Diagnosis Of Disorders Research Articles

The Revolution of Genetic Diagnosis: An Example from Rare Disorders

Since the advent of DNA sequencing, genetic analyses have been increasingly incorporated into clinical practice to support the diagnosis of rare disorders [...]

Hippocampal contributions to biologic, behavioral and cognitive deficits in autism: An update review

The most characteristic symptoms for the diagnosis of autism spectrum disorder (ASD) and the future life of the individual are deterioration in social communication and stereotyped or repetitive behaviors. ASD is associated with diverse atypical difficulties, including memory, learning, language, emotion, and cognitive impairment. Consequently, the hippocampus is important for memory, learning, language ability, emotional regulation, and cognitive mapping. Thus, the hippocampus plays an influential role in the pathophysiological mechanisms of ASD. Here, we provide an updated review of hippocampal structural and functional abnormalities and highlight the hippocampus as an important area for future research.

Improved diagnostic confidence using Super Resolution CEUS imaging in testicular lesions.

Ultrasound is the most used interdisciplinary non-ionizing imaging technique in clinical pathologies of the testis. The testis may be affected by a plethora of different disorders such as vasculopathies, trauma, infections and manifestations of primary and secondary malignant masses. Conventional ultrasound represents the basic imaging modality of choice to assess scrotal disorders. Contrast-enhanced ultrasound (CEUS) can provide further information to distinguish between benign and malignant testicular mass lesions. The recent introduction of Super Resolution CEUS Micro-Vascular Imaging (MVI SR) and Time of Arrival (TOA SR) parametric mapping compliments the information provided by conventional CEUS, since these two new post-processing techniques improve the visualization of microvascular structures with slow blood flow and provide high-resolution images of the peak contrast enhancement and temporal perfusion patterns. This paper gives a comprehensive overview of differential diagnoses of the testicular disorder and their corresponding sono-morphologic correlates based on representative cases of the Interdisciplinary Ultrasound Center of the University Hospital Munich.

Computer-assisted morphometric analysis of the relationship between the coronoid and condylar processes of the mandible

: The mandible is the most durable and only movable bone that constitutes the lower one-third of the face.The mandibular condyle and coronoid processes are two anatomical structures located in the superior portion of the ramus of the mandible. Morphometric understanding of these structures is key to the diagnosis of various disorders associated with the temporomandibular region. It also aids in devising a plan for the management of such disorders.: The purpose of this study is to evaluate the anatomical corelation between the condyle and coronoid of the mandible.: This retrospective study was conducted by obtaining 100 high-resolution computed tomography images from departmental archived records between 2018 and 2024. After acquisition, these images were incorporated into MIMICS Materialize software to create stereolithography models, and morphometric analysis was carried out. Out of 100 HRCT data obtained, 87 were male and 13 were female. There is a statistically significant difference in length and angulation of the coronoid and condyle on both sides. The condyle length for males was (4 ± 5.5 mm) higher than the condyle length of females on both sides. However, the coronoid length of males and females varies in a range of 0.5-2mm on both sides of the mandible. Understanding the morphological variation of mandibular condylar and coronoid processes aids in various fields of medicine like forensics, anthropology, and reconstructive maxillofacial surgery. Our study inference will aid surgeons in planning coronoid grafts for condylar reconstruction as well as other maxillofacial reconstructions. Additionally, it helps in forensic odontology to determine a person's age and gender.

Neonatal Hemochromatosis Secondary to an Inborn Error of Metabolism (Mitochondrial Disorder): Post- mortem Diagnosis in the Fetus of a Young Primipara

