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Loeys-Dietz syndrome (LDS) is a very rare connective tissue disorder with autosomal dominant inheritance, characterized by the involvement of the cardiovascular, musculoskeletal, and cutaneous systems, along with dysmorphic facial features. Currently, there are limited data regarding this disease. This case presents a clinical observation of a 17-year-old boy with acute onset of sensorimotor paraparesis and genetically confirmed LDS. The predominant symptoms of LDS include arterial aneurysms, arterial tortuosity, hypertelorism, and bifid uvula. However, this constellation of symptoms is not found in all patients with the disease. Genetic confirmation is essential for an accurate diagnosis. The prognosis for LDS differs from its mimics, such as Marfan syndrome, Beals syndrome, Ehlers-Danlos syndrome, and Shprintzen-Goldberg syndrome. Management of the disease warrants a multidisciplinary approach to address its various manifestations. Such an approach can help increase the life expectancy and improve the quality of life for these patients.
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Objective: This study aimed to introduce and evaluate the feasibility and outcomes of a novel surgical technique, robot-assisted Foley tie ureteric tapering (RAFUT) and reimplantation, specifically designed for intravesical ureteral tapering during pediatric robotic-assisted ureteric reimplantation. Materials and Methods: A retrospective analysis was conducted on pediatric patients diagnosed with primary vesicoureteric reflux (VUR), who underwent RAFUT between January 2019 and July 2021. Patient records were reviewed to assess preoperative characteristics, operative details, and postoperative outcomes. RAFUT involved meticulous patient positioning, precise port placement with a 6 mm separation, and bladder anchoring to maintain pneumovesicum. Ureteric tapering was performed with the Foley tie technique to enhance surgical precision. The primary outcome measures included operative time, complications, and postoperative VUR resolution. Results: All four patients underwent successful intravesical RAFUT without any intraoperative or postoperative complications. The age of the patients ranged from 3 to 12 years, with varying bladder capacities (range: 210-550 mL). The operating times ranged from 180 to 210 min, and the estimated blood loss was 35-50 mL. None of the patients required conversion to open surgery. Patients demonstrated resolution of VUR on postoperative imaging, and none experienced recurrent urinary tract infections during follow-up, which ranged from 1.5 to nearly 4 years. Conclusion: RAFUT represents a safe and effective surgical technique for intravesical ureteral tapering during pediatric robotic-assisted ureteric reimplantation. This innovative approach addresses the challenges posed by intravesical surgery for dilated ureters, maintains anatomical orientation, and offers precise excision and suturing capabilities.
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Background: Post-stroke pain is common after a stroke and might be underreported. We describe Persistent Facial Pain (PFP) developed in post-stroke patients. Method: ology: This was a prospective hospital-based cohort study of stroke patients, and patients were followed up. Out of 415 stroke patients, 26 developed PFP. Result: Out of all PFP patients, six patients had an ischemic stroke, and 20 had a hemorrhagic stroke. 57.7% of patients had hypertension, while 34.6 patients had diabetes. The stroke location was left-sided in 12 patients and right-sided in 14 patients. 46.15% of patients responded to venlafaxine, 30.77% responded to amitriptyline, and 23.08% responded to pregabalin. Conclusion: Persistent facial pain is a pain syndrome that might be missed in patients post-stroke. It might be more common in hemorrhagic stroke patients than in ischemic stroke patients. It responds adequately to antidepressants. A high index of suspicion is required to diagnose and appropriately manage these patients.
