Globus sensation in obstructive sleep apnea patients; A cross-sectional study of 120 patients.

PURPOSE: Globus pharyngeus (GP) is a common complaint in many disciplines, especially otolaryngology. Pharyngeal symptoms and abnormalities, including GP, are frequent in obstructive sleep apnea (OSA) patients. This study aims to investigate globus sensation in non-operated OSA patients. METHODS: After translation and validation, the Laryngopharyngeal Measure of Perceived Sensation (LUMP) was administered to 120 untreated OSA patients. All patients underwent polysomnography and thorough physical examination. The association between LUMP scores and OSA measures was evaluated. RESULTS: LUMP score had a significant correlation with the Epworth Sleepiness Scale (ESS) (Spearman's ρ = 0.269, p = 0.004), and BMI (Spearman's ρ = 0.249, p = 0.007), the anatomical position of the tongue (ρ = -0.191, p = 0.04) and the Friedman grade of tonsils (ρ = 0.241, p = 0.01). It correlated with SpO2 nadir, though it did not reach statistical significance. CONCLUSION: The results of our study depict a relationship between a self-report measure of globus sensation and daytime sleepiness, BMI and tonsil size. In the absence of a direct relationship between OSA severity parameters and GP, we hypothesize a role for shared comorbidities and anatomical phenotypes. The increased frequency of GP in OSA patients should be considered when evaluating the complications of surgical interventions in these patients.

Primary immunodeficiency associated with hypopigmentation: A differential diagnosis approach.

Primary immunodeficiency diseases (PIDs) are a group of more than 400 disorders representing aberrant functioning or development of immune system. Hypopigmentation syndromes also characterize a distinguished cluster of diseases. However, hypopigmentation may also signify a feature of genetic diseases associated with immunodeficiency, such as Chediak-Higashi syndrome, Griscelli syndrome type 2, Hermansky-Pudlak syndrome type 2 and type 10, Vici syndrome, and P14/LAMTOR2 deficiency, all of which are linked with dysfunction in vesicular/endosomal trafficking. Regarding the highly overlapping features, these disorders need a comprehensive examination for prompt diagnosis and effective management. As an aid to clinician, distinguishing the pathophysiology, clinical phenotype, and diagnosis as well as treatment options of the six mentioned PID disorders associated with hypopigmentation are described and discussed in this review.

Immune-scoring in head and neck squamous cell carcinoma: a scoping review.

INTRODUCTION: Head and neck squamous cell carcinomas (HNSCCs) have an increasing incidence, high recurrence, and an overall unfavorable prognosis despite numerous treatment options. The distinct immune landscape of HNSCC suggests a potential for immune-related biomarkers to aid classification and treatment planning. AREAS COVERED: Immunoscore, a multiplex measure of tumor-infiltrating immune cells, is currently approved in colorectal carcinoma and is under investigation in various other cancer types. Recent studies have tried to implement the immunoscore and other novel immune cell-based scoring systems in HNSCC as predictors of survival. This study provides an overview of tumor-infiltrating immune cells and their prognostic significance, as well as a comparative summary of studies introducing an immunoscore in HNSCC. EXPERT OPINION: With sufficient insight of the current literature, future studies could lead to the definition and validation of a new immune-based classification system for HNSCC. Such a classification strategy could be the basis for patient selection and, thus, optimize treatment outcomes and reduce unwanted complications. The heterogeneity of HNSCC subtypes, as well as the intratumoral variability of immune infiltrates, should be accounted for in the immunoscore.

Novel CARMIL2 (RLTPR) Mutation Presenting with Hyper-IgE and Eosinophilia: A Case Report.

BACKGROUND: Inborn errors of immunity are a growing group of disorders with a wide spectrum of genotypic and phenotypic profiles. CARMIL2 (previously named RLTPR) deficiency is a recently described cause of immune dysregulation, mainly presenting with allergy, mucocutaneous infections, and inflammatory bowel disease. CARMIL2 deficiency is categorized under diseases of immune dysregulation with susceptibility to lymphoproliferative conditions. CASE PRESENTATION: Here we describe a 29-years-old male from a consanguineous family, with food and sting allergy, allergic rhinitis, facial molluscum contagiosum (viral infection of the skin in the form of umbilicated papules), eosinophilia and highly elevated serum IgE level. Whole exome sequencing revealed numerous homozygous variants, including a CARMIL2 nonsense mutation, a gene regulating actin polymerization, and promoting cell protrusion formation. CONCLUSION: The selective role of CARMIL2 in T cell activation and maturation through cyto-skeletal organization is proposed to be the cause of immune dysregulation in individuals with CARMIL2 deficiency. CARMIL2 has an important role in immune pathways regulation, through cell maturation and differentiation, giving rise to a balance between Th1, Th2, and Th17 immune response. This case can improve the understanding of the different impacts of CARMIL2 mutations on immune pathways and further guide the diagnosis of patients with similar phenotypes.

