Potential Etiologic Factors Research Articles

5155 Benign Paroxysmal Positional Vertigo as a Potential Manifestation of Hypothyroidism, a Case Report

Abstract Disclosure: M. Ahmad: None. M. Herrera: None. D. Deyar: None. P. Gill: None. Introduction: Benign Paroxysmal Positional Vertigo (BPPV) is a vestibular disorder characterized by recurrent episodes of vertigo triggered by specific head movements. The pathophysiology of BPPV involves the displacement of otoconia within the semicircular canals of the inner ear. However, emerging evidence suggests that BPPV may manifest as a consequence of hypothyroidism. In this case report, we present a clinical case of a patient who exhibited symptoms of BPPV and was subsequently diagnosed with hypothyroidism. We aim to elucidate the relationship between these two seemingly distinct conditions and highlight the importance of considering hypothyroidism as a potential cause of BPPV. Case presentation: A 56-year-old female with a past medical history of migraines presented to the hospital for three days of dizziness. She had multiple bouts of vomiting and right-sided headaches similar to her prior migraine headaches. The patient also noted dry skin, constipation, and hair loss for the past few months. The patient’s vital signs were as follows: temperature: 35.6 C, heart rate: 65 beats per minute, blood pressure: 153/66 mmHg, and respiratory rate: 18 breaths per minute. On physical examination, the Dix-Hallpike maneuver was positive on the right side and the patient was noted to have diffusely dry skin. The patient’s labs were significant for the following: sodium: 137 mmol/L, potassium: 3.7 mmol/L, creatinine: 0.88 mg/dL, thyroid stimulating hormone: 31.2 uIU/ml, free T4 ng/dL, hemoglobin: 10.8 g/dL (MCV of 87), and TPO antibody: 2350 IU/ml. The patient underwent CT and MRI imaging of the brain without contrast, which was negative for any acute intracranial abnormalities. The patient was diagnosed with BPPV and hypothyroidism secondary to Hashimoto’s thyroiditis and subsequently underwent vestibular physical therapy with improvement in her vertigo and was started on 112 mcg of levothyroxine daily. She is set to follow up with her primary care provider as an outpatient. Discussion: BPPV generates significant repercussions to an individual’s quality of life, autonomy, and functionality. Hypothyroidism is a common condition characterized by thyroid hormone deficiency that has been linked with a wide array of clinical manifestations, including vestibular disturbances. Autoimmune dysfunction, anomalies of the endolymphatic flow and low perfusion to the inner ear are potential etiological factors that can explain the relationship between thyroid disorders with BPPV. Some studies mention that thyroid autoantibodies could induce autoimmune-complex deposition in the inner ear, which might change the endolymphatic flow and induce BPPV. Raising awareness regarding this potential manifestation of hypothyroidism can guide clinical and diagnostic decisions that improve patient care, especially in individuals under evaluation for BPPV with other symptoms of hypothyroidism. Presentation: 6/3/2024

Generalization of conditioned fear in humans: Transitioning from episodic to semantic memory

Overgeneralization of anxiety is a potential etiological factor contributing to anxiety disorders. Based on perceptual and conceptual generalizations of fear memory, previous research has initiated investigations into the involvement of explicit memory in human fear generalization. However, the precise relationship between episodic and semantic memory in fear generalization remains unclear. Based on the theoretical framework of "multiple trace theory" in memory and using the experimental paradigm of fear generalization from episodic memory, this study aimed to investigate the potential of human fear generalization from episodic to semantic memory. The results showed that conditioned fear can be generalized from episodic to semantic memory and that this generalization has a categorical effect. The results of this study are of great importance for elucidating the mechanism underlying human fear generalization and for exploring more effective measures of emotional intervention.

Evidence for central sensitization as classified by the central sensitization inventory in patients with pain and hypermobility.

