Frequent Signs Research Articles

Osteoarthritis of the coxofemoral joint in 24 horses: Evaluation of radiography, ultrasonography, intra-articular anaesthesia, treatment and outcome.

Few case reports describe equine coxofemoral joint osteoarthritis (CFJOA). To evaluate diagnostic findings and outcome of horses with CFJOA and to provide a score facilitating radiographic assessment. Retrospective case series. History, clinical signs, ultrasonographic, radiographic and intra-articular anaesthesia findings, treatments, outcome, and necropsy results of horses with CFJOA presented between 2002 and 2023 were collated. Radiographic findings were categorised to develop a radiographic score which was applied by two masked examiners. Intra- and inter-observer reliability was determined using weighted Cohen's kappa (Cκ) and the correlation between radiographic and ultrasound findings via Spearman correlation coefficient. The study included 24 horses (median age 14 years). Most of them (20/24) were chronically lame. Frequent clinical signs included unilateral gluteal muscle atrophy (18/21), lengthening of the stride of the affected limb (13/19) and locomotion on three tracks (13/20). Both imaging modalities enabled evaluation of periarticular osteophytes (correlation coefficient r = 0.64; p = 0.003). Additionally, radiography allowed detection of irregular joint spaces, subchondral bone opacity changes and femoral head flattening/tapering. Inter-observer (Cκ = 0.846) and intra-observer (Cκ = 0.853 and Cκ = 0.842) agreement was excellent. If treated, mostly intra-articular corticosteroids were administered (16/18). Nine horses were euthanised immediately or during follow-up examination. Post-mortem, the Ligamentum capitis ossis femoris was commonly found ruptured. All surviving horses remained lame. Retrospective analysis of clinical records and subjective outcome assessment based on owner follow-up with potential recall bias. Due to overall disease severity, associations between different grades of clinical findings, radiographic abnormalities and outcome could not be evaluated. Typical clinical signs may indicate CFJOA. Standardised evaluation of ventrodorsal radiographs allows a comprehensive diagnosis. Postmortem findings suggest joint instability as a possible causative factor that may contribute to the poor prognosis and resistance to medical therapy of the disorder.

Radioterapia no tratamento de neoplasias sinonasais em cães

ABSTRACT: Sinonasal neoplasms represent approximately 1% of all neoplasms and represent a major challenge for treatment. The treatment of nasal tumors must be local, and radiotherapy can be a good option in these cases. This study evaluated the therapeutic response of canine sinonasal neoplasms to megavoltage radiotherapy, and consequently, its influence on the survival and quality of life of these animals. We included 26 dogs with sinonasal neoplasms through histopathological and cytological examination. Dogs were treated with radiotherapy at total doses of 42-54 Gy (for carcinomas) and 45 Gy (for sarcomas) in 15-18 fractions of 2.8-3.0 Gy. Tumor staging was performed based on skull tomography. The most frequent clinical signs of sinonasal neoplasms were sneezing, nasal noise, and epistaxis. Acute side effects were mild and more frequent. Survival was evaluated based on tumor stage, obtaining a mean overall survival of 329 days (95% confidence interval, 229-428) and a median of 252.5 days. The survival time in animals in stage T3/T4 was significantly shorter than that in those in stage T1/T2 (P < 0.05). Moreover, 86.4% of the treated animals showed clinical improvement. Radiotherapy was well tolerated by dogs and effective in controlling sinonasal neoplasms.

Senescent Astrocytes Derived from Human Pluripotent Stem Cells Reveal Age-Related Changes and Implications for Neurodegeneration.

Astrocytes play a crucial role in maintaining brain homeostasis by regulating synaptic activity, providing metabolic support to neurons, and modulating immune responses in the central nervous system (CNS). During aging, astrocytes undergo senescence with various changes that affect their function and frequently lead to neurodegeneration. This study presents the first evidence of senescent astrocytes derived from human pluripotent stem cells (hPSCs). These senescent hPSC-derived astrocytes exhibited altered cellular and nuclear morphologies, along with increased expression of senescence-associated markers. Additionally, nuclear localization of NFκB, telomere shortening, and frequent signs of DNA damage were observed in these cells. Furthermore, senescent astrocytes showed defects in various critical functions necessary for maintaining a healthy CNS environment, including a reduced ability to support neuronal survival and clear neurotransmitters, synaptic debris, and toxic protein aggregates. Altered structural dynamics and reduced mitochondrial function were also observed in senescent astrocytes. Notably, treating hPSC-derived senescent astrocytes with chemicals targeting reactive oxygen species or an enzyme that regulates mitochondrial function can reverse senescence phenotypes. Thus, this study offers a valuable cellular model that can be utilized to investigate the mechanisms of brain aging and may present new avenues for discovering innovative therapeutic approaches for neurodegenerative diseases.

