Control Volunteers Research Articles

Ventricular arrhythmias recorded on 12-lead ambulatory electrocardiogram monitoring in healthy volunteer athletes and controls: what is common and what is not.

Premature ventricular beats (PVBs) in athletes are often benign, but sometimes they may be a sign of an underlying disease. We evaluated the prevalence, burden, and morphology of PVBs in healthy voluntary athletes and controls with the main purpose of defining if certain PVB patterns are 'common' and 'training related' and, as such, are more likely benign. We studied 433 healthy competitive athletes [median age 27 (18-43) years, 74% males] and 261 age- and sex-matched sedentary subjects who volunteered to undergo 12-lead 24 h ambulatory electrocardiogram (ECG) monitoring (24H ECG), with a training session in athletes. Ventricular arrhythmias (VAs) were evaluated in terms of their number, complexity [i.e. couplet, triplet, or non-sustained ventricular tachycardia (NSVT)], exercise inducibility, and morphology. Eighty-six percent of athletes and controls exhibited a total of ≤10 PVBs/24 h, and >90% did not show any couplets, triplets, or runs of NSVT > 3 beats. An higher number of PVBs correlated with increasing age (P < 0.01) but not with sex and level of training. The most frequent morphologies among the 36 athletes with >50 PVBs were the infundibular (44%) and fascicular (22%) ones. In a comparison between athletes and sedentary individuals, and male and female athletes, no statistically significant differences were found in PVBs morphologies. The prevalence and complexity of VAs at 24H ECG did not differ between athletes and sedentary controls and were not related to the type and amount of sport or sex. Age was the only variable associated with an increased PVB burden. Thus, no PVB pattern in the athlete can be considered 'common' or 'training related'.

The proteome and phosphoproteome of circulating extracellular vesicle-enriched preparations are associated with characteristic clinical features in type 1 diabetes.

There are no validated clinical or laboratory biomarkers to identify and differentiate endotypes of type 1 diabetes (T1D) or the risk of progression to chronic complications. Extracellular vesicles (EVs) have been studied as biomarkers in several different disease states but have not been well studied in T1D. As the initial step towards circulating biomarker identification in T1D, this pilot study aimed to provide an initial characterization of the proteomic and phosphoproteomic landscape of circulating EV-enriched preparations in participants with established T1D (N=10) and healthy normal volunteers (Controls) (N=7) (NCT03379792) carefully matched by age, race/ethnicity, sex, and BMI. EV-enriched preparations were obtained using EVtrap® technology. Proteins were identified and quantified by LC-MS analysis. Differential abundance and coexpression network (WGCNA), and pathway enrichment analyses were implemented. The detected proteins and phosphoproteins were enriched (75%) in exosomal proteins cataloged in the ExoCarta database. A total of 181 proteins and 8 phosphoproteins were differentially abundant in participants with T1D compared to controls, including some well-known EVproteins (i.e., CD63, RAB14, BSG, LAMP2, and EZR). Enrichment analyses of differentially abundant proteins and phosphoproteins of EV-enriched preparations identified associations with neutrophil, platelet, and immune response functions, as well as prion protein aggregation. Downregulated proteins were involved in MHC class II signaling and the regulation of monocyte differentiation. Potential key roles in T1D for C1q, plasminogen, IL6ST, CD40, HLA-DQB1, HLA-DRB1, CD74, NUCB1, and SAP, are highlighted. Remarkably, WGCNA uncovered two protein modules significantly associated with pancreas size, which may be implicated in the pathogenesis of T1D. Similarly, these modules showed significant enrichment for membrane compartments, processes associated with inflammation and the immune response, and regulation of viral processes, among others. This study demonstrates the potential of proteomic and phosphoproteomic signatures of EV-enriched preparations to provide insight into the pathobiology of T1D. The WGCNA analysis could be a powerful tool to discriminate signatures associated with different pathobiological components of the disease.

Assessing the relationship between antipsychotic drug use and prolidase enzyme activity and oxidative stress in schizophrenia patients: a case-control study.

