High Carrier Frequency Research Articles

Blended Phenotype of NOTCH3 and RNF213 Variants With Accelerated Large and Small Artery Crosstalk: A Case Report and Literature Review.

Recent advancements in genome research have revealed not only the importance of variants associated with cerebrovascular diseases but also a notably high frequency of carriers harboring multiple variants, presenting with an elusive blended phenotype. In this study, we report the case of a 66-year-old man who experienced 3 stroke episodes over a 4-year period, starting at the age of 62 years. The patient presented with isolated infarcts in the left temporal pole with progressive stenosis in the ipsilateral middle cerebral artery based on large and small artery crosstalk. Exons 2-24 of the NOTCH3 gene were analyzed by direct genomic DNA sequencing. The presence of the p.Arg4810Lys variant of the ring finger protein 213 (RNF213) gene was evaluated using real-time PCR. Diagnoses of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and RNF213-related vasculopathy were made based on the early-onset recurrent stroke episode, progressive intracranial artery stenosis, and presence of the heterozygous NOTCH3 p.Cys1250Arg and RNF213 p.Arg4810Lys variants. Temporal pole infarcts could represent a blended phenotype of both variants. This case highlights the importance of large and small artery crosstalk and the pivotal role of genetic analysis in determining the pathogenesis of stroke and dementia.

Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank

PurposeTo date, approximately 1400 inherited metabolic disorders (IMDs) have been described, some of which are treatable. It is estimated that 2% to 3% of live births worldwide are affected by treatable IMDs. Roughly 80% of IMDs are autosomal recessive, leading to a potentially higher incidence in regions with high consanguinity. MethodologyThe study utilized genome sequencing data from 14,060 adult Qatari participants who were recruited by the Qatar Biobank and sequenced by the Qatar Genome Program. The genome sequencing data were analyzed for 125 nuclear genes known to be associated with 115 treatable IMDs. ResultsOur study identified 253 pathogenic/likely pathogenic single-nucleotide variations associated with 69 treatable IMDs, including 211 known and 42 novel predicted loss-of-function variants. We estimated that approximately 1 in 13 unrelated individuals (8%) carry a heterozygous pathogenic variant for at least 1 of 46 treatable IMDs. Notably, phenylketonuria/hyperphenylalaninemia and homocystinuria had among the highest carrier frequencies (1 in 68 and 1 in 85, respectively). ConclusionPopulation-based studies of treatable IMDs, particularly in globally under-studied populations, can identify high-frequency alleles segregating in the community and inform public health policies, including carrier and newborn screening.

Emphasizing on the envelope spectra of hydraulic turbomachinery vibration response towards cavitation diagnosis

Cavitation attracts the interest of engineers who target the better understanding of its complex physics and the development of efficient detection tools. This research explores the effectiveness of vibration-based indicators in the prompt and effective diagnosis of cavitation initiating in the rotating flow fields of turbomachinery. The indicators are derived from the envelope spectra estimated with the use of Hilbert Transform, Spectral Kurtosis and Cyclic Spectral Correlation algorithms and data acquired from two semi-open impellers. By utilizing a transparent casing, the onset of cavitation can be observed, enabling the establishment of reliable criteria for evaluating the new indicators. Also, their applicability is assessed across a wide range of flow-rate and suction pressure conditions and in two different geometries. The results demonstrate the consistent ability of the indicators to exploit the high frequency carrier information related with the resonances excited from bubble implosions, to promptly and efficiently detect the phenomenon.

Pseudodominance in RFC1-Spectrum Disorder.