Epidemiological and clinical features of malignant hyperthermia: A scoping review.

Malignant hyperthermia (MH) is a potentially fatal inherited pharmacogenetic disorder related to pathogenic variants in the RYR1, CACNA1S, or STAC3 genes. Early recognition of the occurrence of MH and prompt medical treatment are indispensable to ensure a positive outcome. The purpose of this study was to provide valuable information for the early identification of MH by summarizing epidemiological and clinical features of MH. This scoping review followed the methodological framework recommended by Arksey and O'Malley. PubMed, Embase, and Web of science databases were searched for studies that evaluated the epidemical and clinical characteristics of MH. A total of 37 studies were included in this review, of which 26 were related to epidemiology and 24 were associated with clinical characteristics. The morbidity of MH varied from 0.18 per 100 000 to 3.9 per 100 000. The mortality was within the range of 0%-18.2%. Identified risk factors included sex, age, disorders associated with MH, and others. The most frequent initial clinical signs included hyperthermia, sinus tachycardia, and hypercarbia. The occurrence of certain signs, such as hypercapnia, delayed first temperature measurement, and peak temperature were associated with poor outcomes. The epidemiological and clinical features of MH varied considerably and some risk factors and typical clinical signs were identified. The main limitation of this review is that the treatment and management strategies were not assessed sufficiently due to limited information.

Ocular Toxocariasis in Adult Caucasian Patients: Clinical Presentations and Treatment Outcomes

ABSTRACT Purpose To report the clinical features and treatment outcomes in adult Caucasians with ocular toxocariasis (OT) and investigate their prognosis depending on their serological status. Methods Retrospective observational cohort study (2016–2021) including consecutive adults with uveitis and positive western blot (WB) in the aqueous humor or vitreous. The presence of serum antibodies was not necessary for inclusion, allowing to compare the outcomes depending on the serological status. Results Seventeen eyes of 15 patients were included. Mean age at diagnosis was 51.9 years. Vitreous inflammation was the most frequent sign (100%). Vitreoretinal tractions (41.2%) and chorioretinal granulomas (58.8%) were less prevalent. Atypical features were: spontaneous intravitreal hemorrhage (23.5%), exudative retinal detachment (11.8%), isolated macular edema (17.6%), papillitis (29.4%) and vasculitis (47.1%). Twenty percent of patients had a positive serum serology. Baseline clinical features did not differ statistically depending on the serological status; however, the degree of inflammation was numerically higher in patients with negative serology. Overall, macular thickness, anterior and posterior segment inflammation improved significantly after treatment with oral albendazole, systemic ± local corticosteroids. Vitrectomy (47.1%) was performed in case of persistent vitritis (62.5%), retinal detachment (12.5%) and intravitreous hemorrhage (25%). Conclusion OT has no pathognomonic sign and atypical presentations were not infrequent in this adult Caucasian cohort. Serum antibodies were rarely positive, stressing on the importance of ocular sample analysis, especially in case of atypical features. Serum antibodies may prove useful in forecasting the rapidity of inflammation clearance. Antiparasitic and anti-inflammatory treatment was safe and efficient in most cases.

Association between Food-Specific Immunoglobulin G4 Antibodies in Adults with Self-Reported Signs and Symptoms Attributed to Adverse Reactions to Foodstuffs.

