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Life (Basel, Switzerland) Jun 2024In patients presenting in the emergency department with acute vertigo, a rapid and accurate differential diagnosis is crucial, as posterior circulation strokes can mimic... (Review)
Review
In patients presenting in the emergency department with acute vertigo, a rapid and accurate differential diagnosis is crucial, as posterior circulation strokes can mimic acute vestibular losses, leading to inappropriate treatment. The diagnosis of vestibular neuritis is made based on the clinical manifestation and a bedside otoneurological assessment. In the clinical examination, an evaluation of the vestibulo-ocular reflex is the key element; however, the accuracy of the bedside head impulse test depends on the clinician's experience. Thus, new diagnostic methods are needed to objectify and facilitate such rapid vestibular evaluations. The aim of our paper is to provide a comprehensive review of the video head impulse test's application in the diagnosis of vestibular neuritis. Numerous studies have reported advantages that make this method helpful in detailed otoneurological evaluations; in contrast to the bedside head impulse test, it enables an analysis of all six semicircular canals function and records the covert corrective saccades, which are invisible to the naked eye. As a portable and easy diagnostic tool, it is known to improve the diagnostic accuracy in patients with acute vertigo presenting in the emergency department. Moreover, as it evaluates the vestibulo-ocular reflex across different frequencies, as compared to caloric tests, it can be used as an additional test that is complementary to videonystagmography. Recently, several papers have described the application of the video head impulse test in follow-up and recovery evaluations in patients with vestibular neuritis.
PubMed: 38929740
DOI: 10.3390/life14060757 -
Medicina (Kaunas, Lithuania) Jun 2024Patients with movement disorders such as Parkinson's disease (PD) living in remote and underserved areas often have limited access to specialized healthcare, while the... (Review)
Review
Patients with movement disorders such as Parkinson's disease (PD) living in remote and underserved areas often have limited access to specialized healthcare, while the feasibility and reliability of the video-based examination remains unclear. The aim of this narrative review is to examine which parts of remote neurological assessment are feasible and reliable in movement disorders. Clinical studies have demonstrated that most parts of the video-based neurological examination are feasible, even in the absence of a third party, including stance and gait-if an assistive device is not required-bradykinesia, tremor, dystonia, some ocular mobility parts, coordination, and gross muscle power and sensation assessment. Technical issues (video quality, internet connection, camera placement) might affect bradykinesia and tremor evaluation, especially in mild cases, possibly due to their rhythmic nature. Rigidity, postural instability and deep tendon reflexes cannot be remotely performed unless a trained healthcare professional is present. A modified version of incomplete Unified Parkinson's Disease Rating Scale (UPDRS)-III and a related equation lacking rigidity and pull testing items can reliably predict total UPDRS-III. UPDRS-II, -IV, Timed "Up and Go", and non-motor and quality of life scales can be administered remotely, while the remote Movement Disorder Society (MDS)-UPDRS-III requires further investigation. In conclusion, most parts of neurological examination can be performed virtually in PD, except for rigidity and postural instability, while technical issues might affect the assessment of mild bradykinesia and tremor. The combined use of wearable devices may at least partially compensate for these challenges in the future.
Topics: Humans; Telemedicine; Movement Disorders; Neurologic Examination; Parkinson Disease; Tremor
PubMed: 38929575
DOI: 10.3390/medicina60060958 -
Medicina (Kaunas, Lithuania) May 2024Amyotrophic lateral sclerosis (ALS) is an incurable rare neurodegenerative condition, with 45% of cases showing the symptom of dysphagia; its clinical signs are atrophy,...
Amyotrophic lateral sclerosis (ALS) is an incurable rare neurodegenerative condition, with 45% of cases showing the symptom of dysphagia; its clinical signs are atrophy, weakness, and fasciculations of the facial muscles, tongue, and pharynx. Furthermore, dysphagia is the main cause of aspiration pneumonia. The traditional treatment for dysphagia varies based on the patient's difficulty of swallowing. The initial phase consists of dietary consistency adjustments, progressing to alternatives like nasogastric tubes or percutaneous endoscopic gastrostomy (PEG) in advanced stages. Osteopathic manipulative treatment (OMT) is a complementary 'hands-on' approach that has already shown positive results as an add-on therapy in various health conditions. This study is a case report of a man diagnosed with ALS with initial dysphagia, managed with a protocol that extraordinarily included OMT. The patient showed somatic dysfunctions in the mediastinal region, upper cervical region, and occipital area which are all anatomically related to the nervous system, especially the glossopharyngeal reflex. At the end of the rehabilitation protocol, there was a reduction in the swallowing problems measured with Strand Scale and swallowing tests, and the patient reported an improved psycho-physical well-being assessed with the Amyotrophic Lateral Sclerosis Assessment Questionnaire (ALSAQ-40). Instead, the neurological function measured with ALSFRS-S remained stable. Although the nature of this study design prevents any causal assumption, the positive results should lead to future randomized controlled trials to assess the effectiveness of OMT as an adjunctive therapeutic proposal to improve the health of ALS patients.