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) and disease spectrum is an autosomal recessive disorder associated with biallelic repeat expansion (RE) in the RFC1 gene. A high carrier frequency in the healthy population determines the possibility of having affected members in two consecutive generations. We describe pseudodominance in two families affected with RFC1 disorder (10 affected, 5 oligo/asymptomatic individuals). In Family A, after the 75-year-old index case was diagnosed with CANVAS, the 73-year-old wife decided to undergo screening for carrier testing. Although she did not report any symptoms, she resulted positive for the biallelic AAGGG RE thus leading to a diagnosis in the asymptomatic offspring as well and revealing a pseudodominant pattern of inheritance. In Family B pseudodominance was suspected after the identification of the RFC1 RE in the proband affected by sensitive neuropathy because of a positive family history for undetermined polyneuropathy in the mother. The post-mortem identification of the RFC1 RE in a sample specimen from the deceased mother, who had been under our care, allowed the solution of a "cold case". Our report suggests that pseudodominance is a confounding phenomenon to consider in RFC1-spectrum disorder and genetic counselling is instrumental in families with affected individuals.

Quality of Life Assessment in Romanian Patients with Spinal Muscular Atrophy Undergoing Nusinersen Treatment.

Spinal muscular atrophy (SMA), identified over a century ago, is characterized by severe muscle wasting and early mortality. Despite its rarity, the high carrier frequency of the responsible genetic mutations and the variability in its manifestations make it a significant research focus. This prospective cross-sectional descriptive study evaluated health-related quality of life (HRQoL) across eight health domains in 43 Romanian SMA patients treated with nusinersen, using the SF-36 questionnaire to analyze influencing factors. The survey was conducted online with informed consent, and the data were analyzed using MedCalc software, employing both parametric and non-parametric statistical tests for accurate interpretation. The results revealed significant variations in HRQoL. Most patients were non-ambulatory (74.4%), reflecting SMA's impact on mobility. Urban residents reported better outcomes, particularly in physical functioning (p = 0.014), which may be attributed to improved access to healthcare services. Younger participants (under 14), represented by proxy responses, noted better general health (p = 0.0072) and emotional well-being (p = 0.0217) compared to older participants. These findings suggest that younger patients or their proxies perceive a better health status, highlighting the need for age-specific approaches in SMA management and the potential optimistic bias associated with proxy reporting on perceived health outcomes.

The Impact of Different MEFV Genotypes on Clinical Phenotype of Patients with Familial Mediterranean Fever: Special Emphasis on Joint Involvement

Familial Mediterranean Fever (FMF) is the most common monogenic autoinflammatory disease worldwide. In this retrospective cohort study, we aimed to assess the effects of various MEFV genotypes on the clinical characteristics of the patients, with a special focus on the joint involvement. In total, 782 patients with FMF were categorized into 3 groups according to the MEFV mutation; Group 1: Patients homozygous for M694V; Group 2: Patients carrying other pathogenic MEFV variants in exon 10 in homozygous or compound heterozygous states; and Group 3: FMF patients with other variants or without mutations. Clinical and demographic findings were compared between groups. Among the 782 FMF patients, total frequency of arthritis was 237 (30.3%): 207 (26.4%) were acute monoarthritis and 67 (8.5%) were chronic arthritis. Both the frequency of arthritis (acute and/or chronic) (40.4% vs. 24.8% vs. 26.7%; p:0.001) and acute monoarthritis (35.4% vs. 20% vs. 23.7%; p:0.001) were significantly higher in Group 1 than in the other groups. FMF patients with chronic arthritis showed a distinct juvenile idiopathic arthritis (JIA) distribution pattern with a more frequent enthesitis-related arthritis (ERA) subtype (43.2%). HLA-B27 was positive in 24% of the ERA patients.Conclusion: Homozygous M694V mutation is associated with a more frequent and longer acute monoarthritis comparing to other MEFV genotypes. In addition, the risk of chronic arthritis seems not related to the MEFV mutations. However, FMF patients with chronic arthritis show a distinct ILAR JIA distribution pattern with a more frequent ERA and undifferentiated arthritis subtype.What is known:• Homozygous M694V mutation is associated with a more frequent and longer acute monoarthritisWhat is new:• FMF patients with chronic arthritis show a distinct ILAR JIA distribution pattern with a more frequent ERA subtype• ERA patients with negative HLA-B27 antigen should also be assessed for polyserositis episodes of FMF, especially in countries with high FMF carrier frequency