Signs and symptoms attributed to adverse reactions to foodstuffs (ARFS) need tools for research and evaluation in clinical practice. The objectives of this study were (a) to evaluate the most frequent self-reported signs and symptoms attributed to ARFS in Spanish adults, (b) to determine the prevalence of food-specific IgG4 antibody reactions (AbRs), and (c) to investigate the association between self-reported ARFS symptomatology and food-specific IgG4 AbRs. Food-specific IgG4 AbRs against 57 common food and beverages (AESKUCARE-T2FA® in vitro point-of-care test kit, Aesku.Diagnostics GmbH, Germany) were determined in capillary blood samples of 205 volunteers living in the Region of Madrid (Spain). The most frequent self-reported signs and symptoms were related to skin (43%), digestive (41%), and nervous system (NS, 33%) problems. The prevalence of food-specific IgG4 AbRs was cow's milk (73%), sheep's milk (70%), casein (66%), and goat's milk (56.10%). Positive IgG4 AbRs against tomato had a profile consisting of 3/4 of skin problems, more than half of digestive, and 2/5 of NS self-reported signs and symptoms. In conclusion, at least 1/3 of the studied sample reported skin, digestive, and NS signs and symptoms. The most frequent food-specific IgG4 AbRs were related to dairy. Skin problems were more frequent in positive tomato IgG4 AbRs.

The Spontaneous Incidence of Neurological Clinical Signs in Preclinical Species Using Cage-side Observations or High-definition Video Monitoring: A Retrospective Analysis.

When conducting toxicology studies, the interpretation of drug-related neurological clinical signs such as convulsions, myoclonus/myoclonic jerks, tremors, ataxia, and salivation requires an understanding of the spontaneous incidence of those observations in commonly used laboratory animal species. The spontaneous incidence of central nervous system clinical signs in control animals from a single facility using cage-side observations or high definition video monitoring was retrospectively analyzed. Spontaneous convulsions were observed at low incidence in Beagle dogs and Sprague-Dawley rats but were not identified in cynomolgus monkeys and Göttingen minipigs. Spontaneous myoclonic jerks and muscle twitches were observed at low incidence in Beagle dogs, cynomolgus monkeys, and Sprague-Dawley rats but were not seen in Göttingen minipigs. Spontaneous ataxia/incoordination was identified in all species and generally with a higher incidence when using video monitoring. Salivation and tremors were the two most frequent spontaneous clinical signs and both were observed in all species. Data from the current study unveil potential limitations when using control data obtained from a single study for toxicology interpretation related to low incidence neurological clinical signs while providing historical control data from Beagle dogs, cynomolgus monkeys, Sprague-Dawley rats, and Göttingen minipigs.

De l’« êta négligé » au « pi tiré vers le bas » : problèmes d’identification et de dénomination des signes musicaux d’après le P. Mich. inv. 1205

Abstract P.Mich. inv. 1205 is a small papyrus fragment containing the remains of an instrumental music score. Relying on a paleographic and musical analysis to reinterpret the reading of the most frequent sign, the article substantially modifies the melodic structure, and raises the question of the link between the establishment of intrumental semiography and its nomenclature, leading to a better understanding of tables of musical signs in the treatises copied during the medieval period.

ЧАСТЫЕ КЛИНИЧЕСКИЕ ПРИЗНАКИ ЗАБОЛЕВАНИЙ НОСА И ОКОЛОНОСОВЫХ ПАЗУХ У БОЛЬНЫХ ХРОНИЧЕСКОЙ ПОЧЕЧНОЙ НЕДОСТАТОЧНОСТЬЮ

Abstract. Introduction. Adequate advanced hemodialysis techniques reduce nosebleeds in patients with chronic renal failure. The most common otorhinolaryngological manifestations were nasal mucosa dryness, lower nasal concha pallor, and, to a lesser extent, crusts on both the nasal septum and the lower nasal concha. Aim of the study was to assess the frequency of various initial manifestations in hemodialysis patients with chronic renal failure. Materials and Methods. A crossover study was conducted in 2020-2022. It included 68 patients with chronic renal failure, receiving regular hemodialysis for 6 months and longer. Results and Discussion. Nasal mucosae were normal in 45.6% of patients, dry in 44.1%, and hyperemic in 10.3%. Inferior nasal conchae were pallor in 44.1% of patients, normal in 35.3%, and hypertrophic in 13.2%. Crusts were found in inferior nasal conchae in 7.4% of patients and in nasal septum in 14.7% of patients. Frequency of nosebleeds was lower in regularly hemodialyzed patients with chronic renal failure. Conclusions. Analysis of the studies conducted shows that the frequency of nosebleeds was reduced in regularly hemodialyzed patients with chronic renal failure. Ulceration and perforation of the nasal septum are the least frequent otorhinolaryngological signs. No cases of olfactory neuropathy were reported in our study.

