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Frontiers in Genetics 2024has been at the forefront of genetic studies and biochemical modeling for over a century. Yet, the functions of many genes are still unknown, mainly because no...
has been at the forefront of genetic studies and biochemical modeling for over a century. Yet, the functions of many genes are still unknown, mainly because no phenotypic data are available. Herein, we present the first evidence data regarding the particular molecular and other quantifiable phenotypes, such as viability and anatomical anomalies, induced by a novel insertional mutant allele of the gene. So far, the functions have only been theorized based on electronic annotation and presumptive associations inferred upon high-throughput proteomics or RNA sequencing experiments. The descendants of individuals harboring the allele were scored in order to assess mutant embryonic, larval, and pupal viability Canton Special (CantonS). Our results revealed that the homozygous / genotype determines significant lethality both at the inception of the larval stage and during pupal development. The very few imago escapers that either breach or fully exit the puparium exhibit specific eye depigmentation, wing abnormal unfolding, strong locomotor impairment with apparent spasmodic leg movements, and their maximum lifespan is shorter than 2 days. Using the quantitative real-time PCR (qRT-PCR) method, we found that is upregulated in male flies, but an unexpected gene upregulation was also detected in heterozygous mutants compared to wild-type flies, probably because of regulatory perturbations induced by the transposon. Our work provides the first phenotypic evidence for the essential role of , a scenario in accordance with the putative role of this gene in carbohydrate-binding processes.
PubMed: 38957808
DOI: 10.3389/fgene.2024.1355368 -
Plastic and Reconstructive Surgery.... Jul 2024In prepectoral breast reconstruction, the acellular dermal matrix (ADM) is commonly used to envelop breast implants. Various wrapping methods have been proposed. We...
In prepectoral breast reconstruction, the acellular dermal matrix (ADM) is commonly used to envelop breast implants. Various wrapping methods have been proposed. We present a simple but aesthetic method (ie, the ray method) for wrapping in prepectoral breast reconstruction. Without any complicated design, we folded the four corners of one large ADM and sewed them together to completely envelop the implant. Then, the 6 o'clock corner of the ADM envelope was folded up and sutured to make a pentagonal shape. The other corners of the ADM envelope were quilted to determine the position and movement of the internal implant. Additional sutures were placed on the ADM envelope to separate the implant from the host tissue. The folded 6 o'clock corner was cut to a convex contour and had a diagonal gap to prevent the collection of fluid in the ADM envelope. Finally, the wrapped implant was inserted in the postmastectomy space, and the ADM envelope was spread widely to support soft tissue effectively. This simple design is straightforward for inexperienced surgeons and reduces operation time. The position and movement of the breast implant in the ADM envelope can be easily controlled by using quilted sutures. Subclavian depression and step-off deformities can be minimized by this wide-stretched ADM. By total coverage with a large ADM, the breast implant is separated from the surrounding tissue, and foreign body reactions are reduced. This method is reliable for maximizing the aesthetic advantages of prepectoral direct-to-implant breast reconstruction.
PubMed: 38957719
DOI: 10.1097/GOX.0000000000005835 -
Frontiers in Neuroanatomy 2024Extraocular muscles are innervated by two anatomically and histochemically distinct motoneuron populations: motoneurons of multiply-innervated fibers (MIF), and of...
INTRODUCTION
Extraocular muscles are innervated by two anatomically and histochemically distinct motoneuron populations: motoneurons of multiply-innervated fibers (MIF), and of singly-innervated fibers (SIF). Recently, it has been established by our research group that these motoneuron types of monkey abducens and trochlear nuclei express distinct ion channel profiles: SIF motoneurons, as well as abducens internuclear neurons (INT), express strong Kv1.1 and Kv3.1b immunoreactivity, indicating their fast-firing capacity, whereas MIF motoneurons do not. Moreover, low voltage activated cation channels, such as Cav3.1 and HCN1 showed differences between MIF and SIF motoneurons, indicating distinct post-inhibitory rebound characteristics. However, the ion channel profiles of MIF and SIF motoneurons have not been established in human brainstem tissue.
METHODS
Therefore, we used immunohistochemical methods with antibodies against Kv, Cav3 and HCN channels to (1) examine the human trochlear nucleus in terms of anatomical organization of MIF and SIF motoneurons, (2) examine immunolabeling patterns of ion channel proteins in the distinct motoneurons populations in the trochlear and abducens nuclei.