Early Childhood COVID-19: A Comparative Report of 20,506 Cases.

This report includes a retrospective analysis of 20506 children aged under 6 years old admitted with Coronavirus Disease of 2019 in Iranian hospitals. The total mortality rate was 2.9%, and 5.7% required mechanical ventilation. We demonstrate a higher mortality rate in comparison with existing studies as well as identifying clinical predictors of survival.

Clinical Functional Seizure Score (CFSS): a simple algorithm for clinicians to suspect functional seizures.

Purpose: Distinguishing functional seizures (FS) from epileptic seizures (ES) poses a challenge due to similar clinical manifestations. The creation of a clinical scoring system that assists in accurately diagnosing patients with FS would be a valuable contribution to medical practice. This score has the potential to enhance clinical decision-making and facilitate prompt diagnosis of patients with FS. Methods: Participants who met the inclusion criteria were randomly divided into three distinct groups: training, validation, and test cohorts. Demographic and semiological variables were analyzed in the training cohort by univariate analyses. Variables that showed a significant difference between FS and ES were then further scrutinized in two multivariate logistic regression models. The CFSS was developed based on the odds ratio of the discriminating variables. Using the validation group, the optimal cutoff value was determined based on the AUC, and then the CFSS was evaluated in the test cohort to assess its performance. Results: The developed score yielded an AUC of 0.78 in the validation cohort, and a cutoff point of 6 was established with a focus on maximizing sensitivity without significantly compromising specificity. The score was then applied in the test cohort, where it achieved a sensitivity of 86.96% and a specificity of 73.81%. Conclusion: We have developed a new tool that shows promising results in identifying patients suspicious of FS. With further analysis through prospective studies, this innovative, simple tool can be integrated into the diagnostic process of FS.

Central neuroinflammation in Covid-19: a systematic review of 182 cases with encephalitis, acute disseminated encephalomyelitis, and necrotizing encephalopathies.

Growing evidence demonstrates the association of encephalitis, meningoencephalitis or encephalomyelitis, with SARS-CoV-2 infection. This study aims to determine the profile and possible mechanisms behind CNS inflammatory diseases in the context of Covid-19. We conducted a systematic review of case reports on Covid-19-related encephalitis, meningoencephalitis, acute necrotizing encephalitis, and acute disseminated encephalomyelitis in adults, published before January 2021. A total of 182 cases (encephalitis = 109, meningoencephalitis = 26, acute disseminated encephalomyelitis = 35, acute necrotizing (hemorrhagic) encephalitis = 12) were included. While cerebrospinal fluid (CSF) pleocytosis and increased protein level was present in less than 50%, magnetic resonance imaging (MRI) and electroencephalogram (EEG) were abnormal in 78 and 93.2% of all cases, respectively. Viral particles were detected in cerebrospinal fluid of only 13 patients and autoantibodies were present in seven patients. All patients presented with altered mental status, either in the form of impaired consciousness or psychological/cognitive decline. Seizure, cranial nerve signs, motor, and reflex abnormalities were among associated symptoms. Covid-19-associated encephalitis presents with a distinctive profile requiring thorough diagnosis and thereby a comprehensive knowledge of the disease. The clinical profile of brain inflammation in Covid-19 exhibits majority of abnormal imaging and electroencephalography findings with mild/moderate pleocytosis or proteinorrhachia as prevalent as normal cerebrospinal fluid (CSF). Oligoclonal bands and autoantibody assessments are useful in further evaluating neuro-covid patients, as supported by our pooled evidence. Despite the possibility that direct viral invasion cannot be easily estimated, it is still more likely that immune-mediated or autoimmune reactions play a more important role in SARS-CoV-2 neuroinflammation.

Primary immunodeficiency associated with hypopigmentation: A differential diagnosis approach

Primary immunodeficiency diseases (PIDs) are a group of more than 400 disorders representing aberrant functioning or development of immune system. Hypopigmentation syndromes also characterize a distinguished cluster of diseases. However, hypopigmentation may also signify a feature of genetic diseases associated with immunodeficiency, such as Chediak–Higashi syndrome, Griscelli syndrome type 2, Hermansky–Pudlak syndrome type 2 and type 10, Vici syndrome, and P14/LAMTOR2 deficiency, all of which are linked with dysfunction in vesicular/endosomal trafficking. Regarding the highly overlapping features, these disorders need a comprehensive examination for prompt diagnosis and effective management. As an aid to clinician, distinguishing the pathophysiology, clinical phenotype, and diagnosis as well as treatment options of the six mentioned PID disorders associated with hypopigmentation are described and discussed in this review (AU)