Clinics and Para clinics aspects of micronutrients deficient in elderly at General Reference Hospital of Niamey (Niger)

Introduction: Micronutrients are made up of vitamins, minerals and trace elements, their deficits in geriatrics patients are responsible for non-specific clinical signs leading to diseases or functional disabilities. The purpose was to describe the clinical and biology aspects of patients with micronutrient deficiency in the internal medicine and geriatrics department of the Niamey General Reference Hospital. Patient and methods: This was a longitudinal type cross-sectional study involving 88 patients during 15 months from June 30, 2021 to September 31, 2022. Results: A total of 88 patients, the average age was 78 years old [65 – 100 years old]. Common micronutrient deficiencies were: vitamin D (22.73%), hyponatremia (45%) and hypocalcemia (23%). The frequent clinical signs were of the musculoskeletal system in 63.6%, digestive system (45.4%). The denutrition rate was 36.3%, 61.3% loss of ability , 15.9% probable depression and 63.6% risk of falling. 37.5% had anemia including 30.6% microcytic and 35.2% hypochromic. There was a moderate alteration of renal function in 43.1% of cases. Conclusion: micronutrient deficiencies are characterized by a frequent Musculo skeletal signs, anemia and kidney disorders with non-specific etiology in context of limited micronutrient evidence in laboratory. So, this group of population should be sensibilize about appropriate nutrition to prevent those deficient.

Factors Associated With Stroke Mortality in an Urban-Rural Environment: The Case of the MONKOLE Hospital Centre

Background: Stroke is a fatal disease, and knowledge of the factors associated with this mortality in different environments is necessary in order to take appropriate action. This article presents data from a hospital located in an urban-rural setting in Kinshasa: The Monkole hospital centre. Methods: This is a cross-sectional study conducted at Monkole hospital Centre from 01/01/2020 to 31/01/2023 in all patients with a confirmed diagnosis of stroke admitted to intensive care, emergency or internal medicine. Sociodemographic, clinical, paraclinical, therapeutic and outcome data were collected from hospital registers and patient records. Student's t, Anova, Chi-squared or Fischer's exact tests and logistic regression were performed with SPSS 25.0 with p less than 5%. Ethical principles were respected. Results: Of 3,629 patients admitted during the study period, 148 (4%) were admitted for stroke. The mean age was 62.6 years and the predominant sex was male. 51.4% of patients were admitted from home, with the following comorbidities: arterial hypertension, diabetes mellitus and embolism-induced heart disease. Frequent reasons for consultation were: disturbed consciousness, increased blood pressure and convulsions. Frequent physical signs were: disturbed consciousness, increased blood pressure, neurological deficit and pupillary abnormalities. The average time to hospital was 13.6 ± 8.2 hours. The accident was ischaemic in 70.3% and haemorrhagic in 29.7%. Treatment was medical in 100% of cases, with no thrombolysis. Mortality was 11.5% and 36.5% of survivors had moderate to severe functional disability. Advanced age (OR 2.34, 95% CI 1.36-4.04), hypertension (OR 2.19, 95% CI 1.24-3.88) and low socio-economic status (OR 1.81, 95% CI 1.02-3.21) were associated with mortality. Conclusion: Mortality in this series was 11.5%, associated with advanced age, hypertension and low socioeconomic status. Controlling blood pressure and improving living conditions could reduce this mortality

An Acute Gvhd Classification Based on the Dynamic of Gvhd Skin Involvement from Its Appearance to Start of Systemic Treatment

