controls. 22 GM patients were identified and subdivided into 3 main groups:13 patients with GM and sarcoidosis (6 of whom subsequently developed suspected or confirmed IBM), 7 patients with idiopathic isolated GM (2 of whom subsequently developed confirmed IBM), 2 patients with GM and Crohn's disease. Patients with GM and sarcoidosis without IBM, as well as patients with isolated GM, exhibited variable clinical presentation ranging from myalgia to mostly symmetrical proximo-distal weakness, with most showing complete or at least partial response to therapies. Patients with GM associated with Crohn's disease had only mild clinical impairment and good therapeutic outcomes. Conversely, patients with GM and IBM presented more severe asymmetric proximo-distal muscle weakness, increased occurrence of dysphagia and poor treatment response, similar to IBM controls. A frequent association of GM with IBM and/or sarcoidosis was demonstrated in our cohort. When associated with IBM, GM led to treatment refractoriness and more severe clinical impairment, unlike the other GM groups which showed satisfactory outcomes in most cases.

The evolving therapeutic landscape in atopic dermatitis

Atopic dermatitis (AD) is a prevalent chronic inflammatory skin disorder affecting millions worldwide, with significant variations in clinical presentation influenced by socioeconomic, racial, and environmental factors. This review explores the current understanding of AD pathophysiology, emphasizing immune dysregulation, epithelial barrier dysfunction, and the role of cytokines, particularly interleukin (IL)-4 and IL-13, in disease progression. Safety and efficacy concerns limit traditional corticosteroids, phototherapy, and systemic immunosuppressants, prompting interest in innovative therapies. New biologic agents, including monoclonal antibodies (mAbs) and Janus kinase (JAK) inhibitors (JAKis), target specific immune pathways, promising outcomes in moderate-to-severe AD cases. Biologics like dupilumab and emerging JAKis have shown substantial efficacy and safety in clinical trials, with notable reductions in inflammation and pruritus. However, these advancements present challenges, including hypersensitivity risks and the high costs of biologics, underscoring the need for further research on long-term safety and accessibility. The shift toward precision medicine in AD management marks a significant evolution, with future approaches likely to integrate targeted therapies alongside multidisciplinary care to enhance patient outcomes and quality of life (QoL).

Vulvar Porocarcinoma with Inguinal Nodal Recurrence: A Case Report

Introduction: Porocarcinoma (PC) is an uncommon, aggressive malignancy of the sweat gland apparatus characterized by diverse clinical presentation and challenging histopathology. Patients diagnosed with PC face a grim prognosis due to high rates of recurrence and metastasis. Case Report: We present a case of a vulvar porocarcinoma initially managed by surgical excisions, achieving clear margins. Subsequent surveillance revealed regional lymph node metastasis, prompting lymph node dissection. Discussion: Here, we highlight the difficulty in recognizing and managing PC. While surgical excision remains the mainstay of treatment, there exists no consensus on adjuvant therapies and the role of sentinel lymph node biopsy at diagnosis. Given its rarity, diagnostic complexities, and aggressive behavior, PC warrants a collaborative approach to maximize patient outcomes.

Three-year course of clinical high-risk symptoms for psychosis in the community: a latent class analysis.

Clinical high-risk for psychosis (CHR-P) states exhibit diverse clinical presentations, prompting a shift towards broader outcome assessments beyond psychosis manifestation. To elucidate more uniform clinical profiles and their trajectories, we investigated CHR-P profiles in a community sample. Participants (N=829; baseline age: 16-40years) comprised individuals from a Swiss community sample who were followed up over roughly 3 years. latent class analysis was applied to CHR-P symptom data at baseline and follow-up, and classes were examined for demographic and clinical differences, as well as stability over time. Similar three-class solutions were yielded for both time points. Class 1 was mainly characterized by subtle, subjectively experienced disturbances in mental processes, including thinking, speech and perception (basic symptoms [BSs]). Class 2 was characterized by subthreshold positive psychotic symptoms (i.e., mild delusions or hallucinations) indicative of an ultra-high risk for psychosis. Class 3, the largest group (comprising over 90% of participants), exhibited the lowest probability of experiencing any psychosis-related symptoms (CHR-P symptoms). Classes 1 and 2 included more participants with functional impairment and psychiatric morbidity. Class 3 participants had a low probability of having functional deficits or mental disorders at both time points, suggesting that Class 3 was the healthiest group and that their mental health and functioning remained stable throughout the study period. While 91% of Baseline Class 3 participants remained in their class over time, most Baseline Classes 1 (74%) and Class 2 (88%) participants moved to Follow-up Class 3. Despite some temporal fluctuations, CHR-P symptoms within community samples cluster into distinct subgroups, reflecting varying levels of symptom severity and risk profiles. This clustering highlights the largely distinct nature of BSs and attenuated positive symptoms within the community. The association of Classes 1 and 2 with Axis-I disorders and functional deficits emphasizes the clinical significance of CHR-P symptoms. These findings highlight the need for personalized preventive measures targeting specific risk profiles in community-based populations.

