Vestibulo-ocular reflex dynamics with head-impulses discriminates Usher patients type 1 and 2.

Usher Syndrome classification takes into account the absence of vestibular function but its correlation with genotype is not well characterized. We intend to investigate whether video Head Impulse Test (vHIT) is useful in screening and to differentiate Usher Syndrome types. 29 Usher patients (USH) with a genetically confirmed diagnosis and 30 healthy controls were studied with vHIT and dizziness handicap inventory questionnaire (DHI). Statistical significant differences between USH1, USH2 and controls were found in the vestibulo-ocular-reflex (VOR) gain of all SCCs, with USH1 patients consistently presenting smaller gains. VOR gain of the right lateral SCC could discriminate controls from USH1, and USH2 from USH1 with an overall diagnostic accuracy of 90%. USH1 DHI correlated with VOR (ρ = - 0,971, p = 0.001). Occurrence rate of covert and overt lateral semicircular canals refixation saccades (RS) was significantly different between groups, being higher in USH1 patients (p < 0.001). USH1 peak velocity of covert and overt saccades was higher for lateral semicircular canals (p < 0.05 and p = 0.001) compared with USH2 and controls. Covert saccades occurrence rate for horizontal SCCs could discriminate USH1 from USH2 patients and controls with a diagnostic accuracy of 85%. vHIT is a fast and non-invasive instrument which allowed us to screen and distinguish Usher patients from controls with a high precision. Importantly, its use allowed further discrimination between USH1 from USH2 groups. Moreover, VOR gain seems to correlate with vertigo-related quality of life in more severe phenotypes.

Recurrent Rhombencephalitis Associated With Anti-GAD65 Antibody.

A 66-year-old man developed diplopia, ataxia, and right-hand dexterity loss. Brain MRI revealed T2-hyperintensities in the right cerebellar peduncles, pons, medulla, and cerebellum (Figure 1, A-D).

Posterior semicircular canal cupulolithiasis during acute pontomedullary demyelination.

Positional vertigo poses a diagnostic challenge in people with multiple sclerosis (MS). The characteristics of positional nystagmus and its response to repositioning manoeuvres are usually sufficient to diagnose benign paroxysmal positional vertigo (BPPV). However, certain BPPV variants respond poorly to repositioning manoeuvres and their nystagmus pattern can resemble that of central positional vertigo caused by infratentorial demyelination. This diagnostic difficulty is particularly challenging if positional vertigo occurs during an MS relapse. We describe a woman with MS who developed a sixth nerve palsy and gaze-evoked nystagmus, caused by demyelination near or within areas classically involved in central positional vertigo. However, she also had positional vertigo from coincident BPPV (and not central positional vertigo). This was initially a treatment resistant-posterior semicircular canal cupulolithiasis but it later progressed to a posterior semicircular canal canalolithiasis, with symptoms promptly resolving after a repositioning manoeuvre.

Immune Thrombocytopenia Purpura Associated With COVID-19 Infection: A Challenging Diagnosis and Management.

The COVID-19 pandemic has posed unprecedented challenges in the field of medicine. Among its diverse manifestations, immune thrombocytopenia purpura (ITP) has emerged as a complication associated with COVID-19 infection. This case report presents a 90-year-old Caucasian male with a history of COVID-19 infection who developed acute hemoptysis, thrombocytopenia, and purpura. The diagnosis of ITP confirmed through exclusion criteria and clinical evaluation, occurred several weeks after the initial COVID-19 diagnosis. Differential diagnoses, including drug-induced thrombocytopenia, were carefully considered and excluded. The reported case highlights the importance of vigilance in identifying ITP as a potential complication of COVID-19 infection, even in the post-infection period. The timely initiation of appropriate treatment proved effective in managing the patient's condition. Collaboration among medical specialties facilitated comprehensive patient care, thereby reducing hospitalization periods. This case report serves as a crucial alert to physicians, underlining the need for ongoing monitoring of COVID-19 complications, especially as testing dwindles. By fostering interdisciplinary cooperation, healthcare professionals can optimize patient outcomes and effectively manage the multifaceted challenges associated with COVID-19 infection.