The relationship between proline, its association with oxidative stress, and its connection to schizophrenia is a subject that has not been sufficiently investigated. The aim of this study is to evaluate the possible effects of atypical and combined (typical and atypical) antipsychotic use on serum prolidase enzyme activity (SPEA) and serum oxidative stress parameters, and to assess the relationship between SPEA and oxidative stress in patients with schizophrenia. A total of 57 patients with schizophrenia, of which 34 were using atypical (AAPG) and 23 were using combined (typical and atypical) (CAPG) antipsychotic therapy, and 28 healthy volunteers (control group) were included in this case-control study. SPEA levels of AAPG and CAPG were significantly lower than that of control group ( P = 0.003). The oxidative stress index (OSI) value of AAPG was significantly higher than the other two groups ( P = 0.001). SPEA (<1860 U/l) and OSI (≥0.54) could discriminate schizophrenia patients with antipsychotic therapy from control groups ( P = 0.001 and P = 0.007, respectively). Lower SPEA levels were associated with antipsychotic use ( P = 0.007). The SPEA values of patients with schizophrenia on antipsychotics were significantly lower compared to controls. OSI values were significantly higher in atypical antipsychotic recipients compared to those on combined antipsychotics and healthy controls.

Incidence of Carpal Tunnel Syndrome and Other Coexisting Brachial Plexus Neuropathies in Bullseye Shooters—A Pilot Retrospective Clinical and Neurophysiological Assessment

Shooting may impact the frequency of neuropathies in the upper extremity nerves or of cervical disc–root conflicts. This study was undertaken to assess whether shooting sports trained with a handgun by civilians may influence the risk factor for carpal tunnel syndrome (CTS) and other neuropathies of the brachial plexus nerve fibers. Neurophysiological studies using surface electromyography (rEMG at rest and mcEMG during maximal contraction), electroneurography (ENG), and motor-evoked potential recordings (MEPs) were performed in a select population of nine shooters, which were rigorously screened as positive through a clinical examination for carpal tunnel syndrome and other brachial plexus neuropathies among a population of forty-two subjects, to confirm the existence of pathologies in the upper extremities. Increased muscle tension in rEMG and a simultaneous decrease in motor unit activity in mcEMG were recorded both in the proximal and distal muscles of the upper extremities more frequently in the shooters than in the healthy controls—volunteers. An ENG examination confirmed CTS in the shooting hand of four subjects (4/42; 9.5%), additionally revealing a significantly decreased F-wave at the C6–C7 levels in the dominant extremities of the shooting group in comparison to the control population (p = 0.05). All the examined subjects had revealed brachial plexus pathologies on both sides according to the results of the MEP recordings upon stimulation at the C4–C8 levels (various significant differences between the shooters and control group were found), and two had ulnar neuropathy in the wrist on the shooting side. It was concluded that shooting sports are a moderate risk factor for carpal tunnel syndrome and that they significantly influence the development of other brachial plexus neuropathies.

Brain serotonin 1A receptor binding: relationship to peripheral blood DNA methylation, recent life stress and childhood adversity in unmedicated major depression.

Childhood and lifetime adversity may reduce brain serotonergic (5-HT) neurotransmission by epigenetic mechanisms. We tested the relationships of childhood adversity and recent stress to serotonin 1A (5-HT1A) receptor genotype, DNA methylation of this gene in peripheral blood monocytes and in vivo 5-HT1A receptor binding potential (BPF) determined by positron emission tomography (PET) in 13 a priori brain regions, in participants with major depressive disorder (MDD) and healthy volunteers (controls). Medication-free participants with MDD (n = 192: 110 female, 81 male, 1 other) and controls (n = 88: 48 female, 40 male) were interviewed about childhood adversity and recent stressors and genotyped for rs6295. DNA methylation was assayed at three upstream promoter sites (-1019, -1007, -681) of the 5-HT1A receptor gene. A subgroup (n = 119) had regional brain 5-HT1A receptor BPF quantified by PET. Multi-predictor models were used to test associations between diagnosis, recent stress, childhood adversity, genotype, methylation and BPF. Recent stress correlated positively with blood monocyte methylation at the -681 CpG site, adjusted for diagnosis, and had positive and region-specific correlations with 5-HT1A BPF in participants with MDD, but not in controls. In participants with MDD, but not in controls, methylation at the -1007 CpG site had positive and region-specific correlations with binding potential. Childhood adversity was not associated with methylation or BPF in participants with MDD. These findings support a model in which recent stress increases 5-HT1A receptor binding, via methylation of promoter sites, thus affecting MDD psychopathology.