Sickle Cell Anemia and Inflammation: A Review of Stones and Landmarks Paving the Road in the Last 25 Years.

A quarter of a century ago, sickle cell disease (SCD) was mainly viewed as a typical genetic disease inherited as a classical Mendelian trait. Therefore, the main focus concerning SCD was on diagnosis, meaning, genotyping, and identification of homozygous and heterozygous individuals carrying the relevant HbS mutant allele. Nowadays, it is well established that sickle cell disease is indeed the result of homozygosis for the HbS variant, although this single feature is not capable of explaining the highly diverse clinical presentation of SCD. In fact, an important feature of SCD is the chronic inflammation that accompanies the sickling of erythrocytes. In this manuscript, we will revisit the early evidence of inflammation in SCD and review what was uncovered during the last 25 years. Here, we describe Sickle cell anemia as a major participant in the history of science. In fact, SCD was the first genetic disease where the causal mutation was identified and is also the first disease for which treatment through genome editing was approved, making this disease a landmark in the road of molecular biology.

Deep learning model for identifying acute heart failure patients using electrocardiography in the emergency room.

Acute heart failure (AHF) poses significant diagnostic challenges in the emergency room (ER) because of its varied clinical presentation and limitations of traditional diagnostic methods. This study aimed to develop and evaluate a deep-learning model using electrocardiogram (ECG) data to enhance AHF identification in the ER. In this retrospective cohort study, we analyzed the ECG data of 19,285 patients who visited ERs of three hospitals between 2016 and 2020; 9,119 with available left ventricular ejection fraction and N-terminal prohormone of brain natriuretic peptide level data and who were diagnosed with AHF were included in the study. We extracted morphological and clinical parameters from ECG data to train and validate four machine learning models: baseline linear regression and more advanced models including XGBoost, Light GBM, and CatBoost. The CatBoost algorithm outperformed other models, showing superior area under the receiver operating characteristic and area under the precision-recall curve diagnostic accuracy across both internal (0.89 ± 0.01 and 0.89 ± 0.01) and external (0.90 and 0.89) validation datasets, respectively. The model demonstrated high accuracy, precision, recall, and f1 score, indicating robust performance in AHF identification. The developed machine learning model significantly enhanced AHF detection in the ER using conventional 12-lead ECGs combined with clinical data. These findings suggest that ECGs, a common tool in the ER, can effectively help screen for AHF.

Extracranial and nonvaginal extragonadal malignant germ cell tumors: 12 cases at a Chinese institution over the last 38years.

To provide a comprehensive understanding and propose a strategy for the management of extragonadal malignant germ cell tumors (EMGCTs) arising from extracranial and nonvaginal sites. We retrospectively reviewed the cases of 12 patients with EMGCTs arising from extracranial and nonvaginal sites treated in our center over the past 38years. Data on clinicopathological characteristics, treatment modalities, and follow-up information were analyzed. Among 209 patients diagnosed with EMGCTs, 12 women (5.7%) with EMGCTs of extracranial and nonvaginal sites were identified. These patients had tumors in the sacrococcygeal region (n = 4), abdominal cavity (n = 3), groin region (n = 2), uterus (n = 2), and mediastinum (n = 1). The median age at diagnosis was 23years. Symptoms included abnormal uterine bleeding (n = 3), abdominal discomfort (n = 3), compression symptoms (n = 3), palpable mass (n = 2), and asymptomatic (n = 1). Yolk sac tumors (YSTs) were the most common histologic type. The median level of serum alpha-fetoprotein (AFP), a sensitive tumor marker, was 8216ng/ml (2.7-74,157ng/ml). One patient started bleomycin/etoposide/cisplatin without a pathologic diagnosis based on clinical diagnosis (high AFP levels and imaging findings), and 11 patients started chemotherapy following tumor biopsy or surgical resection. During the follow-up, one patient suffered a recurrence, two patients were alive with disease, and nine patients were disease-free. Extracranial and nonvaginal EMGCTs are a heterogeneous group of tumors due to their varied onset ages, location, and clinical presentation. An all-around clinical evaluation is crucial for selecting appropriate treatment. Most patients achieve agood prognosis after surgical resection and chemotherapy. Patients with these rare diseases may benefit from individualized treatment and timely referral to experienced medical centers.

Acral Lentiginous Melanoma. Part I. Epidemiology, Etiology, Clinical Presentation, and Diagnosis.