Effect of guided imagery relaxation on anxiety in cervical cancer: randomized clinical trial.

OBJECTIVES: to evaluate the effect of guided imagery relaxation through virtual reality on anxiety in women with cervical cancer undergoing radiochemotherapy. METHODS: randomized, non-blinded, single-center clinical trial conducted at a cancer reference hospital. 52 women participated, with randomized allocation of 24 in the control group and 28 in the experimental group (12 sessions of guided imagery relaxation through virtual reality, applied three times a week). The outcome was evaluated using the State-Trait Anxiety Inventory and statistical analysis was performed using the Generalized Linear Mixed Model. RESULTS: n the experimental group, women presented significant anxiety traits (p=0.010) before the intervention. Between the 4th and 12th week of follow-up, there was a reduction in anxiety levels, without statistical significance. CONCLUSIONS: guided imagery relaxation through virtual reality provided evidence of anxiety reduction in women with cervical cancer undergoing radiochemotherapy and may contribute to clinical practice. Brazilian Clinical Trial Registry: RBR-7ssvytb.

Adherence to the Mediterranean diet in young male soccer players.

INTRODUCTION: Nutrition is vital in health and sports performance by improving anthropometric-related parameters and dietary habits, especially in the youngest ages. The Mediterranean diet (MD) has been highly recognized for its positive health effects and low adverse environmental impact. OBJECTIVES: We aimed to characterize adherence to the MD and analyze its association with anthropometric parameters in young soccer players. METHODOLOGY: In the present study, 132 male young soccer players from under 9 to under 15 categories (aged 7 to 15 years) from a Portuguese football club participated. The Mediterranean Diet Quality Index for Children and Adolescents (KIDMED) questionnaire was applied to assess adherence to the MD. Anthropometric-related parameters, including body mass, height, triceps skinfold thickness (TSKF), suprailiac skinfold thickness (SISKF), body mass index (BMI) and body fat percentage (%BF), were determined. The differences between groups were performed accordingly to normal and non-normal distribution. Spearman's correlations were performed to analyze the hypothetical correlation between KIDMED and BMI. RESULTS: Players reached an average KIDMED score of 8.36 ± 1.92, showing that 68.2% (n = 90) reached high adherence to the MD, 31.1% (n = 41) had moderate adherence to the MD, and 0.78% (n = 1) had poor adherence to the MD. When the analysis was made for age group and BMI classification, no significant differences were observed in adherence to the MD. Considering the main characteristics of the MD, 50.8% consumed fruit (vs. 49,2%), 52.3% consumed vegetables (vs. 47,7%), and only 20% consumed oleaginous dried fruits (vs. 80%). Dairy consumption throughout the day was 49,2% (vs. no: 50,8%). CONCLUSION: Data from the present study showed that many soccer players adhered to the MD, and no differences were observed for age group or BMI classification.

Multisystemic RFC1-Related Disorder: Expanding the Phenotype Beyond Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.