Analysis of Genome Wide Associated Variants rs2651899 (PRDM16), rs11172113 (LRP1), and rs10166942 (TRPM8) of Migraine in the Indian Episodic Migraineurs

Background: The involvement of genes in migraine pain is identified by several studies. Many genome-wide association studies (GWAS) revealed the presence of particular variants in different migraine populations worldwide. Objective: This study aims in analyzing the presence of 3 GWAS variants (rs2651899 [PRDM16], rs11172113 [LRP1], and rs10166942 Transient Receptor Potential Cation Channel Subfamily M Member 8 [TRPM8]) in the Indian episodic migraineurs. Methodology: Enrolled 200 age- and gender-matched patients and control volunteers; collected blood samples to isolate DNA to check the presence of chosen variants in them. The results obtained were statistically analyzed using SPSS version 26.0. Results: The rs10166942 (TRPM8) variant is observed in 1.5% of control, 15.88% of migraine with aura, and 5.37% of migraine without aura subjects with the highly significant P &lt; 0.0008. The other two variants are absent in the chosen sample group. Conclusion: We reported the presence of rs10166942 in the Indian episodic migraineurs and we recommend pathway analysis for confirming its association with the migraine pain progression.

Association of BARD1 and BRIP1 Gene Polymorphisms with the Risk of Uveal Melanoma.

Considering the limited information about the role of hereditary predisposition to the development of uveal melanoma, we have performed an analysis of the frequencies of BARD1 (rs1048108, rs2229571, rs2070094) and BRIP1 (rs4986764) gene polymorphisms in patients with uveal melanoma and benign choroidal nevus in comparison with healthy volunteers (control). It has been found that the minor alleles of BRIP1 rs4986764 and BARD1 rs2070094 polymorphisms, as well as the homozygosity of T allele at the BARD1 rs1048108 locus are common genetic markers for the predisposition to uveal melanoma and benign choroidal nevus, while the homozygous genotype GG for the BARD1 rs2229571 polymorphism is a specific marker for the predisposition to uveal melanoma and progressive choroidal nevus. We have also found that the heterozygous genotype at BARD1 rs1048108 polymorphic locus is a specific marker for protection against uveal melanoma and progressive choroidal nevus. Thus, our results indicate the advisability of studying polymorphisms of the BARD1 gene (rs1048108, rs2229571, and rs2070094) and the BRIP1 gene (rs4986764) in patients with uveal melanoma and progressive choroidal nevus. The obtained findings can be used for forming risk groups, prevention of uveal melanoma, and differential diagnosis of intraocular neoplasms.

Decreased perifoveal ganglion cell complex thickness - a first sign for macular damage in patients using hydroxychloroquine.

Aim: To examine ganglion cell complex (GCC) thickness detected by optical coherence tomography (OCT) in patients using hydroxychloroquine (HCQ), without any structural and functional macular changes to evaluate the initial symptoms of macular toxicity for early diagnosis before clinical evaluation. Methods: Eighty eyes of forty patients (Group 1) and forty eyes of twenty healthy volunteer persons (Group 2) were included in the study. Detailed ophthalmologic and mydriatic fundus examination were applied to all patients and volunteers (controls). Spectral domain OCT, visual field (VF) and color vision test were performed. Measurements of macula thickness, GCC thickness (involving nerve fiber layer, ganglion cell layer and inner plexiform layer) and peripapillary retinal nerve fiber layer (RNFL) were performed with OCT. Patients with retinal pigment epithelial changes, VF paracentral scotoma and defected color vision were excluded from the planned study. Results: Perifoveal GCC layer thickness in all quadrants was significantly thinner in group 1 compared to group 2 (p=0.017, p=0.001, p=0.019, p=0.001). The mean global inferior hemifield and nasal quadrant RNFL thickness were lower than in the control groups (p=0,012, p=0,009, p=0,005, respectively). Conclusion: Changes in the thickness of nerve fiber layer and ganglion cell layer detected by optical coherence tomography can be thought to be used as a diagnostic aid for the early diagnosis of hydroxychloroquine-toxic maculopathy Abbreviations: GCC = Ganglion cell complex, OCT = Optical coherence tomography, HCQ = Hydroxychloroquine, BCVA = Best-corrected visual acuity, IOP = Intraocular pressure, VF = Visual field, RNFL = Retinal nerve fiber layer, SD OCT = Spectral-domain optical coherence tomography, mfERG = Multifocal electroretinogram, FAF = Fundus autofluorescence, IS/ OS = Inner segment-outer segment junction, SITA = Swedish Interactive Threshold Algorithm, RA = Rheumatoid arthritis, SLE = Systemic lupus erythematosus, SS = Sjogren syndrome.