This review article focuses on acral lentiginous melanoma (ALM), a rare cutaneous malignancy and the least common subtype of cutaneous malignant melanoma (CMM). ALM exhibits distinct characteristics, such as low overall mutation rates and increased chromosomal alterations. It is associated with worse prognosis, more advanced disease, and lower survival rates compared to other CMM subtypes. The incidence of ALM varies globally, with higher rates in non-white populations, particularly affecting Black, Hispanic, and Asian individuals. Racial disparities may be attributed to a lack of awareness, biological/genetic differences, cultural values, and socioeconomic status. The etiology of ALM remains unknown, but studies suggest a limited impact of UV radiation, potential links to trauma and stress, and a unique tumor immune microenvironment. Diagnostic challenges include varied clinical presentations, with specific biopsy techniques recommended. Clinical research on ALM lacks representation from diverse populations, ultimately limiting its translatability. Understanding the molecular landscape and clinical aspects of ALM will be crucial for improved diagnosis, treatment, and addressing health disparities. LEARNING OBJECTIVES: After completing this learning activity, participants should be able to discuss the epidemiology, etiology, mutational landscape, tumor microenvironment, and clinical presentation of acral lentiginous melanoma (ALM). Moreover, participants should also be able to describe the important racial disparities observed in ALM.

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive. To dissect these, we performed genotype-phenotype correlations of 92 affected individuals harboring a pathogenic or likely pathogenic BCL11B variant, followed by immune phenotyping, analysis of chromatin immunoprecipitation DNA-sequencing data, dual-luciferase reporter assays, and molecular modeling. These integrative analyses enabled us to define three clinical subtypes of BCL11B-related disorders. It is likely that gene-disruptive BCL11B variants and missense variants affecting zinc-binding cysteine and histidine residues cause mild to moderate neurodevelopmental delay with increased propensity for behavioral and dental anomalies, allergies and asthma, and reduced type 2 innate lymphoid cells. Missense variants within C2H2-ZnF DNA-contacting α helices cause highly variable clinical presentations ranging from multisystem anomalies with demise in the first years of life to late-onset, hyperkinetic movement disorder with poor fine motor skills. Those not in direct DNA contact cause a milder phenotype through reduced, target-specific transcriptional activity. However, missense variants affecting C2H2-ZnFs, DNA binding, and "specificity residues" impair BCL11B transcriptional activity in a target-specific, dominant-negative manner along with aberrant regulation of alternative DNA targets, resulting in more severe and unpredictable clinical outcomes. Taken together, we suggest that the phenotypic severity and variability is largely dependent on the DNA-binding affinity and specificity of altered BCL11B proteins.

Falciform Ligament Abscess Causing Acute Abdomen: Unveiling the Enigma with Review of Literature

ABSTRACT Introduction: Falciform ligament abscess (FLA) is a rare type of intra-abdominal abscess which has been sporadically reported. Diagnosis of FLA can be challenging without typical image findings of an abscess. This study publishes the varied clinical presentations, radiological findings, and management of FLA. Materials and Methods: All patients who were diagnosed and operated for FLA between May 2022 and May 2024 are included in the study. Relevant investigations were done preoperatively. Results: A total of six patients were operated for FLA. The mean age of presentation was 30 days. There were no major perioperative complications in five patients. One patient had pyopericardium which required pericardiocentesis and catheter drainage preoperatively. Conclusion: FLA should be considered in children, especially in infants with vague abdominal symptoms and failure to respond to conservative management. Due to its obscure location, it often causes delay in diagnosis and inadequate treatment. Hence, early consideration of this pathology is crucial for timely diagnosis, proper surgical treatment, and decreased morbidity and mortality.

Unveiling the Aggressiveness of Cholesteatoma: Associating MERI with miRNA-21 & IL-6 Expression.

Cholesteatoma, a destructive middle ear condition, poses challenges due to its variable clinical presentation and propensity for recurrence. Understanding its molecular underpinnings could enhance prognostication and guide therapeutic interventions. This study investigates the association between cholesteatoma aggressiveness, as assessed by the Middle Ear Risk Index (MERI), and the expression of miRNA-21 and IL-6 genes. A cross-sectional observational study involving 30 patients with cholesteatoma undergoing tympanomastoid exploration was conducted. MERI scores were calculated preoperatively, and cholesteatoma tissue was analyzed for miRNA-21 and IL-6 gene expression using RT-PCR. Statistical analysis was performed to correlate MERI scores with gene expression levels. The majority (80%) of patients exhibited severe MERI scores, correlating with extensive middle ear pathology and necessitating canal wall-down (CWD) mastoidectomy. Higher miRNA-21 and IL-6 gene expression levels were observed in cholesteatoma tissues, indicating local aggressiveness and inflammatory activity. Significant moderate correlations were found between MERI scores and miRNA-21 (Pearson correlation = 0.579, p = 0.001) and IL-6 gene expression (Pearson correlation = 0.388, p = 0.034). Patients with severe MERI scores had elevated miRNA-21 and IL-6 levels, suggesting a more aggressive disease phenotype. MERI scores demonstrated utility in predicting cholesteatoma aggressiveness, with higher scores correlating with elevated miRNA-21 and IL-6 expression. These findings suggest a potential role for MERI in guiding surgical decision-making and prognostication. Future research on targeted therapies based on molecular mechanisms holds promise for improving cholesteatoma management. 3 Laryngoscope, 135:366-372, 2025.