Background and Objectives: The RFC1 spectrum has become considerably expanded as multisystemic features beyond the triad of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) have started to be unveiled, although many still require clinical replication. Here, we aimed to clinically characterize a cohort of RFC1-positive patients by addressing both classic and multisystemic features. In a second part of this study, we prospectively assessed small nerve fibers (SNF) and autonomic function in a subset of these RFC1-related patients. Methods: We retrospectively enrolled 67 RFC1-positive patients from multiple neurologic centers in Portugal. All patients underwent full neurologic and vestibular evaluation, as well as neuroimaging and neurophysiologic studies. For SNF and autonomic testing (n = 15), we performed skin biopsies, quantitative sensory testing, sudoscan, sympathetic skin response, heart rate deep breathing, and tilt test. Results: Multisystemic features beyond CANVAS were present in 82% of the patients, mainly chronic cough (66%) and dysautonomia (43%). Other features included motor neuron (MN) affection and motor neuropathy (18%), hyperkinetic movement disorders (16%), sleep apnea (6%), REM and non-REM sleep disorders (5%), and cranial neuropathy (5%). Ten patients reported an inverse association between cough and ataxia severity. A very severe epidermal denervation was found in skin biopsies of all patients. Autonomic dysfunction comprised cardiovascular (67%), cardiovagal (54%), and/or sudomotor (50%) systems. Discussion: The presence of MN involvement, motor neuropathy, small fiber neuropathy, or extrapyramidal signs should not preclude RFC1 testing in cases of sensory neuronopathy. Indeed, the RFC1 spectrum can overlap not only with multiple system atrophy but also with hereditary motor and sensory neuropathy, hereditary sensory and autonomic neuropathy, and feeding dystonia phenotypes. Some clinical-paraclinical dissociations can pose diagnostic challenges, namely large and small fiber neuropathy and sudomotor dysfunction which are usually subclinical.

Clinical Reasoning: A 24-Year-Old Pregnant Woman With Headache and Behavioral Change Progressing to Coma.

The broad differential diagnosis associated with progressive subacute encephalopathy can be intimidating, especially in a young, pregnant woman. In this case, a 24-year-old woman at 21 weeks of gestation presented with persistent, drug-resistant fronto-parietal headache, with subsequent progressive development of psychomotor lentification and inappropriate behavior. Physical examination was normal, as were routine laboratory parameters and CT findings, and these symptoms were initially interpreted in the context of chronic depression. Later, the patient developed generalized dystonia and fever, with rapid clinical deterioration, depression of consciousness and, eventually, progression to coma. This case emphasizes the complexity and challenges involved in the diagnostic approach to a patient with progressive subacute encephalopathy framed by worsening CNS symptoms. It highlights the clinical considerations and complementary investigation of various etiologies, in a step-by-step approach, ultimately leading to the final diagnosis. Early recognition and appropriate treatment of these conditions can lead to more favorable outcomes, particularly in gestating patients, where prompt intervention is crucial, and where critical decisions may have to be made regarding pregnancy and the safety of treatment options.

Dietary intakes and daily distribution patterns of macronutrients in youth soccer players.

Introduction: There has been an abundance of dietary analysis research conducted on adult male soccer players, while studies on youth players are lacking. Furthermore, the daily distribution of energy and macronutrient intake throughout the day has been reported to influence training adaptations, but this is often not considered in the literature. This study aims to quantify daily energy and macronutrient intake and assess their distribution over 5 days, and compare daily energy intakes and predicted daily energy expenditure in under-16 male soccer players. Methods: The sample included 25 soccer participants aged 14.8-15.7 years. Five-day self-reported food diaries were used to record the food/drink consumption. Intake was analyzed for total daily energy, macronutrient intakes, and distribution among meals (breakfast, lunch, dinner, and snacks). Daily energy expenditure was predicted by resting energy expenditure and physical activity levels developed for youth sports participants. Results: The mean total energy intake was 1,928 ± 388 kcal∙day-1, whereas the estimated daily energy expenditure was 3,568 kcal∙day-1. Relative daily protein intakes were lower at breakfast, morning snack, afternoon snack, and night snack compared to lunch and dinner. Discussion: Youth soccer players do not appear to meet energy requirements and daily CHO guidelines. Fluctuations in protein intake throughout the day were noted and may influence training adaptations (i.e., muscle protein synthesis and recovery).

The Homogeneous Azorean Machado-Joseph Disease Cohort: Characterization and Contributions to Advances in Research.

Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant ataxia worldwide. MJD is characterized by late-onset progressive cerebellar ataxia associated with variable clinical findings, including pyramidal signs and a dystonic-rigid extrapyramidal syndrome. In the Portuguese archipelago of the Azores, the worldwide population cluster for this disorder (prevalence of 39 in 100,000 inhabitants), a cohort of MJD mutation carriers belonging to extensively studied pedigrees has been followed since the late 1990s. Studies of the homogeneous Azorean MJD cohort have been contributing crucial information to the natural history of this disease as well as allowing the identification of novel molecular biomarkers. Moreover, as interventional studies for this globally rare and yet untreatable disease are emerging, this cohort should be even more important for the recruitment of trial participants. In this paper, we profile the Azorean cohort of MJD carriers, constituted at baseline by 20 pre-ataxic carriers and 52 patients, which currently integrates the European spinocerebellar ataxia type 3/Machado-Joseph disease Initiative (ESMI), a large European longitudinal MJD cohort. Moreover, we summarize the main studies based on this cohort and highlight the contributions made to advances in MJD research. Knowledge of the profile of the Azorean MJD cohort is not only important in the context of emergent interventional trials but is also pertinent for the implementation of adequate interventional measures, constituting relevant information for Lay Associations and providing data to guide healthcare decision makers.

Agreement between mechanical and digital skinfold callipers.

Background: Skinfold callipers are often used in clinical practice to estimate subcutaneous adipose tissue thickness. Recently, LipoTool emerged as a potential digital system to measure skinfolds, however comparisons with competing equipment are lacking. Aim: The aim of this study was to test the agreement between two competing skinfold callipers (digital and mechanical). Methods: The sample included 22 healthy male adult participants. A certified observer measured eight skinfolds twice using different skinfold callipers (digital and mechanical). Differences between equipment were tested using Wilcoxon signed rank test The distribution of error was examined using the normality test Results: Differences between skinfold callipers were significantly in five skinfolds: triceps (Z = -3.546; P < 0.001), subscapular (Z = -3.984; P < 0.001), suprailiac (Z = 3.024; P = 0.002), supraspinale (Z = 3.885; P < 0.001), abdominal (Z z = -2.937; P = 0.003), thigh (Z = -2.224; P = 0.026) and calf (Z = -2.052; P = 0.040). Differences between callipers were constant. Conclusions: Mechanical and digital callipers tended to record different values of skinfold thickness. Clinical examination should consider equipment-related variation in fat mass estimation.

Surgical Resection Combined with Adjuvant Radiotherapy and Non-Steroidal Anti-Inflammatory Drugs in the Treatment of Heterotopic Ossification Following Total Hip Arthroplasty.

Heterotopic ossification (HO) is a well-known complication following total hip arthroplasty (THA), with an average incidence of 30%. Patients are classified according to Brooker's staging system. In advanced stages (III and IV), HO may limit hip motion and cause intolerable pain. For these symptomatic stages, surgical excision is mandatory, usually combined with prophylaxis of recurrence with non-steroidal anti-inflammatory drugs (NSAIDs) and/or radiotherapy. We present the case of a 70-year-old woman who developed Stage IV HO after undergoing THA for left hip osteoarthritis. Surgical excision of the HO was performed eighteen months after THA, with adjuvant radiotherapy and indomethacin. After two years of follow-up, the patient had a good hip function with no recurrence of HO. Several authors have studied the effect of NSAIDs and radiotherapy in HO prophylaxis and in HO treatment but there is lack of reports concerning the combination of the two strategies with surgery in the postoperative period. We therefore report this successful case of post-THA HO treatment with surgical excision and post-operative radiotherapy and NSAIDs.

A ossificação heterotópica (OH) é uma complicação frequente após artroplastia total da anca (ATA), com uma incidência média de 30%. Os doentes são classificados de acordo com o sistema de estadiamento de Brooker. Nos estádios avançados (Brooker III e IV), a OH pode restringir a mobilidade da anca e causar dores insuportáveis. Nestes estádios sintomáticos, o tratamento indicado consiste na excisão cirúrgica combinada com profilaxia da recorrência com anti-inflamatórios não esteróides (AINEs) e/ou radioterapia. Apresentamos o caso de uma mulher de 70 anos que desenvolveu OH grau IV após ATA por osteoartrose da anca esquerda. Realizou-se excisão da OH um ano e meio após a ATA, com radioterapia e indometacina adjuvantes. Após dois anos de seguimento, não se verifica recorrência da OH e apresenta uma boa função da anca. O efeito dos AINEs e radioterapia adjuvante na profilaxia e no tratamento da HO está bem estabelecido, mas não há muitos relatos das duas estratégias combinadas com cirurgia no pós-operatório. Descrevemos, portanto, um caso de tratamento de OH pós-ATA com excisão das ossificações e radioterapia e AINEs no pós-operatório.