The currently used classifications of acute GVHD are based on signs and symptoms in the skin, gut and liver, graded at the start of first-line therapy. However, they do not consider the rate at which these symptoms developed. Since skin aGVHD is the most frequent initial sign, we conducted a prospective observational study aimed at investigating the prognostic value of the dynamic of skin involvement such as the rate at which aGVHD progresses from cutaneous involvement to visceral involvement. One hundred and eight consecutive patients who underwent allogeneic hematopoietic transplantation in our centre were registered for this observational study, their aGVHD episodes were classified according to both the modified Glucksberg classification and according to a “GHVD skin dynamic” proposed by us. Our classification “GVHD skin dynamic” classified acute GVHD based on the time interval between rash initial appearance to time when treatment using corticosteroids (CS) was started. In patients left untreated, we considered the change in skin rash extension shown during the first week without treatment. Median age of treated patients was 49 years, 69% were affected by Acute Leukemia, 64% had an alternative donor type (MUD, HAPLO). Primary aGVHD treatment was started in all patients in the case of progression to Glucksberg Overall Grade 2 or a persisting Overall Grade 1, no local corticosteroids were used on the skin. Eighty-two presented a skin rash as a first sign of a-GVHD (80.3%) and were classified according both to Glucksberg classification and our scheme; 18/82 started CS within 48 hours (Group 1); 13/82 started CS within days 3-7 (Group 2). Fifty-one patients (62.2%) were left untreated for 7 days (Group 3) and subclassified 3a and 3b. Group 3a (n 31) was defined when Skin GVHD Overall Grade 1, left untreated for 1 week, showed an absolute increase in involved body surface area <5 %. Group 3b (n 20), was defined when Skin GVHD Overall Grade 1, left untreated at 1 week, had an absolute increase in involved body surface area >5% (Fig 1). Demographic, disease-related and transplant features (Age, Donor type, Disease status, HSC Source, ATG use, Conditioning RIC, Diagnosis) in the four groups were not significantly different. The four groups, identified by “GVHD skin dynamic”, had distinctive 2-y OS, (Fig 2). In Group 1 (patients who were started on CS within 48 h) the OS at 2y was 50.1% and TRM 41.6%. In Group 2 (patients who started on CS after 2 days and within 7 days) the OS at 2 y was 64.8% and TRM 16.8%. In Group 3a (patients who were started on CS after 7 days and had no increase of skin rash during days 1-7) the OS was 75.1% and TRM 10.4%. In Group 3b (patients who were started on CS after 7 days and had an increase of skin rash during days 1-7) the OS was 39.8% and TRM 39.2%. Patients were then grouped based on “GVHD skin dynamic” into “Dynamic type poor risk” (Group 1 and Group 3b) and “Dynamic type good risk” (Group 2 and Group 3a). Such grouping was found statistically important using Cox proportional hazard univariate analysis for OS (p=0.04). Such grouping “Dynamic type poor risk” and “Dynamic type good risk” retained importance for OS when evaluated in Cox proportional hazard multivariate analysis (HR 2.222 ; 95% CL 1.017-4.875; p=0.04) together with age, status of the disease and conditioning. Patients who were left untreated because of skin-only acute GVHD and who during a week had a worsening skin extension (Group 3b) were compared to those who when left untreated for one week showed a stable skin-only involvement (Group 3a). Overall Survival at 2 y in Group 3b was significantly inferior compared to Group 3a: 39.8% vs 75.1% (log-rank: p= 0.03). Group 3b had also increased Treatment-Related Mortality: 39.2% versus 10.4% vs (Gray test: p=0.05) and increased rate in need of secondary anti-GVHD treatment: 76.4% vs 46.6% (chi-test p=0.002). The dynamic of skin aGVHD during the first week from appearance may be used to classify acute GVHD and this proposed acute GVHD classification has good prognostic value. Further, patients who have a skin-only acute GVHD and who, when left untreated for one week show an increase in skin involvement, have inferior prognosis and should start systemic CS promptly.

Sign Language Dataset for Automatic Motion Generation.

Several sign language datasets are available in the literature. Most of them are designed for sign language recognition and translation. This paper presents a new sign language dataset for automatic motion generation. This dataset includes phonemes for each sign (specified in HamNoSys, a transcription system developed at the University of Hamburg, Hamburg, Germany) and the corresponding motion information. The motion information includes sign videos and the sequence of extracted landmarks associated with relevant points of the skeleton (including face, arms, hands, and fingers). The dataset includes signs from three different subjects in three different positions, performing 754 signs including the entire alphabet, numbers from 0 to 100, numbers for hour specification, months, and weekdays, and the most frequent signs used in Spanish Sign Language (LSE). In total, there are 6786 videos and their corresponding phonemes (HamNoSys annotations). From each video, a sequence of landmarks was extracted using MediaPipe. The dataset allows training an automatic system for motion generation from sign language phonemes. This paper also presents preliminary results in motion generation from sign phonemes obtaining a Dynamic Time Warping distance per frame of 0.37.