Topics: Humans; Amyotrophic Lateral Sclerosis; Male; Deglutition Disorders; Middle Aged; Manipulation, Osteopathic; Treatment Outcome
PubMed: 38929462
DOI: 10.3390/medicina60060845 -
International Journal of Environmental... Jun 2024Nature prescription programs have become more common within healthcare settings. Despite the health benefits of being in nature, nature prescriptions within the context...
Nature prescription programs have become more common within healthcare settings. Despite the health benefits of being in nature, nature prescriptions within the context of Indigenous Peoples have received little attention. We therefore sought to answer the following question: What are circumpolar-based physicians' and Indigenous Elders' views on nature prescribing in the Northwest Territories, Canada? We carried out thirteen semi-structured interviews with physicians between May 2022 and March 2023, and one sharing circle with Indigenous Elders in February 2023. Separate reflexive thematic analysis was carried out to generate key themes through inductive coding of the data. The main themes identified from the physician interviews included the importance of cultural context; barriers with nature prescriptions in the region; and the potential for nature prescriptions in the North. Reflections shared by the Elders included the need for things to be done in the right way; the sentiment that the Land is not just an experience but a way of life; and the importance of traditional food as a connection with Nature. With expanding nature prescription programs, key considerations are needed when serving Indigenous communities. Further investigation is warranted to ensure that nature prescriptions are appropriate within a given context, are inclusive of supporting Land-based approaches to health and wellbeing, and are considered within the context of Indigenous self-determination.
Topics: Female; Humans; Indigenous Canadians; Nature; Northwest Territories; Physicians; Qualitative Research
PubMed: 38929052
DOI: 10.3390/ijerph21060806 -
International Journal of Environmental... May 2024Female genital mutilation or cutting (FGM/C) is a practice involving the partial or complete removal of the external female genitalia for non-medical reasons. To...
Understanding Professionals' Knowledge Regarding Factors Influencing Changes in Attitudes toward Female Genital Mutilation/Cutting in Post-Migration Communities in Geneva, Switzerland.
Female genital mutilation or cutting (FGM/C) is a practice involving the partial or complete removal of the external female genitalia for non-medical reasons. To facilitate attitude changes, the ecological model of behavior change considers multiple levels of influence and their relationships with environmental and behavioral factors. The combined effects of migration and cultural adaptation result in a transformative process that leads to decreased support for FGM/C. This qualitative study aimed to gain knowledge from FGM/C field professionals regarding the factors promoting behavioral changes in migrant communities in Geneva, Switzerland. Between September and October 2023, we conducted semi-structured interviews using a reflexive thematic analysis. Our qualitative research is reported in accordance with the COREQ criteria. A data analysis was performed using NVivo 14 software. Four influential dimensions were identified, each with associated factors. The first dimension, the social level, includes (1) the impact and implementation of anti-FGM/C laws. The second dimension, the community level, encompasses four factors such as (2) religion, (3) a multifaceted examination of social aspects, (4) navigating language barriers and raising awareness, and (5) cultural adaptation processes. The third dimension, the interpersonal level, includes factors such as (6) changing views on the marriage prerequisite. Finally, the fourth dimension, the personal level, is associated with (7) women's experiences and perspectives regarding FGM/C. The findings highlight seven environmental factors, both within and across dimensions of the ecological model, that interact with human behavior to enable an adaptive cultural process. This process influences changes in attitudes and behaviors regarding FGM/C.