Pain is a very common complaint among patients with hypermobile Ehlers-Danlos Syndrome (hEDS) and Hypermobility Spectrum Disorders (HSDs). Often challenging to treat, insights into the underpinnings of pain in this population have been fleeting. Central sensitization (CS) has been postulated as a potential etiological factor. In this retrospective study, 82 consecutive patients with hEDS/HSDs were reviewed. Demographic information and Central Sensitization Inventory (CSI) results were collected. 71 of 82 (86.5%) patients demonstrated CS. Scores ranged from 12 to 94 with a median of 56. Pain scores as measured on the numerical rating scale (NRS) ranged from 2 to 10 with a mean and median of 6. A large percentage of patients with pain and a diagnosis of hEDS/HSDs demonstrated evidence of central sensitization as measured using the CSI. The CSI is simple to administer. The CSI may provide clinical insights that are key to successfully managing patients with hEDS/HSDs. Further research is needed to explore the ability to classify pain phenotypes in this patient population and the impact on precision medicine.

The Overlooked Floppy Eyelid Syndrome: From Diagnosis to Medical and Surgical Management.

Floppy Eyelid Syndrome (FES) is an underdiagnosed ocular condition characterized by the abnormal laxity of the upper eyelids, often leading to chronic eye irritation and redness. This review provides an in-depth examination of FES, covering its pathophysiology, clinical presentation, and diagnostic and therapeutic approaches. We discuss the potential etiological factors, including genetic predispositions and associations with ocular and systemic conditions such as obesity, obstructive sleep apnea, keratoconus, and glaucoma. Diagnostic strategies are outlined, emphasizing the importance of thorough clinical examinations and specific tests for an efficacious grading and assessment of FES. Management of FES ranges from conservative medical treatments to surgical interventions for more severe cases and should be driven by a comprehensive and multidisciplinary approach. Herein, we illustrate the practical aspects of diagnosing and managing this condition. This comprehensive review aims to enhance the recognition and treatment of FES, ultimately improving the quality of life for affected patients.

Macular structural integrity estimates are associated with Parkinson’s disease genetic risk

BackgroundOptical coherence tomography (OCT) is a non-invasive technique to measure retinal layer thickness, providing insights into retinal ganglion cell integrity. Studies have shown reduced retinal nerve fibre layer (RNFL) and ganglion cell inner plexiform layer (GCIPL) thickness in Parkinson’s disease (PD) patients. However, it is unclear if there is a common genetic overlap between the macula and peripapillary estimates with PD and if the genetic risk of PD is associated with changes in ganglion cell integrity estimates in young adults.MethodWestern Australian young adults underwent OCT imaging. Their pRNFL, GCIPL, and overall retinal thicknesses were recorded, as well as their longitudinal changes between ages 20 and 28. Polygenic risk scores (PRS) were estimated for each participant based on genome-wide summary data from the largest PD genome-wide association study conducted to date. We further evaluated whether PD PRS was associated with changes in thickness at a younger age. To evaluate the overlap between retinal integrity estimates and PD, we annotated and prioritised genes using mBAT-combo and performed colocalisation through the GWAS pairwise method and HyPrColoc. We used a multi-omic approach and single-cell expression data of the retina and brain through a Mendelian randomisation framework to evaluate the most likely causal genes. Genes prioritised were analysed for missense variants that could have a pathogenic effect using AlphaMissense.ResultsWe found a significant association between the Parkinson’s disease polygenic risk score (PD PRS) and changes in retinal thickness in the macula of young adults assessed at 20 and 28 years of age. Gene-based analysis identified 27 genes common to PD and retinal integrity, with a notable region on chromosome 17. Expression analyses highlighted NSF, CRHR1, and KANSL1 as potential causal genes shared between PD and ganglion cell integrity measures. CRHR1 showed consistent results across multiple omics levels.InterpretationOur findings suggest that retinal measurements, particularly in young adults, could be a potential marker for PD risk, indicating a genetic overlap between retinal structural integrity and PD. The study highlights specific genes and loci, mainly on chromosome 17, as potential shared etiological factors for PD and retinal changes. Our results highlight the importance of further longitudinal studies to validate retinal structural metrics as early indicators of PD predisposition.

Depressive Symptoms during Pregnancy and the Postpartum Period: A Tertiary Hospital Experience.