Fish Symbolism in Indus Valley Epigraphy and Protohistoric Accounts

The contribution of the Indus Valley civilization to the historic cultures of South Asia is a matter of debate due to a discontinuity in material culture, from the time of its decline to the reappearance of urbanization several centuries later. Progress in the epigraphy of the Indus Valley has been hindered by the absence of a bilingual inscription and the brevity of its texts. One of the most frequent signs encountered in its undeciphered writing system is the pictogram of ‘fish’. On a few seal inscriptions, this sign appears alone, suggesting that it represented a meaningful word or a name. It is noteworthy that Indian literature of later centuries recounts a protohistoric kingdom named Matsya in the vicinity of the Indus Valley sites, as matsya is the Sanskrit word for ‘fish’ and a divinity in the form of a fish is celebrated in the Indian version of the flood myth. An analysis of these narratives is presented in this paper, revealing the possibility of an association with the Indus Valley civilization of the more distant past. These observations indicate that fish symbolism may have occupied a place of prominence in Indus culture from political and religious perspectives. The Matsya territory mentioned in Vedic and epic literature is discussed in light of the chalcolithic cultures of Rajasthan, and it is suggested that this region witnessed successive waves of migration of different cultural groups due to its economic importance related to the exploitation of copper reserves.

Evaluating the documentation of vital signs following implementation of a new comprehensive newborn monitoring chart in 19 hospitals in Kenya: A time series analysis.

Multi-professional teams care for sick newborns, but nurses are the primary caregivers, making nursing care documentation essential for delivering high-quality care, fostering teamwork, and improving patient outcomes. We report on an evaluation of vital signs documentation following implementation of the comprehensive newborn monitoring chart using interrupted time series analysis and a review of filled charts. We collected post-admission vital signs (Temperature (T), Pulse (P), Respiratory Rate (R) and Oxygen Saturation (S)) documentation frequencies of 43,719 newborns with a length of stay > 48 hours from 19 public hospitals in Kenya between September 2019 and October 2021. The primary outcome was an ordinal categorical variable (no monitoring, monitoring 1 to 3 times, 4 to 7 times and 8 or more times) based on the number of complete sets of TPRS. Descriptive analyses explored documentation of at least one T, P, R and S. The percentage of patients in the no-monitoring category decreased from 68.5% to 43.5% in the post-intervention period for TPRS monitoring. The intervention increased the odds of being in a higher TPRS monitoring category by 4.8 times (p<0.001) and increased the odds of higher monitoring frequency for each vital sign, with S recording the highest odds. Sicker babies were likely to have vital signs documented in a higher monitoring category and being in the NEST360 program increased the odds of frequent vital signs documentation. However, by the end of the intervention period, nearly half of the newborns did not have a single full set of TPRS documented and there was heterogenous hospital performance. A review of 84 charts showed variable documentation, with only one chart being completed as designed. Vital signs documentation fell below standards despite increased documentation odds. More sustained interventions are required to realise the benefits of the chart and hospital-specific performance data may help customise interventions.

Phenotypic effect of GBA1 variants in individuals with and without Parkinson's disease: The RAPSODI study

BackgroundVariants in the GBA1 gene cause the lysosomal storage disorder Gaucher disease (GD). They are also risk factors for Parkinson's disease (PD), and modify the expression of the PD phenotype.The penetrance of GBA1 variants in PD is incomplete, and the ability to determine who among GBA1 variant carriers are at higher risk of developing PD, would represent an advantage for prognostic and trial design purposes. ObjectivesTo compare the motor and non-motor phenotype of GBA1 carriers and non-carriers. MethodsWe present the cross-sectional results of the baseline assessment from the RAPSODI study, an online assessment tool for PD patients and GBA1 variant carriers. The assessment includes clinically validated questionnaires, a tap-test, the University of Pennsyllvania Smell Identification Test and cognitive tests. Additional, homogeneous data from the PREDICT-PD cohort were included. ResultsA total of 379 participants completed all parts of the RAPSODI assessment (89 GBA1-negative controls, 169 GBA1-negative PD, 47 GBA1-positive PD, 47 non-affected GBA1 carriers, 27 GD). Eighty-six participants were recruited through PREDICT-PD (43 non-affected GBA1 carriers and 43 GBA1-negative controls). GBA1-positive PD patients showed worse performance in visual cognitive tasks and olfaction compared to GBA1-negative PD patients. No differences were detected between non-affected GBA1 carriers carriers and GBA1-negative controls. No phenotypic differences were observed between any of the non-PD groups. ConclusionsOur results support previous evidence that GBA1-positive PD has a specific phenotype with more severe non-motor symptoms. However, we did not reproduce previous findings of more frequent prodromal PD signs in non-affected GBA1 carriers.