Abstract Introduction/Objective Neonatal hemochromatosis (NH), an extremely rare congenital phenotype of acute hepatic failure with hepatic and extrahepatic siderosis, is primarily (98%) caused by gestational alloimmune liver disease (GALD) and, rarely (2%), by infection, metabolic disorders, bile acid defects, and mitochondrial hepatopathy. This report presents an extremely rare case of NH caused by an inborn error of metabolism (suspected mitochondrial dysfunction). This low-birth-weight female was born with acute liver failure, metabolic acidosis, multisystem failure, and progressive lactate acidosis, and expired on day 7. On autopsy, liver was less than 50% of normal size and without nodularity. Microscopic architecture was preserved with erythropoiesis, canalicular bile plugs, microvesicular steatosis (oil red O stain) and abundant coarsely granular siderosis (iron stain). GALD was unlikely because of the absence of the typical hepatocytic injury, fibrosis or biliary destruction, and the negative immunohistochemistry for MAC (C5b-C9). Extrahepatic siderosis was demonstrated in thyroid follicles, thymic Hassall corpuscles, myocardium, and adenohypophysis. Sanger sequencing and deletion testing of mitochondrial genome on a maternal buccal biopsy identified a homoplasmic variant (m.15482 T>C p.(S246P) in maternal MT-CYB gene but without molecular diagnosis of a mitochondrial DNA disorder. Infant plasma had increased C6DC, C5, C12-OH acylcarnitine, alanine, and proline. Urine contained elevated organic acids (lactate/pyruvate, 2-ketoacids, 3-methylglutarate, 3-methylglutaconate), concerning acute mitochondrial respiratory chain dysfunction. Methods/Case Report: Case Study Results (if a Case Study enter NA) NA Conclusion Diagnosis of NH warrants exclusion of the most common etiology, GALD. Mitochondrial genetic mutations are the most difficult to diagnosis because of heterogeneity and typically undiagnosed maternal defects. This is the first report of NH with a homoplasmic maternal variant of uncertain significance. Neonatal lactic acidosis is the strongest clinical clue for mitochondrial dysfunction and should trigger phenotyping, maternal mitochondrial genetic variants (mtDNA, nuDNA), functional, biochemical, and genetic studies.

A genome-first study of sex chromosome aneuploidies provides evidence of Y chromosome dosage effects on autism risk

A female protective effect has long been postulated as the primary explanation for the four-fold increase of autism spectrum disorder (ASD) diagnoses in males versus females. However, genetic and epidemiological investigations of this hypothesis have so far failed to explain the large difference in ASD prevalence between the sexes. To address this knowledge gap, we examined sex chromosome aneuploidy in a large ASD case-control cohort to evaluate the relationship between X and Y chromosome dosage and ASD risk. From these data, we modeled three relationships between sex chromosome dosage and ASD risk: the extra Y effect, the extra X effect, and sex chromosome haploinsufficiency. We found that the extra Y effect increased ASD risk significantly more than the extra X effect. Among females, we observed a large association between 45, X and ASD, confirming sex chromosome haploinsufficiency as a strong ASD risk factor. These results provide a framework for understanding the relationship between X and Y chromosome dosage on ASD, which may inform future research investigating genomic contributors to the observed sex difference.

Multi-level processing of emotions in life motion signals revealed through pupil responses

Perceiving emotions from the movements of other biological entities is critical for human survival and interpersonal interactions. Here, we report that emotional information conveyed by point-light biological motion (BM) triggered automatic physiological responses as reflected in pupil size. Specifically, happy BM evoked larger pupil size than neutral and sad BM, while sad BM induced a smaller pupil response than neutral BM. Moreover, this happy over sad pupil dilation effect is negatively correlated with individual autistic traits. Notably, emotional BM with only local motion features retained could also exert modulations on pupils. Compared with intact BM, both happy and sad local BM evoked stronger pupil responses than neutral local BM starting from an earlier time point, with no difference between the happy and sad conditions. These results revealed a fine-grained pupil-related emotional modulation induced by intact BM and a coarse but rapid modulation by local BM, demonstrating multi-level processing of emotions in life motion signals. Taken together, our findings shed new light on BM emotion processing, and highlight the potential of utilizing the emotion-modulated pupil response to facilitate the diagnosis of social cognitive disorders.

Multi-level processing of emotions in life motion signals revealed through pupil responses.

Perceiving emotions from the movements of other biological entities is critical for human survival and interpersonal interactions. Here, we report that emotional information conveyed by point-light biological motion (BM) triggered automatic physiological responses as reflected in pupil size. Specifically, happy BM evoked larger pupil size than neutral and sad BM, while sad BM induced a smaller pupil response than neutral BM. Moreover, this happy over sad pupil dilation effect is negatively correlated with individual autistic traits. Notably, emotional BM with only local motion features retained could also exert modulations on pupils. Compared with intact BM, both happy and sad local BM evoked stronger pupil responses than neutral local BM starting from an earlier time point, with no difference between the happy and sad conditions. These results revealed a fine-grained pupil-related emotional modulation induced by intact BM and a coarse but rapid modulation by local BM, demonstrating multi-level processing of emotions in life motion signals. Taken together, our findings shed new light on BM emotion processing, and highlight the potential of utilizing the emotion-modulated pupil response to facilitate the diagnosis of social cognitive disorders.