Isokinetic strength assessment of trunk muscle and its relationship with spinal-pelvic parameters in patients with degenerative spinal deformity.

The incidence rate of degenerative spinal deformity (DSD) has gradually increased in the elderly. Currently, the relationship between the functional status of trunk muscle and the spinal-pelvic parameters of DSD patients remains unclear. This paper aims to explore the relationship between the two factors and provide new clues for exploring the mechanism of the occurrence and development of DSD. A total of 41 DSD patients treated in our hospital (DSD group) and 35 healthy volunteers (control group) were selected. Muscle strength was evaluated using an IsoMed-2000 isokinetic dynamometer, and the trunk flexor and extensor peak torque (PT) of subjects was measured at a low, medium, and high angular velocity of 30∘/s, 60∘/s, and 120∘/s, respectively. Hand grip strength (HGS) was assessed using an electronic grip dynamometer and Surgimap software was used to measure the spinal-pelvic parameters, including the sagittal vertical axis (SVA), thoracic kyphosis (TK), lumbar lordosis (LL), sacral slope (SS), pelvic tilt (PT), pelvic incidence rate (PI), and PI-LL, and the relationship between trunk muscle function and various parameters was analyzed. Under the three angular velocities, the flexor and extensor PT values in the DSD group were lower than those in the control group, and only the extensor PT showed a statistically significant difference (P< 0.05). There was no significant difference in HGS between the two groups (P> 0.05). In the DSD group, the extensor PT at 30∘/s was significantly negatively correlated with SVA (P< 0.05). At 60∘/s and 120∘/s, the extensor PT was significantly negatively correlated with SVA and PT (P< 0.05). Trunk extensor strength is significantly lower in DSD patients than in normal controls. The decline in trunk extensor strength in DSD patients is a type of local muscle dysfunction more closely related to the deformity, which is likely involved in the compensatory mechanism of DSD and may reflect the overall imbalance of the trunk.

Videodermoscopy Evaluation in Non-scarring Alopecia of Scalp

Introduction: Hair is a versatile structure, and its importance has been linked to it in the beautification of human beings for ages. According to studies on the psychological impacts of androgenetic alopecia (AGA) in men, they are older, weaker, and less appealing. Hair loss in women gives significant stress and lowers self-confidence. Aim: To perform videodermoscopic findings in non-scarring alopecia of scalp versus control volunteers. Material and Methods: Total of 140 patients satisfied the study’s inclusion criteria after a general medical examination, scalp examination (including inspection of the hair shaft and root), and hair anchoring and fragility tests. We examined the lesions with a videodermoscopy, took images, and wrote up our findings. Results: The study found that patients averaged 26.85. Onset averaged 25.15 alopecia averaged 10.3 months. Our sample had 87.7% spotty AA. Conclusion: Videodermoscopy is an effective non-invasive tool of considerable potential in dermatological practice. It is becoming popular as a hair loss differential diagnosis tool.

Gut microbiota alterations in children and their relationship with primary immune thrombocytopenia.