OTHER-02 BRAIN TUMORS: CLINICAL PRESENTATION AT THE NATIONAL CENTER FOR NEUROLOGICAL SCIENCES IN KHARTOUM 2019-2022

Abstract Brain tumors are intracranial neoplastic proliferation of cells. They are implicated in high patient morbidity and mortality. Malignant brain tumors are less common in relevance to other types of malignancies, yet they are enumerated as the tenth leading cause of death worldwide. Diagnosis of these tumors mainly depends on clinical features and imaging. This study aims to describe the clinical presentation and associated factors of brain tumors and has been conducted as a retrospective cross-sectional 4-year facility-based study at the National Center for Neurological Sciences (NCNS), a center in Khartoum state that receives all neurological patients from all over Sudan. Data were collected from records of patients of all ages who have been diagnosed with brain tumors from 2019 to 2022. The data included demographic information, clinical presentation, and the anatomical site of tumors. Data analysis was done using SPSS version 22 and ethical approval was obtained from the institutional review board. The total number of patients with brain tumors was 182. Female to male ratio was 1.3:1 and most of the patients were adults in 131. Headache was found to be the most frequent symptom and motor deficit was the most frequent sign. The commonest anatomical site was supratentorial. Brain tumors despite being more common in adults, share the same most frequent clinical presentation, and with the anatomical site came in consistence with the worldwide population, apart from the gender distribution as females are more affected than males.

Study of Organophosphorus Poisoning at a Tertiary Care Teaching Hospital

Introduction: Organophosphate (OP) insecticides inhibit both cholinesterase and pseudo-cholinesterase activities. The inhibition of acetylcholinesterase causes accumulation of acetylcholine at synapses, and overstimulation of neurotransmission occurs as a result of this accumulation. The mortality rate of OP poisoning is high. Early diagnosis and appropriate treatment is often life saving. Treatment of OP poisoning consists of intravenous atropine and oximes. The clinical course of OP poisoning may be quite severe and may need intensive care management. Methods: A retrospective study was performed on the patients with OP poisoning. Fifty patients were included. Diagnosis was performed from the history taken either from the patient or from the patient's relatives about the agent involved in the exposure. Diagnosis could was confirmed with serum and red blood cell anticholinesterase levels. Intravenous atropine and pralidoxime was administered as soon as possible. Other measures for the treatment were gastric lavage and administration of activated charcoal via nasogastric tube, and cleansing the patient's body with soap and water. The patients were intubated and mechanically ventilated if the patients had respiratory failure, a depressed level of consciousness, which causes an inability to protect the airway, and hemodynamic instability. Mechanical ventilation was performed as synchronized intermittent mandatory ventilation + pressure support mode, either as volume or pressure control. Positive end expiratory pressure was titrated to keep SaO2 above 94% with 40% FIO2. Weaning was performed using either T-tube trials or pressure support weaning. The chi-square test was used for statistical analysis. Data are presented as mean ± standard deviation. Results: There were 26 female and 24 male patients. Thirty-five were suicide attempts and 15 were accidental exposure. The gastrointestinal route was the main route in 44 patients. The most frequent signs were meiosis, change in mental status, hypersalivation and fasciculations. Ten patients (20.0%) required mechanical ventilation. Complications were observed in 35 patients. These complications were respiratory failure (14 patients), aspiration pneumonia (10 patients), urinary system infection (6 patients), convulsion (4 patients) and septic shock (1 patient). The duration of the intensive care stay was 5.2 ± 3.0 days. Discussion: Ingestion of OP compounds for suicidal purposes is a major problem, especially in developing countries. Thirty-five of our patients used the OP insecticide for suicide. The average respiratory rate of these patients increased from 22 to 38 breaths/min, which is an important sign of respiratory distress. The nurse to patient ratio was increased after these events. Early recognition of respiratory failure resulting in intubation and mechanical ventilation is a life-saving intervention for patients with OP poisoning. Respiratory failure is the most troublesome complication, which was observed in 35 patients. Patients with OP poisoning may have respiratory failure for many reasons, including aspiration of the gastric content, excessive secretions, pneumonia and septicemia complicating acute respiratory distress syndrome. Conclusions: OP insecticide poisoning is a serious condition that needs rapid diagnosis and treatment. Since respiratory failure is the major reason for mortality, careful monitoring, appropriate management and early recognition of this complication may decrease the mortality rate among these patients.