Pathologic findings of the placenta and clinical implications - recommendations for placental examination.

The placenta is a unique and complex organ that combines the circulatory systems of two or more individuals within a single dynamic organ with a set, short lifespan. A diverse spectrum of disorders, including infections as well as metabolic, genetic, circulatory, and maturation defects, may affect its function. Pathology investigation of the placenta is key for identifying several pathogenic processes in both the mother and the foetus. Aberrant placentation, maternal and foetal vascular compromise, infection, inflammatory immunologic conditions, and disorders of maturation are elements of newly proposed classification schemes. The clinical impact of placental examination consists of diagnosing maternal and foetal disease, identifying the potential for recurrence, correlating clinical pathological findings with distinct morphologic features, and identifying the aetiology responsible for growth restriction or foetal death. Gestational trophoblastic disease occurs more frequently in the first trimester; however, in very rare cases, it can affect the term or third-trimester placenta. The application of reproducible nomenclature is expected to facilitate progress in the diagnosis and treatment of obstetric and foetal disorders with placental manifestation. Therefore, this review aims to facilitate communication between obstetricians, neonatologists, and pathologists involved in this diagnostic process.

Osteoarthritis and Neurological Disorder Diagnoses in Adults: A Meta-Analysis Examining Associations With Parkinson's Disease, Multiple Sclerosis, and Alzheimer's Disease

Osteoarthritis and Neurological Disorder Diagnoses in Adults: A Meta-Analysis Examining Associations With Parkinson's Disease, Multiple Sclerosis, and Alzheimer's Disease

Inconsistency in ferritin reference intervals across laboratories: a major concern for clinical decision making.

Iron deficiency anemia is a significant global health concern, diagnosed by measuring hemoglobin concentrations in combination with plasma ferritin concentration. This study investigated the variability in ferritin reference intervals among laboratories in the Netherlands and examined how this affects the identification of iron-related disorders. Ferritin reference intervals from 52 Dutch ISO15189-certified medical laboratories were collected. Ferritin, hemoglobin and mean corpuscular volume data of non-anemic apparently healthy primary care patients, measured by four laboratory platforms (Beckman, Abbott, Siemens, and Roche), were collected (n=397,548). Median ferritin levels were determined per platform, stratified by sex and age. The proportion of ferritin measurements outside of the reference interval was calculated using the reference intervals from the 52 laboratories (using a total of n=1,093,442 ferritin measurements). Lastly, ferritin data from 3,699 patients as captured in general practitioner (GP) data from the PHARMO Data Network were used to assess the variation of abnormal ferritin measurements per GP. Median plasma ferritin concentrations were approximately four times higher in men and twice as high in postmenopausal women compared to premenopausal women. Moreover, there are substantial differences in the median plasma ferritin concentration between the four platforms. However, even among laboratories using the same platform, ferritin reference intervals differ widely. This leads to significant differences in the percentages of measurements classified as abnormal, with the percentage of ferritin measurements below the reference limit in premenopausal women ranging from 11 to 53 %, in postmenopausal women from 3 to 37 %, and in men from 2 to 19 %. The percentage of ferritin measurements above the reference limit in premenopausal women ranged from 0.2 to 11 %, in postmenopausal women from 3 to 36 % and in men from 7 to 32 %. The lack of harmonization in ferritin measurement and the disagreement in plasma ferritin reference intervals significantly impact the interpretation of the iron status of patients and thereby the number of iron disorder diagnoses made. Standardization or harmonization of the ferritin assays and establishing uniform reference intervals and medical decision limits are essential to reduce the substantial variability in clinical interpretations of ferritin results.

Investigating the Association between Catechol-O-Methyltransferase Gene Activity and Pain Perception in South African Patients with Different Temporomandibular Disorders Diagnoses.