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BACKGROUND: Aphasia is a language disorder acquired secondary to brain damage. This study aims to evaluate clinical and radiological profile of patients with post stroke aphasia and factors affecting its recovery. METHODS: We conducted a prospective study of patients with first left Middle or Anterior Cerebral Artery infarct or Intracerebral Hemorrhage (ICH) with aphasia admitted within 14 days of stroke onset. Aphasia Quotient (AQ) was assessed at 2 weeks (AQ1) and 3 months (AQ2) using Western Aphasia Battery-Hindi version. Magnetic Resonance Imaging of brain with Diffusion Tensor Imaging (DTI) of bilateral Arcuate Fasciculus (AF) and Corticospinal Tract was done at admission, and stroke volume, Laterality Indices of Fractional Anisotropy (LI-FA), Mean Diffusivity (LI-MD), Radial Diffusivity (LI-RD), Axial Diffusivity (LI-AD) and Apparent Diffusion Coefficient (LI-ADC) were obtained. RESULTS: 36 patients [8 ICH and 28 Acute Ischemic Stroke (AIS)] were included. AQ1 and AQ2 were significantly higher in subcortical stroke than cortical. AQ2 and increase in AQ scores (including its subscores) were significantly higher in ICH than AIS. National Institutes of Health Stroke Scale score at admission and volume of stroke had significant negative correlation with AQ1 and AQ2. Laterality Index of Fractional Anisotropy of Arcuate Fasciculus [LI-FA (AF)] had significant positive correlation with AQ2 and naming score at 3 months. Laterality Index of Mean Diffusivity of Arcuate Fasciculus [LI-MD (AF)] had significant negative correlation with AQ1, AQ2 and all subcomponents of AQ2. Significant positive correlation was seen between improvements in Modified Rankin Scale score and AQ. CONCLUSION: The study shows that DTI can be used to predict severity of aphasia at follow up and recovery in language and motor functions occur in parallel.
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Afasia , Imagem de Tensor de Difusão , Acidente Vascular Cerebral , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Afasia/etiologia , Afasia/diagnóstico por imagem , Estudos Prospectivos , Índia , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/diagnóstico por imagem , Idoso , Seguimentos , Adulto , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Recuperação de Função Fisiológica/fisiologiaRESUMO
This study employed a comprehensive approach to validate the hepatoprotective potential of phytoconstituents from Cichorium intybus leaves. In vitro, in vivo and in silico techniques were used to confirm the protective effects on liver enzymes. In vitro antioxidant assessment revealed the highest potential in the hydroethanolic leaf extract compared to aqueous and methanolic extracts. The study further investigated the ameliorative efficacy of the hydro-ethanolic extract (HECL) in male Wistar rats exposed to lead (50 mg/kg b wt.) and nickel (4.0 mg/kg b wt.) individually and in combination for 90 days. HECL at 250 mg/kg b wt. mitigated hepatic injury, oxidative stress, DNA fragmentation, ultrastructural and histopathological alterations induced by lead and nickel. Molecular docking explored the interaction of 28 phytoconstituents from C. intybus with hepatoprotective protein targets. Cyanidin and rutin exhibited the highest affinity for liver corrective enzymes among the screened phytoconstituents. These findings underscore the liver corrective potential of C. intybus leaf phytoconstituents, shedding light on their molecular interactions with hepatoprotective targets. This research contributes valuable insights into the therapeutic applications of C. intybus in liver protection.
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Cichorium intybus , Masculino , Ratos , Animais , Simulação de Acoplamento Molecular , Extratos Vegetais/química , Níquel , Ratos Wistar , Antioxidantes/química , FígadoRESUMO
Osteoblastoma, an uncommon bone neoplasm characterized by the formation of osteoid tissue, constitutes a rare subset of bone tumors, representing only a negligible percentage of cases. While extensive research on the condition has identified a predilection for long bones and vertebrae, occurrences in facial bones are infrequent. This case report discusses a unique presentation in a nine-year-old female diagnosed with a tumor located in the mandibular parasymphysis region. Radiological examination revealed distinctive irregular contours surrounding the lesion, prompting a comprehensive investigation involving biopsy and subsequent histological analysis. The ensuing evaluation definitively confirmed the diagnosis of a typical benign osteoblastoma. This report highlights the novelty of an unresected benign osteoblastoma situated in the mandible, currently undergoing periodic review, with the option of surgery also on the table.