Effect of guided imagery relaxation on anxiety in cervical cancer: randomized clinical trial / Efecto de la relajación con imagen guiada en la ansiedad en el cáncer cervical: ensayo clínico aleatorizado / Efeito do relaxamento com imagem guiada na ansiedade no câncer cervical: ensaio clínico randomizado

ABSTRACT Objectives: to evaluate the effect of guided imagery relaxation through virtual reality on anxiety in women with cervical cancer undergoing radiochemotherapy. Methods: randomized, non-blinded, single-center clinical trial conducted at a cancer reference hospital. 52 women participated, with randomized allocation of 24 in the control group and 28 in the experimental group (12 sessions of guided imagery relaxation through virtual reality, applied three times a week). The outcome was evaluated using the State-Trait Anxiety Inventory and statistical analysis was performed using the Generalized Linear Mixed Model. Results: n the experimental group, women presented significant anxiety traits (p=0.010) before the intervention. Between the 4th and 12th week of follow-up, there was a reduction in anxiety levels, without statistical significance. Conclusions: guided imagery relaxation through virtual reality provided evidence of anxiety reduction in women with cervical cancer undergoing radiochemotherapy and may contribute to clinical practice. Brazilian Clinical Trial Registry: RBR-7ssvytb.

RESUMEN Objetivos: evaluar el efecto de la relajación con imagen guiada por realidad virtual en la ansiedad en mujeres con cáncer cervical sometidas a radioterapia. Métodos: ensayo clínico aleatorizado, no enmascarado, unicéntrico, realizado en un hospital de referencia en cáncer. Participaron 52 mujeres con asignación aleatoria, 24 en el grupo control y 28 en el experimental (12 sesiones de relajación por imagen guiada por realidad virtual, aplicadas 3 veces por semana). El resultado fue evaluado por el Inventario de Ansiedad Rasgo-Estado y el análisis estadístico fue realizado con el Generalized Linear Mixed Model. Resultados: en el grupo experimental, las mujeres presentaban rasgos de ansiedad significativos (p=0,010) antes de la intervención. Entre la 4ª y 12ª semana de seguimiento, hubo reducción en el estado de ansiedad, sin significancia estadística. Conclusiones: la técnica de relajación por imagen guiada por realidad virtual proporcionó evidencias de reducción de la ansiedad en mujeres con cáncer cervical en tratamiento con radioterapia y puede contribuir en la práctica clínica. Registro Brasileño de Ensayo Clínico: RBR-7ssvytb.

RESUMO Objetivos: avaliar o efeito do relaxamento com imagem guiada por realidade virtual na ansiedade em mulheres com câncer cervical submetidas à radioquimioterapia. Métodos: ensaio clínico randomizado, não mascarado, unicêntrico, realizado em um hospital de referência em câncer. Participaram 52 mulheres com alocação randomizada, 24 no grupo controle e 28 no experimental (12 sessões de relaxamento por imagem guiada por realidade virtual, aplicadas 3 vezes por semana). O desfecho foi avaliado pelo Inventário de Ansiedade Traço-Estado e a análise estatística foi realizada com o Generalized Linear Mixed Model. Resultados: no grupo experimental, as mulheres apresentavam traços de ansiedade significativos (p=0,010) antes da intervenção. Entre a 4ª e 12ª semana de seguimento, houve redução no estado de ansiedade, sem significância estatística. Conclusões: a técnica de relaxamento por imagem guiada por realidade virtual forneceu evidências de redução da ansiedade em mulheres com câncer cervical em tratamento com radioquimioterapia e pode contribuir na prática clínica. Registro Brasileiro de Ensaio Clínico: RBR-7ssvytb.