Prevalence of the Minimally Conscious State Among Institutionalized Patients in the Netherlands: A Nationwide Study.

The minimally conscious state (MCS) is a prolonged disorder of consciousness (pDoC) and one of the most severe outcomes of acquired brain injury. Prevalence data are scarce. The aim of this study was to establish the nationwide point prevalence of institutionalized patients in MCS in the Netherlands. This was a descriptive cross-sectional study in which all 86 Dutch hospitals, all 5 specialized pDoC rehabilitation facilities, and all 274 nursing homes were asked whether they were treating patients with a pDoC on the point prevalence date of September 15, 2021. Each patient's legal representative provided informed consent for their inclusion. Patient level of consciousness was verified using the Coma Recovery Scale-Revised (CRS-R) in a single assessment session performed in the facility of residence by an experienced physician. Data on patient demographics, etiology, level of consciousness, facility of residence, and clinical status were collected from a questionnaire by the treating physician. The prevalence of institutionalized patients in MCS of per 100,000 members of the Dutch population was calculated, based on actual census data. Seventy patients were reported to have a pDoC, of whom 6 were excluded. The level of consciousness was verified for 49 patients while for 15, it could not be verified. Of the patients verified, 38 had a pDoC, of whom 32 were in MCS (mean age 44.8 years, 68.8% male). The prevalence of institutionalized patients in MCS is 0.2-0.3 per 100,000 Dutch inhabitants. Traumatic brain injury was present in 21 of 32 patients (65.6%). Specialized pDoC rehabilitation was received by 17 of 32 patients (53%), with the rest admitted to nursing homes. The most frequent signs of consciousness on the CRS-R were visual pursuit, reproducible movement to command, and automatic motor response. This nationwide study revealed a low prevalence of institutionalized patients in MCS in the Netherlands. These findings are now being used to organize pDoC care in this country.

Twelve-Lead ECG, Holter Monitoring Parameters, and Genetic Testing in Brugada Syndrome: Insights from Analysis of Multigenerational Family with a History of Sudden Cardiac Arrest during Physical Activity.

Brugada syndrome (BrS) is an arrhythmogenic disorder increasing the risk of syncopal episodes and sudden cardiac death. BrS usually runs through families with reduced penetrance and variable expression. We analyzed the multigenerational family of a patient who died after sudden cardiac arrest with post-mortem diagnosis of BrS. We analyzed clinical history, comprehensive arrhythmic risk, genetic findings, and additional tests, including electrocardiogram (ECG), detailed 24-hour Holter ECG results, and standard echocardiography findings, and followed up the patients in the ambulatory clinic. We analyzed a pedigree of 33 members of four generations of the family (19 male and 14 female patients). In this family, we identified 7 patients with BrS (median Modified Shanghai Score and Sieira model: 4.5 (4-6) and 1 (0-4) points, respectively), including both parents of the deceased patient, and 8 relatives with negative sodium channel blocker drug challenge test. Genetic testing revealed a novel mutation in sodium voltage-gated channel alpha subunit 5 (SCN5A) c.941A>G, (p.Tyr314Cys) inherited from the father of the proband. Patients with BrS were characterized by longer P-wave duration (120 (102-155) vs. 92.5 (88-110) ms, p = 0.013) and longer PR intervals (211.3 ±26.3 vs. 161.6 ± 18.9 ms, p = 0.001), along with more frequent positive aVR sign, but did not differ in terms of QRS duration or T-wave characteristics in resting ECGs. BrS patients were characterized by lower mean, minimal, and maximal (for all p ≤ 0.01) heart rates obtained from Holter ECG monitoring, while there was no difference in arrhythmias among investigated patients. Moreover, visual diurnal variability of ST segment changes and fragmented QRS complexes were observed in patients with BrS in Holter ECG monitoring. There were no major arrhythmic events during median follow-up of 68.7 months of alive BrS patients. These results suggest ECG features which may be associated with a diagnosis of BrS and indicate a novel SCN5A variant in BrS patients. Twelve-lead Holter ECG monitoring, with modified precordial leads placement, may be useful in BrS diagnostics and risk stratification in personalized medicine.