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The present study was carried out on 96 animals representing three distinct colour variants of Badri cattle to investigate the genetic diversity, population structure and substitution mutations in the genetic codons due to single nucleotide variations. The DNA samples of 96 Badri cows were genotyped using a double digestion restriction associated DNA (ddRAD) sequencing approach. A standardized bioinformatics pipeline was employed to identify single nucleotide polymorphisms (SNPs), initially detecting 7,168,552 SNPs through alignment with the Bos indicus reference genome assembly. Subsequent stringent quality filtration yielded 65,483 high-confidence SNPs for downstream analysis. Genetic diversity analysis of the Badri cattle population resulted in average values of 0.145, 0.088, and 0.091 for Shannon's diversity Index (I), Simpson's Diversity (h), and Simpson's Unbiased Diversity (uh), respectively. Genetic similarities between the black and brown, black and grey, and brown and grey Badri variants were found to be 0.9972, 0.9980 and 0.9970, respectively. Tajima's D diversity value was observed to be significant and positive for 99.29% of high-confidence SNPs (65,483). STRUCTURE analysis showed admixture among the three Badri colour variants, suggesting a lack of genetic differentiation. Annotation of high-confidence SNPs regarding genetic codon changes indicated maximum substitutions in the GGC with GGT (22 occurrences), followed by AAC to AGC (20 occurrences), GAA to TAA (19 occurrences) and CAA to CAG (19 occurrences). The study concludes there are genetic similarities among colour variants, lack of rare alleles, balancing selection, sudden population contraction and genetic codon substitutions within the Badri cattle population. Insights derived from SNP data analysis hold potential significance for conservation initiatives and breed improvement programs for indicine cattle.
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Drug metabolism plays a crucial role in drug fate, including therapeutic inactivation or activation, as well as the formation of toxic compounds. This underscores the importance of understanding drug metabolism in drug discovery and development. Considering the substantial costs associated with traditional drug development methods, computational approaches have emerged as valuable tools for predicting the metabolic fate of drug candidates. With this in mind, the present study aimed to investigate the potential mechanisms underlying the modulation of microsomal cytochrome P450 3A1 (CYP3A1) enzyme activity by various phytochemicals found in Cichorium intybus L., commonly known as chicory. To achieve this goal, several in silico methods, including molecular docking and molecular dynamics (MD) simulation, were employed to explore computationally the microsomal CYP3A1 enzyme. Schrodinger software was utilized for the molecular docking study, which involved the interaction analysis between CYP3A1 and 28 phytoconstituents of Cichorium intybus. Virtual screening of 28 compounds from chicory led to the identification of the top five ranked compounds. These compounds were evaluated for drug-likeness properties, pharmacokinetic profiles, and predicted binding affinities to CYP3A1. Caffeoylshikimic acid and cichoric acid emerged as promising candidates due to their favorable characteristics, including good oral bioavailability and high binding affinities to CYP3A1. Molecular dynamics simulations were conducted to assess the stability of caffeoylshikimic acid within the CYP3A1 binding pocket. The results demonstrated that caffeoylshikimic acid maintained stable interactions with the enzyme throughout the simulation, suggesting its potential as an effective modulator of CYP3A1 activity. The findings of this study have the potential to provide valuable insights into the complex molecular mechanisms by which Cichorium intybus L. acts on hepatocytes and modulates CYP3A1 enzyme expression or activity. By elucidating the impact of these phytochemicals on drug metabolism, this research contributes to our understanding of how chicory may interact with drugs and influence their efficacy and safety profiles.