RESULTS
In the examination of the trochlear nucleus, a third motoneuron subgroup was consistently encountered with weak perineuronal nets (PN). The neurons of this subgroup had -on average- larger diameters than MIF motoneurons, and smaller diameters than SIF motoneurons, and PN expression strength correlated with neuronal size. Immunolabeling of various ion channels revealed that, in general, human MIF and SIF motoneurons did not differ consistently, as opposed to the findings in monkey trochlear and abducens nuclei. Kv1.1, Kv3.1b and HCN channels were found on both MIF and SIF motoneurons and the immunolabeling density varied for multiple ion channels. On the other hand, significant differences between SIF motoneurons and INTs were found in terms of HCN1 immunoreactivity.
DISCUSSION
These results indicated that motoneurons may be more variable in human in terms of histochemical and biophysiological characteristics, than previously thought. This study therefore establishes grounds for any histochemical examination of motor nuclei controlling extraocular muscles in eye movement related pathologies in the human brainstem.
PubMed: 38957435
DOI: 10.3389/fnana.2024.1411154 -
Frontiers in Pharmacology 2024Severe neonatal hyponatremia represents a critical electrolyte imbalance with potentially severe neurological outcomes, a condition rarely documented in...
Severe neonatal hyponatremia represents a critical electrolyte imbalance with potentially severe neurological outcomes, a condition rarely documented in community-acquired, full-term newborns. This report underscores a unique case of a 23-day-old, previously healthy, full-term male neonate experiencing severe hyponatremia that precipitated seizures, underscoring the urgency of prompt recognition and intervention. The neonate presented with symptoms including vomiting, groaning, chills, fixed staring, and limb tremors. Critical findings upon admission encompassed hypothermia, hypotension, tachycardia, and tachypnea accompanied by significant weight loss. The clinical presentation was marked by dehydration, lethargy, weak crying, a fixed gaze, irregular breathing, and coarse lung sounds, yet a distended abdomen, hypertonic limb movements, and recurrent seizures were observed. Immediate interventions included establishing IV access, rewarming, mechanical ventilation, seizure management, volume expansion, dopamine for circulatory support, and initiation of empirical antibiotics. Diagnostic evaluations revealed a sodium ion concentration of 105.9 mmol/L, while amplitude-integrated electroencephalography (aEEG) detected pronounced seizure activity characterized by a lack of sleep-wake rhythmicity, noticeable elevation in both the lower and upper amplitude margins, and a sustained decrease in the lower margin voltage dropping below 5 μV, presenting as sharp or serrated waveforms. The management strategy entailed rapid electrolyte normalization using hypertonic saline and sodium bicarbonate, anticonvulsant therapy, and comprehensive supportive care, with continuous aEEG monitoring until the cessation of seizures. Remarkably, by the third day, the neonate's condition had stabilized, allowing for discharge in good health 10 days post-admission. At a 16-month follow-up, the child exhibited no adverse neurological outcomes and demonstrated favorable growth and development. Our extensive review on the etiology, clinical manifestations, aEEG monitoring, characteristics of seizures induced by severe neonatal hyponatremia, treatment approaches, and the prognosis for seizures triggered by severe hyponatremia aims to deepen the understanding and enhance clinical management of this complex condition. It stresses the importance of early detection, accurate diagnosis, and customized treatment protocols to improve outcomes for affected neonates. Additionally, this review accentuates the indispensable role of aEEG monitoring in managing neonates at elevated risk for seizures. Yet, the safety and efficacy of swiftly administering hypertonic saline for correcting severe hyponatremia-induced seizures necessitate further investigation through medical research.
PubMed: 38957388
DOI: 10.3389/fphar.2024.1391024 -
Journal of Eye Movement Research 2021In a prior report (Raju et al., 2023) we concluded that, if the goal was to preserve events such as saccades, microsaccades, and smooth pursuit in eye-tracking...
In a prior report (Raju et al., 2023) we concluded that, if the goal was to preserve events such as saccades, microsaccades, and smooth pursuit in eye-tracking recordings, data with sine wave frequencies less than 75 Hz were the signal and data above 75 Hz were noise. Here, we compare five filters in their ability to preserve signal and remove noise. We compared the proprietary STD and EXTRA heuristic filters provided by our EyeLink 1000 (SR-Research, Ottawa, Canada), a Savitzky- Golay (SG) filter, an infinite impulse response (IIR) filter (low-pass Butterworth), and a finite impulse filter (FIR). For each of the non-heuristic filters, we systematically searched for optimal parameters. Both the IIR and the FIR filters were zero-phase filters. All filters were evaluated on 216 fixation segments (256 samples), from nine subjects. Mean frequency response profiles and amplitude spectra for all five filters are provided. Also, we examined the effect of our filters on a noisy recording. Our FIR filter had the sharpest roll-off of any filter. Therefore, it maintained the signal and removed noise more effectively than any other filter. On this basis, we recommend the use of our FIR filter. We also report on the effect of these filters on temporal autocorrelation.