Background: Temporomandibular disorders (TMD) affect a significant portion of the population, with profound psychological, behavioral, and social repercussions. Recent investigations have explored the genetic basis underlying pain perception in individuals with TMD, aiming to elucidate the role of specific genetic factors in modulating the condition. Notably, genetic variations have been implicated in the pathogenesis of TMD, particularly genes involved in pain perception pathways. One of the primary candidates is the Catechol-O-Methyltransferase (COMT) gene, which plays a crucial role in the catecholaminergic system and has been associated with the regulation of nociceptive processes. This study seeks to investigate the correlation between COMT gene activity and pain perception among South African patients diagnosed with varying forms of TMD. Methodology: In this study, a total of 196 participants were enrolled, comprising 97 patients diagnosed with TMD and 99 control participants. The control group was meticulously matched with the TMD group for age, gender, and ethnicity. Data collection involved clinical and radiological investigations, and saliva sampling. The English version of the Diagnostic Criteria for Temporomandibular Disorders (DC/TMD) Axis I was utilized to evaluate all TMD participants, focusing on standard diagnostic measures based on clinical signs and symptoms of TMD, which primarily describe common physical manifestations of the disorder. Genomic DNA was extracted from saliva samples, enabling the analysis of single-nucleotide polymorphisms (SNPs) in the COMT gene, specifically targeting polymorphisms rs165774, rs9332377, rs6269, rs4646310, rs165656, and rs4680. Results: The current study demonstrated a pronounced gender disparity, with 80.41% of the participants being female and 19.59% male, suggesting that women in South Africa either exhibit a higher susceptibility to TMD or are more likely to seek treatment for the condition compared to men. The highest prevalence of TMD was observed in the white population (58.76%). Additionally, over 65% of TMD patients were diagnosed with at least two Axis I diagnoses, a figure that increased to 89% for those diagnosed with three Axis I diagnoses. The findings further indicated significant associations between several single-nucleotide polymorphisms (SNPs) in the Catechol-O-Methyltransferase (COMT) gene-specifically rs165656, rs9332377, rs4646310, rs6269, and rs165774-and both TMD and TMD-related pain. Myofascial pain with referral and myalgia showed a strong association with the COMT SNPs rs9332377 and rs4646310. Furthermore, COMT SNP rs4646310 was also associated with disability related to TMD. Conclusions: This study substantiates the hypothesis that pain is prevalent in a considerable proportion of patients affected by TMD. Furthermore, the findings reveal a significant association between COMT gene activity and pain perception in South African patients diagnosed with TMD.

Cohen syndrome: Can early-onset recurrent infections and hypotonia provide early diagnosis and intervention for intellectual disability?

Cohen syndrome is a rare disease associated with neurodevelopmental disorders, especially intellectual disability (ID), neutropenia and recurrent infections are consistently reported in cases. Neutropenia is an important part of the syndrome, as well as ID. Homozygous variants in the VPS13B gene, located on chromosome 8q22 and containing 62 exons, have been found to cause Cohen syndrome. Cohen syndrome is commonly diagnosed when dysmorphological findings and developmental delay become more apparent. However, the identification of some findings with increasing age has caused the diagnosis of Cohen syndrome to be delayed. Cases diagnosed with ID were evaluated using whole-exome sequencing/clinical exome sequencing method. Family segregation analysis was performed using Sanger sequencing. We presented the clinical and genetic findings of three cases diagnosed with Cohen syndrome and their parents in detail. In this study, we presented the occurrence of symptoms in different age groups, and the prognosis of three cases carrying the VPS13B gene variants, including three different variant types: missense, frameshift and nonsense. Although our cases had different variant types, they shared important similarities on the onset period and prognosis of the symptoms. All cases presented hypotonia, difficulties in swallowing, recurrent respiratory tract infections, neutropenia, delay in motor development, ID and hyperactivity. Our cases did not have a diagnosis of autism spectrum disorder. All cases had increased willingness to engage in social communication. We emphasize the importance of early-onset recurrent infections and hypotonia for early diagnosis and preventive genetic counselling in Cohen syndrome.

The Association Between Mental Health Literacy of Parents and Referral of Children and Adolescents to Mental Health Service Centers

Background: Mental health literacy refers to an individual’s knowledge and beliefs about mental health, which can aid in the detection, management, and prevention of mental illnesses. Prompt diagnosis of mental disorders is crucial for timely intervention and treatment. This study aims to investigate the mental health literacy and help-seeking behaviors of parents with children and adolescents under the age of 18. Methods: In this descriptive-analytical study, a cross-sectional design was utilized, and a surveying method was employed. A total of 134 parents of children and adolescents under 18, who were referred to the mental health service centers at Iran University of Medical Sciences and private psychiatric clinics in 2019 and 2020, participated in the study through convenient sampling. Two psychiatrists evaluated the psychiatric disorders of the children, and the parents completed the General Health Questionnaire-28 (GHQ-28) and the Mental Health Literacy Questionnaire. The collected data were analyzed using SPSS version 24. Results: The results of the one-way analysis of variance indicated that the total score of mental health literacy significantly differed among groups with varying levels of maternal education (p=0.001). Conclusion: This study underscores the impact of maternal education on mental health literacy among parents. Notably, parents with higher levels of education exhibited greater mental health literacy. It is essential to consider these findings in developing targeted interventions to improve mental health literacy among parents from diverse educational backgrounds. Further research should explore effective strategies for increasing awareness and knowledge about mental health in communities with varying levels of education.