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Cichorium intybus , Simulação de Acoplamento Molecular , Sistema Enzimático do Citocromo P-450/metabolismo , Microssomos/metabolismo , Compostos FitoquímicosRESUMO
Amol PatelBackground Peg-GCSF has similar efficacy at a dose of 60 µg/kg and 100 µg/kg. The conventional 6 mg SC dose was based on the maximum tolerable dose. In Japan, 3.6 mg dose was approved on the basis of dose finding studies. Peg-GCSF is an integral part of dose-dense chemotherapy protocols. Dose finding and scheduling study of peg-GCSF have not been conducted in Indian patients. Materials and Methods We conducted two-center phase 1/2 clinical study addressing the timing and efficacy of peg-GCSF in Indian breast cancer patients (CTRI no: 2021/07/034751). Three groups of timing administration were studied, namely 1, 6, and 24 hours post chemotherapy. The phase 2 part was the expansion of the best timing group. The primary objective was dose density, which was defined as receiving chemotherapy on < 3 days of scheduled date. Adriamycin/epirubicin cyclophosphamide (AC/EC) was administered q2 weeks. The total leucocyte (TLC) and absolute neutrophil (ANC) kinetics were studied. Other outcomes were incidence of grade 4 neutropenia, febrile neutropenia (FN), and requirement of additional doses of G-CSF. Bone pain, fever, and myalgia were studied for adverse effects. Results From November 20 to December 21, 36 patients were enrolled. Patient characteristics are depicted in Table 1. Initially, three patients received the peg-GCSF in each timing group. One patient in each 1-hour and 6 hours needed G-CSF support for maintaining the dose density. The 24-hour group was carried to phase 2 part. Dose density was maintained in 97% of patients. None of the patient in 24-hour group had FN. Also, 4/30 patients had grade 4 neutropenia and required an additional dose of GCSF. Grade 3 or 4 bone pain was not noticed by any of the patients. During the first cycle, the mean ANC (cells/µL) was 5284, 20704, 3010, 6954 on D0, D + 3, D + 7, and D + 13, respectively (Fig. 1A-TLC and 1B-ANC). The mean ANC (cells/µL) rise on D + 3 in cycles 1, 2, 3, 4 was 23810, 29209, 32428,22455, respectively. Conclusion Dose density of AC/EC breast cancer protocol is maintained with peg-GCSF 3 mg. Post chemotherapy 24-hour timing of peg-GCSF administration remains as the standard. A phase 3 trial of 6 mg versus 3 mg is warranted.
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Objectives: Benign paroxysmal positional vertigo (BPPV) is a condition in which a patient gets severe vertigo on moving his head from one position to another. This study aims at comparing the traditional maneuver-Epley repositioning maneuver (ERM) and the newly emerged maneuver-Gans Repositioning maneuver (GRM). Design: A randomized controlled trial. Settings: Tertiary care teaching University Hospital. Participants: Posterior canal BPPV. Intervention: Two hundred and thirty-four patients with BPPV (PC-BPPV) of the posterior canal, diagnosed using the Dix-hallpike test (DH test), were recruited for the study as per random allocation. Two groups were divided by the random allocation method. One group was treated with the Epley maneuver and the other with Gans maneuver by two separate physiotherapists. Main Outcome Measures: DH test negativity (absence of vertigo and nystagmus), Vertigo Analogue Scale (VAS), and Dizziness Handicap Inventory (DHI). Twenty-four hours post-treatment assessments and data analysis were conducted by another (third) therapist. A one month follow-up subjective assessment was performed. Results: Results of one-variable Chi-square tests revealed significant improvement (P < .0001) in maximum (95%) patients of both groups whether subjects were given GRM or ERM. Also, objective improvement (DH test) was found in the Epley group (n = 118, 82.20%) and the Gans group (n = 116, 78.44%). Patients in both groups improved significantly with no dizziness on the VVAS scale (n = 118, 82.20%) in the Epley group and (n = 116, 78.44%) in the Gans group. Conclusion: GRM is as easy, effective, and safe maneuver as the ERM with the absence of recurrence for the treatment of posterior canal BPPV. Trial Registration: Clinical Trials Registry (CTRI/2019/10/021681).
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INTRODUCTION: Migraine is a common headache syndrome associated with various other comorbidities. Thyroid replacement in migraine patients with hypothyroidism improves headaches; however, thyroid hormone replacement in subclinical hypothyroidism is debatable, and its efficacy is not known. OBJECTIVE AND METHODOLOGY: This prospective, single-centre, quasi-randomised interventional study was conducted on patients visiting the General Medicine and Neurology outpatient department at a tertiary centre to look at the efficacy of thyroxine in subclinical hypothyroidism. RESULTS: We assessed 87 patients for analysis; no patients were lost to follow-up. There was a decrease in all parameters evaluated (headache frequency, severity, duration, MIDAS score, MIDAS grade) at three months of follow-up in the treatment group compared to placebo group. There was a significant decrease in headache frequency and severity in the levothyroxine group compared to the placebo group at three months of follow-up. Also, the follow-up MIDAS score (mean ± SD: 6.30 ± 2.455 scores vs. 8.45 ± 5.757 scores) was significantly decreased by treatment at three months follow-up. CONCLUSION: Treatment of subclinical hypothyroidism effectively reduces migraine headaches, and it is logical to check thyroid function status in patients presenting with migraine headaches. However, a larger randomised controlled trial is required to prove the efficacy of levothyroxine in migraine with subclinical hypothyroidism.