Gut microbiota reportedly play a critical role in some autoimmune diseases by maintaining immune homeostasis. Only a few studies have examined the correlation between gut microbiota and the onset of primary immune thrombocytopenia (ITP), especially in children. The purpose of this study was to investigate changes in the composition and diversity of the fecal microbiota of children with ITP, as well as the correlation between such microbiota and the onset of ITP. Twenty-five children newly diagnosed with ITP and 16 healthy volunteers (controls) were selected for the study. Fresh stool samples were collected to identify changes in the composition and diversity of gut microbiota as well as for potential correlation analysis. In ITP patients, the phyla that were most frequently encountered were Firmicutes (54.3%), followed by Actinobacteria (19.79%), Bacteriodetes (16.06%), and Proteobacteria (8.75%). The phyla that were predominantly found in the controls were, Firmicutes (45.84%), Actinobacteria (40.15%), Bacteriodetes (3.42%), and Proteobacteria (10.23%). Compared with those of the controls, the proportions of Firmicutes and Bacteriodetes in the gut microbiota of ITP patients were increased while the proportions of Actinobacteria and Proteobacteria were decreased. Furthermore, gut microbiota in ITP patients varied by age group, showed specific changes in diversity, and were correlated with antiplatelet antibodies. IgG levels were significantly positively correlated with Bacteroides (P<0.01). The gut microbiota of children with ITP are imbalanced, as shown by the increase in Bacteroidetes, which was positively correlated with IgG. Thus gut microbiota may contribute to ITP pathogenesis via IgG. The clinical trial were registered and approved by the Institutional Review Committee of The Affiliated Huaian No.1 People's Hospital of Nanjing Medical University. Ethics number KY-2023-106-01.

Echocardiographic myocardial stiffness for the diagnosis and tissue characterization of cardiac amyloidosis

Abstract Funding Acknowledgements Type of funding sources: Foundation. Main funding source(s): Swiss National Science Foundation Philips Healthcare. Introduction Intrinsic cardiac elastography in echocardiography estimates myocardial stiffness by measuring the propagation of the myocardial stretch generated by atrial contraction. The aims of the present study were (A) to assess its value in differentiating cardiac amyloidosis (CA) from hypertrophic cardiomyopathy (HCM) and healthy volunteers (controls), and B) to correlate it with an established marker of cardiac amyloid burden and fibrosis. Methods This prospective study evaluated myocardial stiffness in 52 participants with CA (n=27), HCM (n=9) and controls (n=16) by ultra-high-frame rate (above 250 frames/sec) ultrasound imaging using diverging beam mode. The slope of the isovelocity wave front was measured as the intrinsic velocity propagation of myocardial stretch (iVP, in m/s). Additionally, participants with CA and HCM underwent comprehensive transthoracic echocardiography including quantification of global longitudinal strain (GLS) by speckle-tracking imaging. The relative apical sparing (RELAPS) ratio was calculated as the average GLS of apical segments / average GLS of midventricular and basal segments. Extracellular volume (ECV) by native and post-contrast T1 mapping from cardiac magnetic resonance (CMR) was quantified in 12 participants with CA and 4 with HCM. Results iVP was significantly higher in CA (i.e., 2.6 m/s [1.7–3.8]) than in HCM (1.2 m/s [1.0–1.8], p = 0.001) and controls (1.4 m/s [1.3–1.5], p = 0.004) but did not differ between HCM and controls (p = 0.928; Panel A). The diagnostic accuracy of iVP to identify CA was 82% and similar to the RELAPS ratio (i.e., 84%). iVP &amp;gt; 2.0 m/s has a sensitivity, specificity, positive predictive value and negative predictive value of 59%, 100%, 100%, and 69% to diagnose CA among the 52 participants. There was a strong correlation of iVP with ECV (rho=0.747, p = 0.001; Panel B). In contrast, iVP correlated weakly to moderately with GLS (rho=0.514, p = 0.001), RELAPS ratio (rho=0.433, p = 0.008), E/e’ (rho=0.413, p = 0.014) and NT-proBNP (rho=0.476, p = 0.006). Conclusions Echocardiographic myocardial stiffness is highly specific to diagnose cardiac amyloidosis and provides unique insights into myocardial tissue composition.

Left ventricular assist devices promote changes in the expression levels of platelet microRNAs.