Spermidine Recovers the Autophagy Defects Underlying the Pathophysiology of Cell Trafficking Disorders.

Cell trafficking alterations are a growing group of disorders and one of the largest categories of Inherited Metabolic Diseases. They have complex and variable clinical presentation. Regarding neurological manifestations they can present a wide repertoire of symptoms ranging from neurodevelopmental to neurodegnerative disorders. The study of monogenic cell trafficking diseases draws an scenario to understanding this complex group of disorders and to find new therapeutic avenues. Within their pathophysiology, alterations in autophagy outstand as a targetable mechanism of disease, ammended to be modulated through different strategies. In this work we have studied the pathophysiology of two cell trafficking disorders due to mutations in SYNJ1 and NBAS genes. Specifically, we have assesed the autophagic flux in primary fibroblast cultures of the patients and gender/age-matched controls and whether it could be address with a therapeutic purpose. The results have shaped autophagy as one of the hallmarks of the disease. Moreover, we tested invitro the effect of spermidine, a natural polyamine that acts as an autopagy inductor. Due to the positive results, its efficacy was evaluated later on the patients as well, in a series of n-of-1 clinical trials, achieving improvement in some clinical aspects related to motricity and cognition. Defining autophagy alterations as a common feature in the pathophysiology of cell trafficking disorders is a great step towards their treatment, as it represents a potential actionable target for the personalized treatement of these disorders.

Successful management of an unusual case of pediatric inflammatory myofibroblastic tumor: a case report and literature review

Introduction and importance: Inflammatory myofibroblastic tumor (IMT) is a rare neoplastic condition that primarily affects children and young adults. This case report highlights the challenges in diagnosing and treating pediatric IMT, emphasizing the importance of tailored interventions. Case presentation: An 8-year-old boy presented with respiratory symptoms and was diagnosed with an IMT located in the left main bronchus. Imaging studies revealed a soft tissue mass and lymph node enlargement. Bronchoscopy and biopsy confirmed the diagnosis. The patient underwent bronchoscopic debulking procedures followed by lobectomy and bronchoplasty due to persistent disease. Clinical discussion: IMTs pose diagnostic challenges due to their varied clinical presentation and similarities with other neoplasms. A multidisciplinary approach involving pathologists, radiologists, and surgeons is crucial for accurate diagnosis and optimal treatment planning. The pathogenesis of IMTs is not fully understood, but theories suggest an inflammatory response or involvement of the ALK gene. IMTs can affect various organs, each with distinct symptoms. Imaging modalities lack specificity, emphasizing the importance of histopathological examination. Conclusion: IMTs require individualized treatment approaches based on the location and extent of the tumor. Long-term follow-up is essential for monitoring recurrence and metastasis. Further research is needed to enhance our understanding of IMT biology and develop targeted therapies to improve patient outcomes. This case report underscores the importance of tailored interventions in pediatric IMT cases and highlights the challenges in diagnosis and treatment.

Diagnostic approach to glomerular diseases

Glomerular diseases are diagnostically complex due to their diverse clinical presentations and underlying etiologies. The diagnostic process begins with a detailed patient history and physical examination, focusing on signs and symptoms indicative of glomerular pathology. Essential laboratory evaluations include urinalysis, emphasizing proteinuria and urinary sediment analysis, and blood tests like serum creatinine and autoimmune markers, which are vital in narrowing differential diagnoses. Imaging modalities, such as renal ultrasound and computed tomography or magnetic resonance imaging scans, where appropriate, contribute additional information regarding renal structure and function. Renal biopsy remains the definitive diagnostic tool, often employed when noninvasive tests suggest significant pathology, guiding diagnosis and treatment strategies. The review advocates for a systematic, multidisciplinary approach to diagnosing and managing glomerular diseases. By elucidating these diagnostic principles, this article improves clinicians’ diagnostic accuracy and patient care in the context of glomerular diseases.