Topics: Switzerland; Humans; Circumcision, Female; Female; Health Knowledge, Attitudes, Practice; Adult; Transients and Migrants; Middle Aged; Qualitative Research; Male
PubMed: 38928963
DOI: 10.3390/ijerph21060716 -
Diagnostics (Basel, Switzerland) Jun 2024This review aims to provide a comprehensive overview of the diagnosis of brain death/death by neurologic criteria (BD/DNC) by emphasizing the clinical criteria... (Review)
Review
This review aims to provide a comprehensive overview of the diagnosis of brain death/death by neurologic criteria (BD/DNC) by emphasizing the clinical criteria established by the American Academy of Neurology (AAN) in light of their updated guidelines released in 2023. In this review, we will focus on the current implementation of ancillary tests including the catheter cerebral angiogram, nuclear scintigraphy, and transcranial Doppler, which provide support in diagnoses when clinical examination and apnea tests are inconclusive. Finally, we will also provide examples to discuss the implementation of certain imaging studies in the context of diagnosing BD/DNC. Recent developments in the field of neurology have emphasized the importance of clinical criteria for diagnosing BD/DNC, with the AAN providing clear updated guidelines that include coma, apnea, and the absence of brainstem reflexes. Current ancillary tests, including the catheter cerebral angiogram, nuclear scintigraphy, and transcranial Doppler play a crucial role in confirming BD/DNC when the clinical assessment is limited. The role of commonly used imaging studies including computed tomography and magnetic resonance angiographies of the brain as well as CT/MR perfusion studies will also be discussed in the context of these new guidelines. BD/DNC represents the permanent cessation of brain functions, including the brainstem. This review article provides the historical context, clinical criteria, and pathophysiology that goes into making this diagnosis. Additionally, it explores the various ancillary tests and selected imaging studies that are currently used to diagnose BD/DNC under the newly updated AAN guidelines. Understanding the evolution of how to effectively use these diagnostic tools is crucial for healthcare professionals who encounter these BD/DNC cases in their practice.
PubMed: 38928702
DOI: 10.3390/diagnostics14121287 -
Brain Sciences Jun 2024Automated pupillometry (AP) is a handheld, non-invasive tool that is able to assess pupillary light reflex dynamics and is useful for the detection of intracranial...
BACKGROUND
Automated pupillometry (AP) is a handheld, non-invasive tool that is able to assess pupillary light reflex dynamics and is useful for the detection of intracranial hypertension. Limited evidence is available on acute ischemic stroke (AIS) patients. The primary objective was to evaluate the ability of AP to discriminate AIS patients from healthy subjects (HS). Secondly, we aimed to compute a predictive score for AIS diagnosis based on clinical, demographic, and AP variables.
METHODS
We included 200 consecutive patients admitted to a comprehensive stroke center who underwent AP assessment through NPi-200 (NeurOptics) within 72 h of stroke onset and 200 HS. The mean values of AP parameters and the absolute differences between the AP parameters of the two eyes were considered in the analyses. Predictors of stroke diagnosis were identified through univariate and multivariate logistic regressions; we then computed a nomogram based on each variable's β coefficient. Finally, we developed a web app capable of displaying the probability of stroke diagnosis based on the predictive algorithm.
RESULTS
A high percentage of pupil constriction (CH, < 0.001), a low constriction velocity (CV, = 0.002), and high differences between these two parameters ( = 0.036 and = 0.004, respectively) were independent predictors of AIS. The highest contribution in the predictive score was provided by CH, the Neurological Pupil Index, CV, and CV absolute difference, disclosing the important role of AP in the discrimination of stroke patients.
CONCLUSIONS
The results of our study suggest that AP parameters, and in particular, those concerning pupillary constriction, may be useful for the early diagnosis of AIS.
PubMed: 38928617
DOI: 10.3390/brainsci14060616 -
International Journal of Molecular... Jun 2024The 5xFAD transgenic mouse model widely used in Alzheimer's disease (AD) research recapitulates many AD-related phenotypes with a relatively early onset and aggressive... (Review)
Review
The 5xFAD transgenic mouse model widely used in Alzheimer's disease (AD) research recapitulates many AD-related phenotypes with a relatively early onset and aggressive age-dependent progression. Besides developing amyloid peptide deposits alongside neuroinflammation by the age of 2 months, as well as exhibiting neuronal decline by the age of 4 months that intensifies by the age of 9 months, these mice manifest a broad spectrum of behavioural impairments. In this review, we present the extensive repertoire of behavioural dysfunctions in 5xFAD mice, organised into four categories: motor skills, sensory function, learning and memory abilities, and neuropsychiatric-like symptoms. The motor problems, associated with agility and reflex movements, as well as balance and coordination, and skeletal muscle function, typically arise by the time mice reach 9 months of age. The sensory function (such as taste, smell, hearing, and vision) starts to deteriorate when amyloid peptide buildups and neuroinflammation spread into related anatomical structures. The cognitive functions, encompassing learning and memory abilities, such as visual recognition, associative, spatial working, reference learning, and memory show signs of decline from 4 to 6 months of age. Concerning neuropsychiatric-like symptoms, comprising apathy, anxiety and depression, and the willingness for exploratory behaviour, it is believed that motivational changes emerge by approximately 6 months of age. Unfortunately, numerous studies from different laboratories are often contradictory on the conclusions drawn and the identification of onset age, making preclinical studies in rodent models not easily translatable to humans. This variability is likely due to a range of factors associated with animals themselves, housing and husbandry conditions, and experimental settings. In the forthcoming studies, greater clarity in experimental details when conducting behavioural testing in 5xFAD transgenic mice could minimise the inconsistencies and could ensure the reliability and the reproducibility of the results.