PubMed: 38957346
DOI: 10.16910/jemr.14.3.6 -
Journal of Eye Movement Research 2021The Fourier theorem states that any time-series can be decomposed into a set of sinusoidal frequencies, each with its own phase and amplitude. The literature suggests...
The Fourier theorem states that any time-series can be decomposed into a set of sinusoidal frequencies, each with its own phase and amplitude. The literature suggests that some frequencies are important to reproduce key qualities of eye-movements ("signal") and some of frequencies are not important ("noise"). To investigate what is signal and what is noise, we analyzed our dataset in three ways: (1) visual inspection of plots of saccade, microsaccade and smooth pursuit exemplars; (2) analysis of the percentage of variance accounted for (PVAF) in 1,033 unfiltered saccade trajectories by each frequency band; (3) analyzing the main sequence relationship between saccade peak velocity and amplitude, based on a power law fit. Visual inspection suggested that frequencies up to 75 Hz are required to represent microsaccades. Our PVAF analysis indicated that signals in the 0-25 Hz band account for nearly 100% of the variance in saccade trajectories. Power law coefficients (a, b) return to unfiltered levels for signals low-pass filtered at 75 Hz or higher. We conclude that to maintain eyemovement signal and reduce noise, a cutoff frequency of 75 Hz is appropriate. We explain why, given this finding, a minimum sampling rate of 750 Hz is suggested.
PubMed: 38957345
DOI: 10.16910/jemr.14.3.5 -
Cureus Jun 2024Cerebral palsy is a neurodevelopmental condition that results in impaired movement and posture, often accompanied by disturbances in balance and functional abilities....
Comparison of the Conjunct Effects of Electrical Stimulation and Whole-Body Vibration Therapy with Transcranial Direct Current Stimulation and Whole-body Vibration Therapy on Balance and Function in Children With Spastic Cerebral Palsy.
BACKGROUND AND OBJECTIVES
Cerebral palsy is a neurodevelopmental condition that results in impaired movement and posture, often accompanied by disturbances in balance and functional abilities. Recent advances in neurorehabilitation, including whole-body vibration therapy (WBVT), functional electrical stimulation, and transcranial direct current stimulation, show promise in enhancing traditional interventions and fostering neuroplasticity. However, the efficacy of their conjunct effects remains largely uncharted territory and warrants further exploration. The objective of the study was to compare the conjunct effects of functional electrical stimulation (FES) and WBVT with transcranial direct current stimulation (tDCS) and WBVT on lower extremity range of motion (ROM), dynamic balance, functional mobility, isometric muscle strength and hand grip strength in children with spastic cerebral palsy.
METHODS
A randomized clinical trial was carried out on 42 children of both genders with spastic cerebral palsy, aged 5-15 years. The children were divided at random into three groups (14 in each group). In Group A, there were three (21.42%) males and 11 (78.57%) females, in Group B, eight (57.14%) were males and six (42.85%) were females, and in Group C, six (42.85%) children were males and eight (57.14%) were females. Group A received WBVT only, Group B received WBVT and FES, and Group C received WBVT and tDCS. The intervention was applied four times a week for four consecutive weeks. The data was collected two times before and immediately after four weeks of intervention. Lower extremity ROM was measured by a goniometer, functional mobility or dynamic balance was measured by a Time Up and Go test, isometric muscle strength was measured by a digital force gauge, and hand grip strength was assessed by a digital hand-held dynamometer. IBM SPSS Statistics for Windows, Version 27.0 (Released 2020; IBM Corp., Armonk, New York, United States) was utilized for statistical analysis.
RESULTS
The mean age of the children in groups A, B, and C was 12.21±2.11 years, 11.71±2.01, and 11.07±2.01 years respectively. Intergroup analysis revealed a statistically significant difference (p<0.05) in the lower extremity range of motion, and functional mobility. Hand grip strength and isometric muscle strength between three groups. Post hoc analysis revealed that WBVT with transcranial direct current stimulation combined showed the most improvement.
CONCLUSION
The study concluded that positive effects were seen in all three groups but tDCS with WBVT was found to be most effective in improving lower extremity ROM, functional mobility or dynamic balance, isometric muscle strength, and hand grip strength in children with spastic CP. The differences between the groups were statistically significant. The effect size was substantial enough to surpass established clinical benchmarks, indicating that the observed improvements are likely to have meaningful and beneficial impacts on patient outcomes.
PubMed: 38957262
DOI: 10.7759/cureus.61511 -
Cureus Jun 2024The most common form of movement disorder presented in children with cerebral palsy is spasticity, and dynamic equinus is the most common spastic ankle deformity....