Background and Objectives: The prevalence of depressive symptoms during pregnancy is about 20%, and 10-15% in the postpartum period. Suicide is a worrying cause of death among women in these periods. Although ICD-10 lacks specific definitions for perinatal depression (it is planned in ICD-11), the DSM-5 defines it. Various etiological factors and treatment options are being investigated. This study aimed to examine potential etiological factors in order to contribute to potential preventive and therapeutic approaches. Material and Methods: A prospective study at the Clinic for Gynecology and Obstetrics, University Clinical Center of Serbia, from October 2023 to January 2024 was conducted. Two hundred and five healthy women were surveyed before giving birth (37+ gestational weeks) and 2 weeks and 2 months after childbirth. The following factors were examined: sociodemographic, psychological, and obstetric (using a specially designed questionnaire); relationship quality (DAS-32); and depression, anxiety, and stress symptoms (EPDS; DASS-21). Results: Depression frequency was 26.3% before childbirth, 20% in the second week, and 21.9% in the second month after delivery. DASS-21 test results showed a statistically significant correlation before delivery and two weeks postpartum (p = 0.02). Factors that are significantly associated with the presence of depressive symptoms include the following: before childbirth-miscarriages (p < 0.01); in the second week after childbirth-personal experiences of a difficult birth (p < 0.01), cesarean delivery instead of planned vaginal delivery (p = 0.03), and application of epidural anesthesia (p = 0.04); and in the second month after childbirth-satisfaction with financial status (p = 0.035). Relationship quality is significantly correlated with DASS-21 test results before childbirth, in the second week, and in the second month after childbirth (p < 0.01), and it is significantly different in women with and without depressive symptoms (before childbirth, in the second week, and in the second month after childbirth, p < 0.01). Conclusions: There are risk factors that can be addressed preventively and therapeutically during pregnancy and in labor. This could be achieved through psychotherapy, partner support, and appropriate management of labor.

Pain with orgasm in endometriosis: potential etiologic factors and clinical correlates.

Pelvic pain worsened by orgasm is a poorly understood symptom in patients with endometriosis. To assess the prevalence of pelvic pain worsened by orgasm in patients with endometriosis and explore its association with potential etiologic factors, including pelvic floor myalgia, uterine tenderness and adenomyosis, and central nervous system sensitization. An analysis was done of a prospective data registry based at a tertiary referral center for endometriosis. Eligible participants were patients aged 18 to 50 years who were referred between January 1, 2018, and December 31, 2019, diagnosed with endometriosis, and subsequently underwent surgery at the center. Clinical features were compared between participants reporting worsening pelvic pain with orgasm and those without worsening pain with orgasm, including patient-reported variables, physical examination findings, and anatomic phenotyping at the time of surgery. Pelvic floor myalgia and uterine tenderness were assessed by palpation on pelvic examination, adenomyosis by ultrasound, and central nervous system sensitization via the Central Sensitization Inventory (range, 0-100). Outcomes included pelvic or lower abdominal pain in the last 3months that worsened with orgasm (yes/no). Among 358 participants with endometriosis, 14% (49/358) reported pain worsened by orgasm while 86% (309/358) did not. Pain with orgasm was significantly associated with pelvic floor myalgia (55% [27/49] vs 35% [109/309]; Cohen's h = 0.40, P = .01) and higher scores on the Central Sensitization Inventory (mean ± SD, 53.3 ± 17.0 vs 42.7 ± 18.2; Cohen's d = 0.60, P < .001) but not with uterine tenderness or adenomyosis. Other clinical features associated with pain with orgasm were poorer sexual health (higher scores: deep dyspareunia, Cohen's h = 0.60; superficial dyspareunia, Cohen's h = 0.34; and Female Sexual Distress Scale-Revised, Cohen's d = 0.68; all P < .05) and poorer mental health (higher scores: Patient Health Questionnaire-9, 12.9 ± 6.7 vs 9.1 ± 6.3, Cohen's d = 0.59, P < .001; Generalized Anxiety Disorder-7, 9.4 ± 5.6 vs 6.8 ± 5.5, Cohen's d = 0.48, P = .002). Anatomic findings at the time of surgery did not significantly differ between the groups. Interventions targeting pelvic floor myalgia and central nervous system sensitization may help alleviate pain worsened by orgasm in patients with endometriosis. A strength is that pain worsened by orgasm was differentiated from dyspareunia. However, pain with orgasm was assessed by only a binary question (yes/no). Also, the study is limited to a single center, and there were limited data on sexual function. Pelvic pain exacerbated by orgasm in people with endometriosis may be related to concurrent pelvic floor myalgia and central sensitization.