MicroRNAs (miRs) emerged as promising diagnostic and therapeutic biomarkers in cardiovascular diseases. The potential clinical utility of platelet miRs in the setting of left ventricular assist device (LVAD) support is unexplored. We prospectively measured the expression levels of 12 platelet miRs involved in platelet activation, coagulation, and cardiovascular diseases in LVAD patients by quantitative real-time polymerase chain reaction. Data were longitudinally measured before LVAD implant and after 1, 6, and 12 months of LVAD support, and compared with those measured in healthy volunteers (controls). In silico analysis was also performed to identify pathways targeted by differentially expressed miRs. Data from 15 consecutive patients and 5 controls were analyzed. Pre-implant expression levels of platelet miR-126, miR-374b, miR-223, and miR-320a were significantly different in patients vs. controls. The expression levels of platelet miR-25, miR-144, miR-320, and miR-451a changed significantly over the course of LVAD support; in silico analysis revealed that these miRs are implicated in both cardiac- and coagulation-associated pathways. Furthermore, the patients who suffered from bleeding (n = 5, 33%) had significantly higher pre-implant expression levels of platelet miR-151a and miR-454 with respect to the patients who did not. The same miRs were also differentially expressed in bleeders following LVAD implantation early before the clinical manifestation of the events. This study provides a proof-of-concept evidence of significant modulation of platelet miRs expression driven by LVADs. The possible existence of a platelet miRs signature predictive of the development of bleeding events warrants further validation studies.

Elevated Levels of Serum Biomarkers Associated with Damage to the CNS Neurons and Endothelial Cells Are Linked with Changes in Brain Connectivity in Breast Cancer Patients with Vestibulo-Atactic Syndrome

Vestibulo-atactic syndrome (VAS), which represents a combination of motor and vestibular disorders, can be manifested as a clinical complication of breast cancer treatment and has a significant impact on patients’ quality of life. The identification of novel potential biomarkers that might help to predict the onset of VAS and its progression could improve the management of this group of patients. In the current study, the levels of intercellular cell adhesion molecule 1 (ICAM-1), platelet/endothelial cell adhesion molecule 1 (PECAM-1), NSE (neuron-specific enolase), and the antibodies recognizing NR-2 subunit of NMDA receptor (NR-2-ab) were measured in the blood serum of BC survivor patients with vestibulo-atactic syndrome (VAS) and associated with the brain connectome data obtained via functional magnetic resonance imaging (fMRI) studies. A total of 21 patients were registered in this open, single-center trial and compared to age-matched healthy female volunteers (control group) (n = 17). BC patients with VAS demonstrated higher serum levels of ICAM-1, PECAM-1, and NSE and a lower value of NR-2-ab, with values of 654.7 ± 184.8, 115.3 ± 37.03, 49.9 ± 103.9, and 0.5 ± 0.3 pg/mL, respectively, as compared to the healthy volunteers, with 230.2 ± 44.8, 62.8 ± 15.6, 15.5 ± 6.4, and 1.4 ± 0.7 pg/mL. According to the fMRI data (employing seed-to-voxel and ROI-to-ROI methods), in BC patients with VAS, significant changes were detected in the functional connectivity in the areas involved in the regulation of postural-tonic reflexes, the coordination of movements, and the regulation of balance. In conclusion, the detected elevated levels of serum biomarkers may reveal damage to the CNS neurons and endothelial cells that is, in turn, associated with the change in the brain connectivity in this group of patients.

Application of serum Raman spectroscopy in rapid and early discrimination of aplastic anemia and myelodysplastic syndrome

BackgroundRaman spectroscopy of hematological diseases has gained attention from various researchers. However, serum analysis of bone marrow failure (BMF), represented by aplastic anemia (AA) and myelodysplastic syndromes (MDS) has not been fully investigated. In this study, we aimed at establishing a simple, non-invasive serum detection method for AA and MDS. MethodSerum samples from 35 AA patients (N = 35), MDS patients (N = 25), and control volunteers (N = 23) were systematically analyzed via laser Raman spectroscopy, and orthogonal partial least squares discrimination analysis (OPLS-DA). Then, discrimination models between the BMFs and control were constructed and evaluated using the prediction set. ResultsCompared to control volunteers, serum spectral data for BMF patients were specific. The intensities of Raman peaks representing nucleic acids (726, 781, 786, 1078, 1190, 1415 cm−1), proteins (1221 cm−1), phospholipid/cholesterol (1285 cm−1), and β-carotene (1162 cm−1) significantly decreased, while the intensity of lipids (1437 and 1446 cm−1) significantly increased. Intensities of Raman peaks representing nucleic acids (726 cm−1) and collagen (1344 cm−1) in the AA group were significantly lower than in the control group. Intensities of Raman peaks representing nucleic acids (726 and 786 cm−1), proteins (1003 cm−1), and collagen (1344 cm−1) in the MDS group were significantly lower than those of the control group. The intensity of Raman peaks representing lipids (1437 and 1443 cm−1) in the MDS group was significantly higher than in the control group. Patients with AA and MDS exhibited increased serum triglyceride levels and decreased high-density lipoprotein levels. ConclusionsThe relationship between serological test data for patients and typing of AA and MDS provides essential information for rapid and early identification of BMF. This study shows the potential of Raman spectroscopy for non-invasive detection of different BMF types.