A 6-month trial of memantine for nystagmus and associated phenomena in oculopalatal tremor.

Introduction: Oculopalatal tremor (OPT) is a late manifestation of a Guillain-Mollaret triangle lesion. Memantine has been shown to improve nystagmus in OPT, but its long-term efficacy and putative distinct effects on each plane of nystagmus and on associated phenomena (e.g., gravity perception) are largely unknown. Methods: We conducted a 6-month open-label study to evaluate the effect of memantine in OPT patients. Baseline (visit 1), 2 (visit 2), and 6 months (visit 3) assessments included video-oculography, best corrected visual acuity (BCVA), visual function questionnaire (VFQ25), palatal tremor frequency, and subjective visual vertical (SVV). Memantine was titrated to 20 mg per day and stopped after 6 months. Results: We included six patients (5 females; mean age 68.5+/-9.7). At visit 2, nystagmus improved >50% only along the horizontal plane in two patients, while worsening >50% along the vertical and horizontal planes in 4 and 1 patients, respectively. At visit 3, previous improvement of nystagmus along the horizontal plane in two patients was not sustained, and it further worsened >50% along the vertical plane in 4. The mean vertical velocity and amplitude of nystagmus in the left eye significantly worsened from visit 2 to visit 3 (p = 0.028). Throughout the study, nystagmus frequency remained unchanged (p = 0.074), BCVA improved in both eyes (p = 0.047, p = 0.017), SVV progression was unpredictable (p = 0.513), and the mean VFQ-25 score (p = 0.223) and mean palatal frequency remained unchanged. Conclusion: The long-term use of memantine 20 mg per day in OPT produced a modest and only transient improvement in nystagmus, predominantly along the horizontal plane. Visual acuity improved, albeit without relevant changes in vision-related quality of life.

Role of incubitus truncal ataxia, and equivalent standing grade 3 ataxia in the diagnosis of central acute vestibular syndrome.

INTRODUCTION AND OBJECTIVES: acute vestibular syndrome is a diagnostic challenge, requiring a rapid and precise diagnosis to take therapeutic actions. Truncal ataxia, inability to sit still, and Babinski flexor dysergy were evaluated. Material anf methods: 52 patients with central pathology (stroke in aica and pica territory) and vestibular neuritis were prospectively studied. MRI of the brain was used as the gold standard. RESULTS: A combination of grade 2-3 ataxia to differentiate patients with vestibular neuritis from patients with stroke resulted in a 92% sensitivity (95% CI 79-100%), a 67% specificity (95% CI 47-86%). Flexion asynergy had a 70% sensitivity (95% CI 47-92%), and an 88% specificity (95% CI 69-100%). The inability to sit still correlated well with truncal ataxia. CONCLUSIONS: vestibulospinal signs are useful in the differential diagnosis of acute vestibular syndromes, and the inability to sit is a good substitute for truncal ataxia when it cannot be evaluated.

Temperature thresholds and screening of febrile people by non-contact measurement of the face using infrared thermography - A methodology proposal.

Recent outbreaks of infectious diseases such as Covid-19 that have fever as one of the symptoms drive the search for systems to track people with fever quickly and non-contact, also known as sanitary barriers. The use of non-contact infrared-based instruments, especially the infrared thermal imager, has widely spread. However, the screening process has presented low performance. This article addresses the choice of regions of interest on the human face for the analysis of the individual's fever, deals with the temperature thresholds used for this analysis, as well as the way to issue the recommendation to screen the person or not. The data collection and statistical analysis of temperatures of 198 volunteers allowed us to study and define the most appropriate face regions as targets for these barriers, as well as the temperature thresholds to be used for screening for each of these regions. Besides, the paper presents a probabilistic method based on the metrological quality of the sanitary barrier to the emission of recommendation for screening potentially febrile people. The developed method was tested in feverish and non-febrile volunteers, showing complete assertiveness in the tested cases.