Vulvar lichen sclerosus in female children

Background: Vulvar lichen sclerosus (VLS) is an uncommon inflammatory dermatosis affecting the anogenital region. There are two peaks of incidence: one in prepubertal girls and the other in postmenopausal women. Its etiopathogenesis remains unknown. Objective: The objective was to specify the clinical characteristics of VLS in the female pediatric population in order to plan early treatment. Results: A total of 12 pediatric female patients were identified in the study. The mean age of onset was six years. Numerous potential etiological factors for VLS development were identified. Pruritus was the main symptom in a significant proportion of the patients. All patients had a good response to topical therapy with no significant side effects. Conclusion: VLS should be suspected in the presence of chronic vulvar pruritus in order to avoid tragic repercussions in adulthood. Appropriate treatment for each patient is essential as is the prevention of the side effects of applied treatments. Key words: Vulvar Lichen Sclerosis; pediatric; adolescent

Chronic oral diseases secondary to COVID-19 infection or vaccination: clinical cases and a narrative review.

Autoimmune activation by COVID-19 infection/vaccination has been postulated to be responsible for initiating or reactivating multiple types of oral mucosal immune disorders. These include: oral lichen planus; oral pemphigoid; either bullous pemphigoid or mucous membrane pemphigoid with oral involvement; pemphigus vulgaris with oral involvement; and Sjögren disease. In addition, chronic conditions such as oral burning, xerostomia, or changes in taste and/or smell have also been linked to COVID-19 infection/vaccination. Part 1 (mucosal conditions): an English-language literature review of Pubmed, Web of Science, Scopus, and Embase was performed searching cases of oral lichen planus, oral bullous pemphigoid, mucous membrane pemphigoid, pemphigus vulgaris, and COVID-19 infection/vaccination, with additional cases from the authors' clinical practice presented. Part 2 (nonmucosal conditions): Cases of initiated or flared Sjögren disease, chronic oral burning, or xerostomia after COVID-19 infection/vaccination from the authors' clinical practice were aggregated. The literature review discovered 29 cases of oral lichen planus following COVID-19 infection/vaccination. For bullous pemphigoid, 10 cases were identified after infection/vaccination. The number of pemphigus vulgaris cases following infection/vaccination was 28. The majority of mucosal cases were reported after vaccination. Most reported initial disease, but a substantial amount included recurrences of existing diseases. Nonmucosal disease: Sjögren disease, chronic oral burning, or xerostomia after COVID-19 infection/vaccination cases totaled 12 cases identified from the authors' clinical practice, with the majority occurring after infection. Chronic conditions after infection with COVID-19 or vaccination remain relatively rare and self-limited, yet reinforce the importance of comprehensive history taking involving COVID-19 to differentiate potential etiologic factors for these conditions.

Osteoporosis and coronary heart disease: a bi-directional Mendelian randomization study.

Osteoporosis (OP) and cardiovascular disease (CVD) are major global public health issues, especially exacerbated by the challenges of an aging population. As these problems intensify, the associated burden on global health is expected to increase significantly. Despite extensive epidemiological investigations into the potential association between OP and CVD, establishing a clear causal relationship remains elusive. Instrumental variables were selected from summary statistics of the IEU GWAS database. Five different components of BMD (heel BMD, LS BMD, FA BMD, FN BMD, and TB BMD) were used as OP phenotypes. CHD, MI, and stroke were selected to represent CVD. Multiple analysis methods were used to evaluate the causal relationship between CVD and OP comprehensively. In addition, sensitivity analyses(Cochran's Q test, MR-Egger intercept test, and "leave one out" analysis) were performed to verify the reliability of the results. The MR showed a significant causal relationship between CHD on heel BMD and TB BMD; in the reverse analysis, there was no evidence that OP has a significant causal effect on CVD. The reliability of the results was confirmed through sensitivity analysis. The study results revealed that CHD was causally associated with Heel BMD and TB BMD, while in the reverse MR analysis, the causal relationship between OP and CVD was not supported. This result posits CHD as a potential etiological factor for OP and prompts that routine bone density assessment at traditional sites (forearm, femoral neck, lumbar spine) using DAX may inadequately discern underlying osteoporosis issues in CHD patients. The recommendation is to synergistically incorporate heel ultrasound or DAX for total body bone density examinations, ensuring clinical diagnostics are both precise and reliable. Moreover, these findings provide valuable insights for public health, contributing to the development of pertinent prevention and treatment strategies.

Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathway.

Bone tissue homeostasis relies on the coordinated activity of the bone-forming osteoblasts and bone-resorbing osteoclasts. Osteomesopyknosis is considered a distinctive rare sclerosing skeletal disorder of unelucidated pathophysiology and presumably autosomal dominant transmission. However, the causal genes are unknown. We present a case report encompassing clinical assessments, imaging studies, and whole-exome sequencing analysis, complemented by functional invitro experiments. This new case of osteomesopyknosis was associated with a missense ALOX5 variant predicted to induce protein misfolding and proteasomal degradation. Transfection experiments demonstrated that the variant was associated with reduced protein levels restored by proteasomal inhibition with bortezomib. Likewise, gene expression analysis showed that the mutated gene was associated with a decreased RANKL/OPG ratio, which is a critical driver of osteoclast precursor differentiation. Our data indicate impaired bone resorption as the underlying mechanism of this rare osteosclerosis, implicating ALOX5 pathogenic variants as potential etiological factors.

Abstract 3440: Etiology of prostate cancer with the TMPRSS2:ERG fusion: A systematic review of risk factors

Abstract Background: The TMPRSS2:ERG gene fusion is the most common somatic alteration in primary prostate cancer and an early event in carcinogenesis. There are emerging data highlighting etiologic differences in prostate cancer by TMPRSS2:ERG status. This systematic review synthesized evidence from epidemiologic studies on prostate cancer risk factors for tumors with and without the TMPRSS2:ERG fusion. Methods: A systematic literature search was performed in Ovid MEDLINE, EMBASE, and Web of Science without language restriction for studies published by September 27, 2022. Studies that assessed associations between epidemiologic and genetic factors and prostate cancer risk by tumor TMPRSS2:ERG (ERG) fusion status in human populations were included. Results: Of 3,071 records identified, 20 publications comprising prospective cohort and case-control studies from five study populations (published 2009-2022) were included. Risk factors included germline genetic variants, circulating hormones, diet, lifestyle factors, and medications. The included studies suggested that taller height and higher total and free circulating testosterone levels tended to be associated with higher risk of ERG-positive, but not ERG-negative prostate cancer. CAG repeat length in the androgen receptor (AR) gene, related inversely to transcriptional activity, appeared to be associated with a lower risk of ERG-positive, but not ERG-negative prostate cancer. There was statistical evidence for etiologic differences for several germline single nucleotide polymorphisms (SNPs) by ERG status. Excess body weight, greater vigorous physical activity, greater lycopene intake, and calcium channel blocker use appeared to specifically be associated with a lower risk of ERG-positive tumors. Associations of other potential etiologic factors, including diabetes mellitus, baldness, aspirin use, circulating antioxidant levels, and sex hormones other than testosterone, with ERG-positive prostate cancer were null or inconclusive. Most associations had low precision, and the results were based on few distinct study populations, highlighting a need for replication. Conclusions: Prostate cancer with the TMPRSS2:ERG fusion may be an etiologically distinct subtype impacted by certain modifiable and hormonally-acting risk factors that align with the established mechanistic role of this gene fusion in androgen, insulin, and growth factor pathways. The findings suggest a potentially distinct genetic predisposition to prostate cancer with or without the TMPRSS2:ERG fusion. More broadly, these findings suggest that considering molecular subtypes of prostate cancer, beyond TMPRSS2:ERG, may strengthen etiologic understanding of prostate cancer and evidence for prevention. Citation Format: Colleen B. McGrath, Alaina H. Shreves, Megan R. Shanahan, Hannah E. Guard, Manelisi V. Nhliziyo, Kathryn L. Penney, Tamara L. Lotan, Michelangelo Fiorentino, Konrad H. Stopsack, Lorelei A. Mucci. Etiology of prostate cancer with the TMPRSS2:ERG fusion: A systematic review of risk factors [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2024; Part 1 (Regular Abstracts); 2024 Apr 5-10; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2024;84(6_Suppl):Abstract nr 3440.