BACKGROUND
The most common form of movement disorder presented in children with cerebral palsy is spasticity, and dynamic equinus is the most common spastic ankle deformity. Botulinum toxin (BT) injection is now an established first-line treatment for focal spasticity.
AIM
To assess the effects of BT injection with casting in the treatment of dynamic equinus in children diagnosed with cerebral palsy with spastic diplegia.
SETTING AND DESIGN
A prospective randomized controlled trial was conducted among patients aged 2-12 years with cerebral palsy and spastic diplegia, attending the general outpatient department and admitted to the indoor facility of the Department of Physical Medicine and Rehabilitation and the Department of Pediatric Orthopedics at King George's Medical University, Lucknow.
MATERIAL AND METHODS
Two groups of 19 patients each were formed. Group A received BT injection with casting, whereas in group B, only a cast was applied. Outcome measures including spasticity by Modified Ashworth Scale (MAS), Modified Tardieu Scale (MTS), range of motion (ROM), passive ankle dorsiflexion, and Gross Motor Function Measure (GMFM-66) (dimensions D and E) were assessed before and after the intervention.
RESULTS
The participants in groups A and B were age-matched. A statistically significant difference was seen within group A and group B for MAS, passive ROM-dorsiflexion (PROM-DF), and passive ROM-plantarflexion (PROM-PF) at various follow-ups. In the 3rd week, MAS in each group was statistically insignificant (p-value> 0.05).
CONCLUSION
There was a significant improvement in tone and a significant increase in the passive range of motion in both groups.
PubMed: 38957257
DOI: 10.7759/cureus.61515 -
Journal of Experimental Orthopaedics Jul 2024Although multiple scales exist to evaluate psychological readiness before returning to sport post-lateral ankle sprain (LAS), no score has been validated specifically...
PURPOSE
Although multiple scales exist to evaluate psychological readiness before returning to sport post-lateral ankle sprain (LAS), no score has been validated specifically for LAS or chronic ankle instability. The main aim of the study is to evaluate the validity and reproducibility of the ankle ligament reconstruction-return to sport injury (ALR-RSI) scale in assessing psychological readiness after LAS and its ability to identify patients who can return to their preinjury level.
METHODS
A total of 64 patients (35 females and 29 males; 33.8 ± 13.2 years) who recently experienced an acute LAS were included in this study. All patients participated in a predictive validation component of the study and were assessed at 2 and 4 months following an LAS. The ALR-RSI was completed twice by 20 patients at a 7-day interval to evaluate the reliability of the score in patients suffering from LAS.
RESULTS
The ALR-RSI was significantly ( < 0.001) and positively correlated with the other scores. The correlation was strong with the Foot and Ankle Ability Measure Sports: = 0.77; 95% confidence interval [CI]: 0.78-0.83) and moderate with the American Orthopaedic Foot and Ankle Society ( = 0.69; 95% CI: 0.60-0.78) and the Foot and Ankle Ability Measure Activities of Daily Living Scores ( = 0.63; 95% CI: 0.51-0.72). Two-month ALR-RSI scores had good ability for predicting nonreturners at 4 months (area under the curve = 0.76; 95% CI: 0.6-0.9; = 0.005). A Youden index of 0.51 was observed at an ALR-RSI score of 46%, corresponding to a sensitivity of 67% and specificity of 83%. Test-retest reliability of the ALR-RSI was excellent, with an ICC of 0.98 (95% CI: 0.96-0.99), a standard error of measurement of 3.02% and a minimum detectable change of 8.37%.
CONCLUSIONS
The results of the current study validated the ALR-RSI as an important questionnaire to assess psychological readiness to return to sport after LAS.
LEVEL OF EVIDENCE
Level II prospective cohort study.
PubMed: 38957229
DOI: 10.1002/jeo2.12073 -
Sign Language and Linguistics Oct 2020Sign languages are frequently described as having three verb classes. One, 'agreeing' verbs, indicates the person/number of its subject and object by modification of the...
Sign languages are frequently described as having three verb classes. One, 'agreeing' verbs, indicates the person/number of its subject and object by modification of the beginning and ending locations of the verb. The second, 'spatial' verbs, makes a similar appearing modification of verb movement to represent the source and goal locations of the theme of a verb of motion. The third class, 'plain' verbs, is characterized as having neither of these types of modulations. A number of researchers have proposed accounts that collapse all of these types, or the person-agreeing and spatial verbs. Here we present evidence from late learners of American Sign Language and from the emergence of new sign languages that person agreement and locative agreement have a different status in these conditions, and we claim their analysis should be kept distinct, at least in certain ways.
PubMed: 38957224
DOI: 10.1075/sll.00042.kwo