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Hipotireoidismo , Transtornos de Enxaqueca , Humanos , Tiroxina/uso terapêutico , Estudos Prospectivos , Hipotireoidismo/complicações , Hipotireoidismo/tratamento farmacológico , Transtornos de Enxaqueca/complicações , Transtornos de Enxaqueca/tratamento farmacológico , Transtornos de Enxaqueca/induzido quimicamente , Cefaleia/tratamento farmacológicoRESUMO
Paroxysmal kinesigenic dyskinesia (PKD) is characterized by recurrent attacks of abnormal involuntary movements that are triggered by sudden movement, intention to move, or acceleration. A 10-year-old boy presented with paroxysmal, involuntary twisting movements of the left upper and lower limbs, precipitated by sudden body movements, lasting for 10-15 seconds and subsiding spontaneously. On examination, choreiform movements were observed, which were precipitated by sudden movements during some activities. The patient responded to carbamazepine with complete subsidence of the movements. The diagnosis of PKD was further confirmed by genetic testing. A high suspicion index helps in the prompt and early diagnosis of this rare entity.
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OBJECTIVE: This study aimed to determine the effectiveness of pregabalin for the control of symptoms in mild to moderate idiopathic Carpal tunnel syndrome (CTS). METHODS: In this randomized, placebo-controlled trial, 146 mild to moderate idiopathic CTS patients were randomized into pregabalin (n=74) and placebo groups (n=72). Per protocol, analysis was conducted with 131 patients; pregabalin (n=65) and placebo (n=66). The drug titration dose was 50 mg once daily for the first week, twice daily for the second week and thrice daily for the next 6 weeks. The primary outcome included a change in the Symptom Severity Scale and Functional Status Scale (FSS) of the Boston Carpal Tunnel Questionnaire after the eighth week. The secondary outcome was the change in clinical and electrophysiological grading after 8 weeks of therapy. RESULTS: There was a statistically significant improvement in the mean Symptom Severity Scale (14.92±3.72 vs. 16.55±4.45; P =0.025) and FSS (10.77±2.64 vs. 12.0±2.55; P =0.007) in the pregabalin group after 8 weeks. Mean clinical and electrophysiological grading changed significantly from 2.3±0.7 to 2.1±0.8 ( P =0.001) and 1.9±0.7 to 1.8±0.8 ( P =0.020), respectively in the pregabalin group but not in the placebo group. DISCUSSION: The results of this study demonstrates that pregabalin is effective in ameliorating symptoms and improving functional outcomes in mild to moderate idiopathic CTS.
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Síndrome do Túnel Carpal , Humanos , Síndrome do Túnel Carpal/tratamento farmacológico , Síndrome do Túnel Carpal/diagnóstico , Pregabalina/uso terapêutico , Estudos Prospectivos , Projetos de Pesquisa , Resultado do TratamentoRESUMO
Epidemiological surveillance involves systematic gathering, analysis, interpretation, and sharing of health data, with the goal of preventing and controlling diseases [...].
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Aplastic anemia is usually associated with hemorrhagic stroke. Here, we report a case of ischemic stroke secondary to aplastic anemia in a 28-year-old male who presented with sudden-onset right hemiplegia and aphasia when he was not on any immunosuppression for five months. His laboratory findings showed pancytopenia, and his peripheral blood smear showed no atypical cells. Magnetic resonance imaging of the brain with magnetic resonance angiography (MRA) of the neck and brain vessels revealed an infarct in the left cerebral hemisphere in the middle cerebral artery territory, and no significant stenosis or aneurysm was observed on MRA. The patient was managed conservatively and discharged in stable condition.
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The role of environmental contaminants and their association with stroke is still being determined. Association has been shown with air pollution, noise, and water pollution; however, the results are inconsistent across studies. A systematic review and meta-analysis of the effect of persistent organic pollutants (POP) in ischemic stroke patients were conducted; a comprehensive literature search was carried out until 30th June 2021 from different databases. The quality of all the articles which met our inclusion criteria was assessed using Newcastle-Ottawa scaling; five eligible studies were included in our systematic review. The most studied POP in ischemic stroke was polychlorinated biphenyls (PCBs), and they have shown a trend for association with ischemic stroke. The study also revealed that living near a source of POPs contamination constitutes a risk of exposure and an increased risk of ischemic stroke. Although our study provides a strong positive association of POPs with ischemic stroke, more extensive studies must be conducted to prove the association.