Parent concerns prior to an assessment of autism spectrum disorder: A systematic review.

When a parent has concerns about their child's development, there is a lag between seeking and receiving health information. When waiting, parents may speculate about a possible diagnosis of autism spectrum disorder, but it is unclear what types of concerns might drive this speculation. To determine the types of concerns parents may have before their child is assessed, we conducted a systematic review that explored parent concerns before an autism spectrum disorder assessment. Our aim was to determine the types of concerns that might drive parents to seek medical help for their child's development. Four online databases were searched and 10 articles reporting on 9 studies matched our inclusion criteria. In these cohorts, parents reported autism spectrum disorder-specific concerns (i.e. communication, social or stereotyped behaviour concerns) or non-autism spectrum disorder-specific concerns (i.e. behaviour/temperament, developmental, medical, sensory or motor concerns). Some parents also reported on their positive and negative thoughts of a potential autism spectrum disorder diagnosis and what the diagnosis would mean to them. The most reported parental concerns before an assessment were speech and language, social and behavioural. To understand the types of concerns parents have once they seek medical help, further research into how families speculated a possible autism spectrum disorder is recommended.

Evaluating Agreement Between Medical Record Diagnoses and Independent Evaluator Diagnoses in a Community-Based Effectiveness Study

ABSTRACT Background Youth anxiety disorders are prevalent but undertreated. Poor diagnostic agreement between clinicians and researchers may contribute to misdiagnosis and mistreatment. However, few studies of diagnostic agreement focus specifically on anxiety disorders. Objective The current study evaluates diagnostic agreement between community clinicians and independent evaluators (IE) associated with a research study. Method IEs administered the Anxiety Disorders Interview Schedule for DSM-5, Child Version, Child and Parent Forms to youth participating in a randomized controlled trial. Diagnostic agreement was assessed using Cohen’s kappas. Youth (N = 103) were about 14.3 years old (SD = 1.6), largely cis-gender female (66%, n = 68), heterosexual (57.3%, n = 59), Hispanic/Latinx (53.4%, n = 55), and White (53.4%, n = 55). Results IEs assigned significantly more diagnoses than community clinicians (t(99)=-12.738, d = 1.66, p < .001). Individual diagnoses were collapsed into diagnostic clusters: anxiety, depression, trauma and stressor, obsessive-compulsive, and behavioral disorders. There was no agreement for anxiety, trauma and stressor, obsessive-compulsive clusters (ks < 0.20). The depression cluster showed minimal agreement (k = 0.28, p < .001), and behavioral disorders showed weak agreement (k = 0.49, p < .001). There was no agreement for four individual anxiety disorder diagnoses (ks < 0.20) except for panic disorder, which had minimal agreement (k = .32, p < .001). Four additional anxiety disorder diagnoses could not be analyzed due to no diagnoses in one or both settings. Discussion This study shows diagnostic agreement is poor between clinicians and researchers, especially for anxiety disorders. Findings suggest that semi-structured interviews can detect diagnoses that are being missed by clinicians. Future work should seek to identify and address barriers to implementation of evidenced-based assessments in community settings.

Current Diagnosis of Bleeding Disorders in Lower Income Countries.

There have been considerable advances in diagnosing and treating bleeding disorders. But the scenario remains dismal in resource-constrained settings in low and lower-middle-income countries (LMICs). Seventy-five percent of the patients with inherited bleeding disorders do not get diagnosed in LMICs. In resource-constrained settings, infectious disease and malignancies take the major focus. Bleeding disorders do not get prioritised in LMICs, and this leads to underdiagnoses and suboptimal treatment. There are various challenges like financial status, inadequacy of health care infrastructure, lack of patient registry and lack of awareness across medical staff, general population and government stakeholders. The lack of skilled laboratory personnel and laboratory infrastructure for optimal bleeding disorder diagnosis adds on to the problem. World Federation of Hemophilia (WFH) has been at the forefront in developing strategies to overcome some of these inadequacies; however, more active participation of the stakeholders including patients, medical professionals and policy makers is the need of the hour. This review highlights the different challenges in LMICs in diagnosing bleeding disorders, the gap between high-income countries and LMICs and the possible strategies in closing the gap.