Association between oxidative balance score and self-reported severe headache or migraine based on NHANES 1999 to 2004 data: A cross-sectional study

PurposeThe pathophysiological mechanisms underlying migraine remain elusive, with oxidative stress hypothesized as a potential etiological factor. The Oxidative Balance Score (OBS) is a comprehensive tool for assessing the impact of diet and lifestyle on oxidative stress, thereby gauging an individual's overall antioxidant capacity. In this cross-sectional study, we explored the correlation between OBS and migraine prevalence among a cohort of US adults. MethodsWe analyzed data from 6195 participants aged 20 years and above, drawn from the National Health and Nutrition Examination Survey (NHANES) conducted between 1999 and 2004. We employed multiple logistic regression, coupled with sensitivity analyses, to investigate the relationship between OBS and migraine. Subsequent subgroup analyses and interaction tests were performed to assess the consistency of this association across the population. ResultsMultiple logistic regression revealed an inverse relationship between OBS and the likelihood of experiencing migraines. Specifically, individuals in the highest OBS quartile exhibited a significantly reduced migraine risk compared to those in the lowest quartile (OR = 0.98, 95% Confidence Interval (CI): 0.97–0.99, P = 0.0001). Furthermore, restricted cubic spline curves indicated a non-linear association between dietary OBS and migraine incidence (non-linear P = 0.0258). DiscussionOur findings suggest that adherence to an antioxidant-rich diet may be an effective strategy for mitigating migraine, potentially by influencing oxidative balance.

Leukemoid Reaction in an Elderly Patient with Aortic Valve Infective Endocarditis and Pancreatic Adenocarcinoma

Leukemoid reaction (LR) associated with solid tumors has been documented for many decades. LR is often associated with an unfavorable prognosis and aggressive course of the disease. However, the differential diagnosis of LR is of significant difficulty when a patient has several potential etiological factors, each of them individually may cause LR or, on the contrary, lead to a systemic reaction of the body within a single pathogenetic chain.We present a clinical observation of an elderly patient admitted to the intensive care unit due to the first-time encountered weakness in the right extremities. Clinical and instrumental examination revealed an acute cerebral ischemia with leukocytosis increase up to 60.000 cells/μL with leukocyte formula left shift and subsequent patient decompensation with lethal outcome, despite the intensive treatment.Autopsy revealed a low-differentiated adenocarcinoma of the pancreatic tail with multiple metastatic lesions in regional lymph nodes and liver, as well as a competing disease — acute infective endocarditis of the aortic valve, which was the cause of sepsis development with septicemia type and thromboembolism both in the great circulation circle with the presence of ischemic cerebral infarction, spleen infarcts, and in the small circle with the development of thromboembolism in the right segmental branches of the pulmonary artery. Given the advanced stage of pancreatic cancer and lack of direct evidence of sepsis at primary diagnosis, paraneoplastic nature of LR is more likely, but infective endocarditis and concomitant pathology also may have contributed to the development of LR.

Frequency of Urinary Tract Infection among Neonates with Persistent Jaundice at Lady Reading Hospital, Peshawar

Jaundice refers to yellow-orange discoloration of the skin and sclera, resulting from an excessive accumulation of bilirubin in the dermis and mucous membranes. Indirect neonatal hyperbilirubinemia is a prevalent and frequent etiology of jaundice, leading to the hospitalization of neonates in healthcare institutions worldwide. Objective: To determine the frequency of urinary tract infection among neonates with prolonged jaundice. Methods: The present study, a cross-sectional design, was carried out at the Department of Pediatrics, Lady Reading Hospital, Peshawar, from June 20th to December 20th, 2022. The study consisted of 87 infants, encompassing both genders, who presented with persistent jaundice. Two samples of clean urine were collected from neonates, with a time interval of many minimums of two hours between each collection. These samples were then sent to the hospital laboratory for diagnosing urinary tract infection. Results: The age range of participant neonates in this study ranged from 14 to 28 days, with a mean age of 20.597±4.50 days. The mean duration of complaint was also 18.20±4.077 days, and the mean weight was 2.855±0.27 Kg. The proportion of male patients was 58.6%, while the proportion of female patients was 41.4%. Among these 11.5% were found to have urinary tract infection. Conclusions: It is concluded that significant number (11.5%) of patients with persistent jaundice has urinary tract infection. It is likely a potential etiological factor contributing to neonatal unexplained prolonged indirect hyperbilirubinemia.