Topics: Animals; Alzheimer Disease; Disease Models, Animal; Mice, Transgenic; Mice; Humans; Behavior, Animal; Memory; Amyloid beta-Peptides
PubMed: 38928472
DOI: 10.3390/ijms25126766 -
International Journal of Molecular... Jun 2024Mutations in the gene are associated with autosomal recessive spastic ataxia of Charlevoix-Saguenay disease (ARSACS) or complex clinical phenotypes of...
Mutations in the gene are associated with autosomal recessive spastic ataxia of Charlevoix-Saguenay disease (ARSACS) or complex clinical phenotypes of Charcot-Marie-Tooth disease (CMT). This study aimed to identify mutations in a Korean CMT cohort with cerebellar ataxia and spasticity by whole exome sequencing (WES). As a result, eight pathogenic mutations in four families were identified as the underlying causes of these complex phenotypes. The prevalence of CMT families with mutations was determined to be 0.3%. All the patients showed sensory, motor, and gait disturbances with increased deep tendon reflexes. Lower limb magnetic resonance imaging (MRI) was performed in four patients and all had fatty replacements. Of note, they all had similar fatty infiltrations between the proximal and distal lower limb muscles, different from the neuromuscular imaging feature in most CMT patients without mutations who had distal dominant fatty involvement. Therefore, these findings were considered a characteristic feature in CMT patients with mutations. Although further studies with more cases are needed, our results highlight lower extremity MRI findings in CMT patients with mutations and broaden the clinical spectrum. We suggest screening for in recessive CMT patients with complex phenotypes of ataxia and spasticity.
Topics: Humans; Male; Charcot-Marie-Tooth Disease; Female; Mutation; Adult; Republic of Korea; Muscle Spasticity; Heterozygote; Cohort Studies; Middle Aged; Magnetic Resonance Imaging; Heat-Shock Proteins; Pedigree; Exome Sequencing; Cerebellar Ataxia; Phenotype; Adolescent; Young Adult
PubMed: 38928084
DOI: 10.3390/ijms25126378 -
Cancers Jun 2024The identification of fusions in advanced non-small-cell lung carcinoma (aNSCLC) is mandatory for targeted therapy. The current diagnostic approach employs an algorithm...
The identification of fusions in advanced non-small-cell lung carcinoma (aNSCLC) is mandatory for targeted therapy. The current diagnostic approach employs an algorithm using ALK immunohistochemistry (IHC) screening, followed by confirmation through FISH and/or next-generation sequencing (NGS). Challenges arise due to the infrequency of fusions (3-7% of aNSCLC), the suboptimal specificity of ALK IHC and FISH, and the growing molecular demands placed on small tissue samples, leading to interpretative, tissue availability, and time-related issues. This study investigates the effectiveness of RNA NGS as a reflex test for identifying fusions in NSCLC, with the goal of replacing ALK IHC in the systematic screening process. The evaluation included 1246 NSCLC cases using paired techniques: ALK IHC, FISH, and NGS. ALK IHC identified 51 positive cases (4%), while RNA NGS detected alterations in 59 cases (4.8%). Of the 59 -positive cases identified via NGS, 53 (89.8%) were confirmed to be positive. This included 51 cases detected via both FISH and IHC, and 2 cases detected only via FISH, as they were completely negative according to IHC. The combined reporting time for ALK IHC and FISH averaged 13 days, whereas ALK IHC and RNA NGS reports were obtained in an average of 4 days. These results emphasize the advantage of replacing systematic ALK IHC screening with RNA NGS reflex testing for a more comprehensive and accurate assessment of status.
PubMed: 38927925
DOI: 10.3390/cancers16122219