The belief that being high is a natural part of your personality predicts an increase in manic symptoms over time in bipolar disorder.

Several psychological models of bipolar disorder propose that certain types of appraisals can lead to increases in manic symptoms. We tested whether the belief that being 'high' is a natural part of one's personality and correlates with manic symptoms 4 months later when controlling for manic symptoms at baseline. This was a prospective 4-month follow-up design using self-report measures. Forty people with a diagnosis of bipolar disorder completed a measure of manic symptoms, a measure of appraisals associated with bipolar disorder, and a single-item measure, 'To what extent do you feel like being "high" is a natural part of your personality?', at baseline and follow-up. The single-item measure showed modest stability over time and construct validity in its correlation with a standardised measure of appraisals in bipolar disorder. As predicted, the single-item measure correlated with manic symptoms at follow-up when controlling for manic symptoms at baseline. The belief that being 'high' is a natural part of one's personality is a potential predictor of manic symptoms. Further research needs to study the potential mediating mechanisms such as activating behaviours, and control for indicators of the bipolar endophenotype.

Informative value of diagnostic imaging methods in the detection of subepithelial formations of the stomach: a clinical case

INTRODUCTION: Subepithelial formations (SubEO) of the upper gastrointestinal tract (GI tract) are asymptomatic in most cases, and are a diagnostic finding in routine studies. Given the risk of malignancy of some SubEO, the question of treatment tactics remains relevant today: observation or surgical intervention.PURPOSE: To demonstrate diagnostic capabilities at the outpatient stage when choosing observational tactics in a patient with SubEO.MATERIALS AND METHODS: A dynamic observation of a 68-year-old woman with a randomly identified SubEO was demonstrated. The patient has been observed by a gastroenterologist since 2005 with a diagnosis of functional disorder of the gallbladder and sphincter of Oddi. In August 2022, when contacting the clinic with complaints of epigastric pain and heartburn, the following studies were performed: gastroscopy (FGDS), endoscopic ultrasound (EUS) with fine needle puncture, transabdominal ultrasound (TAUZI), computed tomography (CT) of the abdominal cavity, during which a submucosal formation of the stomach was diagnosed. The picture is more consistent with a gastrointestinal stromal tumor (GISO). Given the small size of the formation, the surveillance tactic was chosen. At the time of 12.2023, according to the results of control studies of the SubEO without dynamics.RESULTS: The follow-up period was 17 months, the results of the control studies justified the wait-and-see tactics and allowed avoiding unjustified surgical interventions and intraoperative complications.CONCLUSION: The combined use of TAUZI with endoscopy contributes to a better differential diagnosis and the choice of adequate treatment tactics.

Ocular Movement Examination in Peripheral Vestibular Disorders as a Tool to Improve Diagnosis: A Literature Review.

Background and Objectives: This study reviews the current literature on ocular movements, specifically focusing on nystagmus associated with peripheral vestibular disorders, to enhance diagnostic accuracy. The evaluation of ocular movements, particularly nystagmus, provides essential insights into the function and dysfunction of the vestibular system, helping clinicians distinguish between peripheral and central causes of vertigo and imbalance. Materials and Methods: A comprehensive search of PubMed was conducted using key terms such as "ocular movements", "nystagmus", "vestibular nystagmus", and "peripheral vestibular disorders". Results: The search yielded 2739 titles, and after a rigorous selection process, 52 articles were reviewed in full. Discussion: The review highlights different classifications and types of nystagmus, including physiological and pathological forms, and their diagnostic relevance in vestibular disorders such as benign paroxysmal positional vertigo (BPPV), vestibular neuritis, and Meniere's disease. Diagnostic techniques like video/electro-oculography are emphasized for their role in assessing vestibular function and identifying abnormalities. The study underscores the importance of detailed ocular examination in the diagnosis of peripheral vestibular disorders and proposes an algorithm to aid this process. Conclusions: While not a systematic review, this study highlights the importance of detailed ocular examination in diagnosing peripheral vestibular disorders and presents an algorithm to facilitate this process. It also emphasizes the need for continued research and advancements in vestibular medicine to further understand ocular movements and their clinical significance, ultimately contributing to improved patient outcomes.