A study on clinico- epidemiological profile &amp; histopathological profile of cutaneous vasculitis

: The study aimed to analyse the potential etiological factors, clinical presentation, past medical history &amp; laboratory findings in patients with biopsy-proven cutaneous vasculitis to better understand the disease and identify the disease classifications. The objective of this study was to establish a database of the clinic-epidemiological profile and histopathological features of cutaneous vasculitis in a tertiary hospital in Eastern Nepal.: A Descriptive cross-sectional study was planned to analyse and study the clinic-epidemiological profile and histopathological features of cutaneous vasculitis in Nepal. This study has reviewed the facts which were published earlier to determine the current scenario by vast study of statistics and derivation of facts. Proper examination of data was made to evaluate with final conclusion. The study included sample size of 30 consecutive patients with biopsy-proven cutaneous vasculitis attending the Dermatology outpatient department and admitted to the dermatology ward at B.P. Koirala Institute of Health Science, Dharan. : The study population of 30 patients with biopsy-proven cutaneous vasculitis, with an average age of 32.96 years, and a female-to-male ratio of 1.3:1. The majority of patients (66.67%) had lesions lasting less than 6 weeks, and acute disease was observed in 86.66% of the cases. The most common symptoms were itching (73.66%) and arthralgia (66.67%). Palpable purpura was the predominant cutaneous manifestation (70%), mainly distributed on the legs and ankles (93.33%). Elevated ESR was the most common laboratory abnormality (73.33%). Histopathological examination revealed leukocytoclastic vasculitis in 97% of cases, with predominantly neutrophilic infiltrates. Henoch-Schoenlein purpura (HSP) was the most common classification (43.33%), followed by urticarial vasculitis (26.67%).: This study provides valuable insights into the clinic-epidemiological profile and histopathological features of cutaneous vasculitis in the Nepalese population. It highlights the diverse clinical presentation and laboratory abnormalities associated with the condition, as well as potential etiological factors and disease classifications. The findings contribute to improved understanding, diagnosis, and management of cutaneous vasculitis. Further studies with larger cohorts are needed to validate and expand upon these findings.

Применение нового комбинированного препарата, содержащего среднецепочечные триглицериды, в лечении синдрома «сухого глаза»

Background: the outer layer of the tear film is composed of nonpolar lipids, including free fatty acid esters, triglycerides (TG), and cholesterol esters. Alterations in their qualitative and quantitative composition can result in evaporative dry eye, which requires pathogenic treatment. Somatic comorbidities, particularly type 2 diabetes (T2D), may act as a potential etiological factor. Aim: to assess the efficacy of a new complex medication containing medium chain TGs for the treatment of dry eye. Patients and Methods: a single-center, observational, single-stage, controlled single-sample, non-randomized study was conducted. Twenty-seven patients (mean age 52.5±0.5 years) were included in the study. Group 1 included 12 patients with dry eye and T2D. Group 2 included 15 patients with dry eye but no T2D. Patients received a complex medication containing medium chain TGs and carbomer for one month. In addition to standard and additional eye examinations, tearscopy and low-resolution mass spectrometry using LCQ Fleet (Thermo Scientific, Germany) were performed. Results: a reduction in the levels of TG and cholesterol was demonstrated in both groups. The reduction was more significant in group 1. A complex medication containing medium chain TGs and carbomer for one month improved functional indices in group 1 patients compared with baseline (p &lt;0.05). Corneal staining grade 1 was reported in 94% of group 1 patients. In group 2, corneal staining did not change significantly. Tearscopy revealed a significant improvement in the tear film lipid layer in group 1 (an increase in the lipid distribution coefficient and lipid thickness by 0.2 and 0.03, respectively) in comparison to group 2 (an increase by 0.1 and 0.02). Conclusions: decreased levels of TGs and cholesterol in T2D induce cellular dysfunction and inflammation in meibomian glands, thereby triggering dry eye development and/or worsening its course. In light of these considerations, complex medications containing TGs are necessary and reasonable. KEYWORDS: medium chain triglycerides, carbomer, meibomian gland dysfunction, dry eye, mass spectrometry, diabetes. FOR CITATION: Safonova T.N., Zaytseva G.V., Kravets K.Yu., Polyakov N.B. Novel complex medication containing medium chain triglycerides for the treatment of dry eye. Russian Journal of Clinical Ophthalmology. 2024;24(2):64–68 (in Russ.). DOI: 10.32364/2311- 7729-2024-24-2-4.