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Poluentes Ambientais , AVC Isquêmico , Bifenilos Policlorados , Acidente Vascular Cerebral , Humanos , Poluentes Orgânicos Persistentes , AVC Isquêmico/epidemiologia , Bifenilos Policlorados/toxicidade , Acidente Vascular Cerebral/epidemiologia , Poluentes Ambientais/toxicidade , Poluentes Ambientais/análiseRESUMO
Thromboembolic complications after the COVID-19 vaccination have been reported from all over the world. We aimed to identify the thrombotic and thromboembolic complications that can arise after receiving various types of COVID-19 vaccines, their frequency, and distinguishing characteristics. Articles published in Medline/PubMed, Scopus, EMBASE, Google Scholar, EBSCO, Web of Science, the Cochrane Library, the CDC database, the WHO database, ClinicalTrials.gov, and servers like medRxiv.org and bioRxiv.org, as well as the websites of several reporting authorities between December 1, 2019, and July 29, 2021, were searched. Studies were included if they reported any thromboembolic complications post-COVID-19 vaccination and excluded editorials, systematic reviews, meta-analyses, narrative reviews, and commentaries. Two reviewers independently extracted the data and conducted the quality assessment. Thromboembolic events and associated hemorrhagic complications after various types of COVID-19 vaccines, their frequency, and distinguishing characteristics were assessed. The protocol was registered at PROSPERO (ID-CRD42021257862). There were 59 articles, enrolling 202 patients. We also studied data from two nationwide registries and surveillance. The mean age of presentation was 47 ± 15.5 (mean ± SD) years, and 71.1% of the reported cases were females. The majority of events were with the AstraZeneca vaccine and with the first dose. Of these, 74.8% were venous thromboembolic events, 12.7% were arterial thromboembolic events, and the rest were hemorrhagic complications. The most common reported event was cerebral venous sinus thrombosis (65.8%), followed by pulmonary embolism, splanchnic vein thrombosis, deep vein thrombosis, and ischemic and hemorrhagic stroke. The majority had thrombocytopenia, high D-dimer, and anti-PF4 antibodies. The case fatality rate was 26.5%. In our study, 26/59 of the papers were of fair quality. The data from two nationwide registries and surveillance revealed 6347 venous and arterial thromboembolic events post-COVID-19 vaccinations. COVID-19 vaccinations have been linked to thrombotic and thromboembolic complications. However, the benefits far outweigh the risks. Clinicians should be aware of these complications because they may be fatal and because prompt identification and treatment can prevent fatalities.
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Platelet-monocyte (PMA) and platelet-neutrophil aggregations (PNA) play critical roles in the evolution of acute ischemic stroke (AIS). The present study investigates the mechanistic basis of platelet responsiveness in cryptogenic stroke compared with cardioembolic stroke. Platelet from 16 subjects, each from cryptogenic and cardioembolic stroke groups and 18 age-matched healthy controls were subjected to different investigations. Compared to healthy controls, platelet-monocyte and platelet-neutrophil interactions were significantly elevated in cryptogenic (2.7 and 2.1 times) and cardioembolic stroke (3.9 and 2.4 times). P-selectin expression on platelet surface was 1.89 and 2.59 times higher in cryptogenic and cardioembolic strokes, respectively, compared to healthy control. Cell population with [Ca2+i] in either stroke group was significantly outnumbered (by 83% and 72%, respectively, in cryptogenic and cardioembolic stroke) in comparison to healthy controls. Noteworthy, TEG experiment revealed that the cryptogenic stroke exhibited significant decline in Reaction Time (R) and amplitude of 20 mm (K) (by 32% and 33%, respectively) while thrombin burst (α-angle) was augmented by 12%, which reflected substantial boost in thrombus formation in cryptogenic stroke. Although TEG analysis reveals a state of hypercoagulability in patients with cryptogenic stroke. However, platelets from both stroke subtypes switch to a 'hyperactive' phenotype.