Evaluation of Swallowing Function in Relation to Oropharyngeal Dysphagia in Patients with Operated Unilateral Cleft Lip and Palate.

To determine the occurrence of oropharyngeal dysphagia (OD) signs and symptoms in patients with operated unilateral cleft lip and palate (CLP). This prospective study was conducted on 15 adolescents with operated unilateral CLP (CLP group) and 15 non-cleft volunteers (control group). Initially, the Eating Assessment Tool-10 (EAT-10) questionnaire was administered to subjects. OD signs and symptoms such as coughing, the sensation of choking, globus sensation, the need to clear the throat, nasal regurgitation, difficulties of bolus control multiple swallowing were evaluated by patient complaints and physical examination of swallowing function. Also, the Functional Outcome Swallowing Scale was used to determine the severity of the OD. Fiberoptic endoscopic evaluation of swallowing (FEES) with water, yogurt, and crackers was performed. The prevalence of OD signs and symptoms based on patient complaints and physical examination of swallowing was low (range, 6.7 to 26.7%), and nonsignificant differences were observed between the groups for these parameters as well as for EAT-10 scores. According to the Functional Outcome Swallowing Scale findings, 11 of 15 patients with CLP were asymptomatic. Fiberoptic endoscopic evaluation of swallowing indicated that post-swallow pharyngeal wall residues with yogurt were significant in the CLP group with a prevalence of 53% ( P < 0.05), whereas differences between the groups in terms of cracker and water residues were nonsignificant ( P > 0.05). OD in patients with repaired CLP was manifested mainly in the form of pharyngeal residue. However, it did not appear to cause significant increases in patient complaints compared with healthy individuals.

Expression of microRNAs 30, 451, 130, and 378 and its relationship to type 1 diabetes mellitus in Egyptian children

Background and aimType 1 diabetes mellitus (TIDM) is known for autoimmune destruction of the beta cells, which strongly leads to the lack of insulin production. Increasing evidence suggests that microRNAs (miRNAs) play a role in how T1DM develops, mainly by changing how pancreatic beta-cells work and causing autoreactive agents to build up, which kill beta-cells. Dysregulated microRNA profiles have been identified in children with type 1 diabetes mellitus. This study aims to profile the expression of some miRNAs in T1DM children to evaluate their role in the disease. MethodsMicroRNAs' (30, 451, 130, and 378) expression profiles in the plasma of 50 T1DM children and 50 age and gender-matched healthy volunteer controls were assayed by real-time PCR. ResultsMiRNA-451 and miRNA-378 were significantly upregulated, whereas miRNA-30 and miRNA-130 were significantly downregulated in T1DM patients compared to controls. A significant positive correlation existed between miRNA-30 and FBS and between miRNA-451 and both FBS, 2hPPBS, HbA1c, and disease duration. A significant negative correlation existed between miRNA-451 and the child's age and the onset of T1DM. ConclusionMiRNA-451 and miRNA-378 are upregulated, while miRNA-30 and miRNA-130 are downregulated in T1DM patients and could be used as biomarkers for the disease.