Single-Cell RNA Sequencing Reveals a Unique Fibroblastic Subset and Immune Disorder in Lichen Sclerosus Urethral Stricture.

Lichen sclerosus urethral stricture disease (LS USD) is a refractory and progressive disease primarily affecting the anterior urethra in males. Various potential etiological factors, such as genetics, autoimmunity, infection, and exposure to infectious urine, have been suggested. However, the accurate etiology of LS in the male urethra remains unclear. In this study, we conducted single-cell RNA sequencing to identify the transcriptional profiles of three patients with LS USD and three patients with non-LS USD. Immunofluorescence was used to confirm the single-cell sequence results. Our study revealed distinct subsets of vein endothelial cells (ECs), smooth muscle cells (SMCs), and fibroblasts (FBs) with high proportions in LS USD, contributing to the tissue microenvironment primarily involved in proinflammatory and immune responses. In particular, FBs displayed a unique subset, Fib7, which is exclusively present in LS USD, and exhibited high expression levels of SAA1 and SAA2. The accumulation of macrophages, along with the dysregulated ratios of M1/M2-like phenotype macrophages, may be engaged in the pathogenesis of LS USD. Through cell-cell communication analysis, we identified significant interactions involving CXCL8/ACKR1 and CCR7/CCL19 in LS USD. Remarkably, Fib7 exhibited exclusive communication with IL-1B macrophages through the SAA1/FPR2 receptor-ligand pair. Our study provides a profound understanding of the tissue microenvironment in LS USD, which may be valuable for understanding the pathogenesis of LS USD.

Unveiling the Dental Connection: A Case Report of Odontogenic Initiating Chronic Suppurative Otitis Media

ABSTRACT Chronic suppurative otitis media (CSOM) is a troubling condition that encompasses a range of factors contributing to its etiology. In this context, we present an intriguing and atypical case that adds a novel dimension to the understanding of CSOM. This particular case is marked by its prolonged and treatment-resistant nature, defying conventional medical treatments and prompting us to explore less common etiological pathways. Our case, however, deviates from the norm. It presents a conundrum that led us to investigate an alternative and less explored avenue. During our comprehensive diagnostic evaluation, our attention was drawn to the possibility of a hematogenic infection that may have originated from dental caries. This scenario emerged as the primary candidate for the source of the patient's chronic suppurative otitis media. This intriguing case represents a unique instance of a hematogenic infection stemming from dental caries. The hematogenic pathway, while previously considered uncommon, may be the precipitating factor behind the development of chronic suppurative otitis media in this patient. This perspective widens our understanding of the various potential etiological factors contributing to CSOM and highlights the importance of considering less conventional sources of infection. In the context of otologic disorders, the case we present underscores the necessity of a thorough and holistic diagnostic approach, acknowledging that the origins of such conditions can often be multifaceted and not limited to the conventional causes. Furthermore, this case serves as a reminder for clinicians to maintain a high level of suspicion for atypical etiological pathways when faced with treatment-resistant and persistent manifestations of CSOM. Keywords: Chronic Suppurative Otitis Media, Dental Caries, Odontogenic, Hematogenic

Нейротрофический фактор головного мозга как потенциальный биомаркер неврологических нарушений у недоношенных детей

INTRODUCTION: Brain derived neurotrophic factor (BDNF) is a polypeptide homodimer involved in the processes of differentiation and development of brain neurons, regulation of neurogenesis, suppression of apoptosis, remodeling of hypoxically damaged neurons, inhibition of neurotoxic processes. Prematurity is known to be associated with enhanced morbidity and mortality, and the outcomes of this condition are influenced by both antenatal and postnatal factors. The infants born at 29–35 gestation weeks have reduced amount of the gray and white matter of cerebral cortex in the full-term equivalent, which affects further development of the nervous system. Currently, little data exist on the BDNF level in the critical period of neuron growth, especially in premature infants. That is why this review analyzes and generalizes the information from the domestic and international publications of the last 5 years devoted to investigation of the structure and role of the brain derived neurotrophic factor in the formation of cognitive abilities in premature newborns, and also the possibility of using BDNF as a potential etiological factor of complications associated with prematurity. CONCLUSION: Further long-term studies are needed to assess the level of BDNF in the blood of newborn children as a potential biomarker of neurological disorders with the further possibility of using them in clinical practice.