Value of High-Frequency Ultrasound in the Diagnosis of Pronator Teres Syndrome

Objective To investigate the clinical value of high-frequency ultrasound in the diagnosis of pronator teres syndrome (PTS). Methods The high-frequency ultrasound was employed to examine and measure the median nerve of the pronator teres muscle in 30 patients with PTS and 30 healthy volunteers (control group).The long-axis diameter (LA),short-axis diameter (SA) and cross-sectional area (CSA) of the median nerve were measured.The receiver operating characteristic curve of the median nerve ultrasonic measurement results was established,and the area under the curve (AUC) was calculated.The diagnostic efficiency of each index for PTS was compared with the surgical results as a reference. Results The PTS group showed larger LA[(5.02±0.50) mm vs.(3.89±0.41) mm;t=4.38,P=0.013],SA[(2.55±0.46) mm vs.(1.70±0.41) mm;t=5.19,P=0.009],and CSA[(11.13±3.72) mm2 vs.(6.88±2.68) mm2;t=8.42,P=0.008] of the median nerve than the control group.The AUC of CSA,SA,and LA was 94.3% (95%CI=0.912-0.972,Z=3.586,P=0.001),77.7% (95%CI=0.734-0.815,Z=2.855, P=0.006),and 78.8% (95%CI=0.752-0.821,Z=3.091,P=0.004),respectively.With 8.63 mm2 as the cutoff value,the sensitivity and specificity of CSA in diagnosing PTS were 93.3% and 90.0%,respectively. Conclusion High-frequency ultrasound is a practical method for diagnosing PTS,and the CSA of median nerve has a high diagnostic value.

Impact of robotic-assisted and video-assisted sympathetic nerve reconstruction on quality of life for severe compensatory hyperhidrosis after thoracic sympathectomy.

Severe compensatory hyperhidrosis (CH) is a disabling complication following thoracic sympathectomy. Our study was to establish valid patient selection criteria and determine outcomes of nerve reconstructive surgery. Furthermore, we assessed the clinical feasibility and safety of a robotic-assisted approach compared to video-assisted thoracoscopic surgery. Adults with severe CH following bilateral sympathectomy for primary hyperhidrosis were enrolled. We performed 2 questionnaires: the Hyperhidrosis Disease Severity Scale and the Dermatology Life Quality Index before and 6 months after nerve reconstructive surgery. A one-time evaluation of healthy volunteers (controls) was undertaken to validate the quality of life measures. Fourteen patients (mean age 34.1 ± 11.5 years) underwent sympathetic nerve reconstruction. None of the patients had a recurrence of primary hyperhidrosis. Improvement in quality of life was reported in 50% of patients. Both mean Hyperhidrosis Disease Severity Scale and mean Dermatology Life Quality Index were significantly reduced compared to preoperative assessments. In 10 patients, a video-assisted approach and in 4 patients robotic assistance was utilized. There was no significant difference in outcomes between approaches. Somatic-autonomic nerve reconstructive surgery offers a reversal in the debilitating symptoms in some patients with severe CH. Proper patient selection, preoperative counselling and management of expectation are of paramount importance. Robot-assisted thoracic surgery is an alternative method to conventional video-assisted surgery. Our study provides a practical approach and benchmark for future clinical practice and research.

COVID-19 Severity Shifts the Cytokine Milieu Toward a Proinflammatory State in Egyptian Patients: A Cross-Sectional Study.

Despite extensive research to decipher the immunological basis of coronavirus disease (COVID-19), limited evidence on immunological correlates of COVID-19 severity from MENA region and Egypt was reported. In a single-center cross-sectional study, we have analyzed 25 cytokines that are related to immunopathologic lung injury, cytokine storm, and coagulopathy in plasma samples from 78 hospitalized Egyptian COVID-19 patients in Tanta University Quarantine Hospital and 21 healthy control volunteers between April 2020 and September 2020. The enrolled patients were divided into 4 categories based on disease severity, namely mild, moderate, severe, and critically ill. Interestingly, interleukin (IL)-1-α, IL-2Rα, IL-6, IL-8, IL-18, tumor necrosis factor-alpha (TNF-α), FGF1, CCL2, and CXC10 levels were significantly altered in severe and/or critically ill patients. Moreover, principal component analysis (PCA) demonstrated that severe and critically ill COVID-19 patients cluster based on specific cytokine signatures that distinguish them from mild and moderate COVID-19 patients. Specifically, levels of IL-2Rα, IL-6, IL-10, IL-18, TNF-α, FGF1, and CXCL10 largely contribute to the observed differences between early and late stages of COVID-19 disease. Our PCA showed that the described immunological markers positively correlate with high D-dimer and C-reactive protein levels and inversely correlate with lymphocyte counts in severe and critically ill patients. These data suggest a disordered immune regulation, particularly in severe and critically ill Egyptian COVID-19 patients, manifested as overactivated innate immune and dysregulated T-helper1 responses. Additionally, our study emphasizes the importance of cytokine profiling to identify potentially predictive immunological signatures of COVID-19 disease severity.