High–Speed Laser Modulation for Low–Noise Micro–Cantilever Array Deflection Measurement

In this paper, an innovative approach is introduced to address the noise issues associated with micro–cantilever array deflection measurement systems employing multiple lasers. Conventional systems are affected by laser mode hopping during switching, resulting in wavelength instability and beam spot fluctuations that take several hundred milliseconds to stabilize. To mitigate these limitations, a high–speed laser modulation technique is utilized, leveraging the averaging effect over multiple modulation cycles within the sampling window. By driving the lasers with a high–frequency carrier signal, a low–noise and stable output suitable for micro–cantilever beam deflection measurement is achieved. The effectiveness of this approach is demonstrated by simultaneously modulating the lasers and rapidly observing the spectral and centroid variations during high–speed switching using a custom–built high–speed spectrometer. The centroid fluctuations are also analyzed under different modulation frequencies. The experimental results confirm that the high–speed modulation method can reduce the standard deviation of beam spot fluctuations by more than 90%, leading to significant improvements in noise reduction compared to traditional laser switching methods. The proposed high–speed laser modulation approach offers a promising solution for enhancing the precision and stability of multi–laser micro–cantilever array deflection measurement systems.

Spectrum of rare and common mitochondrial DNA variations from 1029 whole genomes of self-declared healthy individuals from India

Mitochondrial disorders are a class of heterogeneous disorders caused by genetic variations in the mitochondrial genome (mtDNA) as well as the nuclear genome. The spectrum of mtDNA variants remains unexplored in the Indian population. In the present study, we have cataloged 2689 high confidence single nucleotide variants, small insertions and deletions in mtDNA in 1029 healthy Indian individuals. We found a major proportion (76.5 %) of the variants being rare (AF<=0.005) in the studied population. Intriguingly, we found two ‘confirmed’ pathogenic variants (m.1555 A>G and m.14484 T>C) with a frequency of ∼1 in 250 individuals in our dataset. The high carrier frequency underscores the need for screening of the mtDNA pathogenic mutations in newborns in India. Interestingly, our analysis also revealed 202 variants in our dataset which have been ‘reported’ in disease cases as per the MITOMAP database. Additionally, we found the frequency of haplogroup M (52.2 %) to be the highest among all the 18 top-level haplogroups found in our dataset. In comparison to the global population datasets, 20 unique mtDNA variants are found in the Indian population. We hope the whole genome sequencing based compendium of mtDNA variants along with their allele frequencies and heteroplasmy levels in the Indian population will drive additional genome scale studies for mtDNA. Furthermore, the identification of clinically relevant variants in our dataset will aid in better clinical interpretation of the variants in mitochondrial disorders.

Error analysis of OFDM‐IM systems for beyond 5G: The effect of IQI at transceiver

SummaryIt is well known that hardware impairments (HWIs) can worthy reduce the wireless system performance at high carrier frequencies by showing random effects. Most current researches for 5 GB systems assume that transmitters and receivers (transceivers) are perfectly equipped. But wireless transceivers ( ) are affected by HWIs in practice. Considering the previous studies in the literature, it is reported that HWIs have devastating effects on the performance of OFDM and OFDM‐index modulation (IM) systems with fading channels. In this paper, in‐phase and quadrature phase imbalance (IQI), which is the one of most HWIs between transmitter and receiver in wireless communication systems, is examined on OFDM‐IM system over Rayleigh and Nakagami‐ fading channels. Two well‐known detectors, the maximum likelihood (ML) detector and the log‐likelihood ratio (LLR) detector are used under the effect of the IQI at . Error performance analyzes over fading channels of the IQI effect on OFDM‐IM system are realized first theoretically and then by computer simulations. Results obtained for the presence of IQI at show that a performance evaluation based only on the presence of IQI in the receiver would be optimistic and misleading in terms of the performance of real‐life OFDM‐IM systems.

Two-ray channel models with doppler effects for LEO satellite communications

In this paper we present some two-ray models with Doppler effects for Low Earth Orbit (LEO) satellite links. We show that satellite motion-caused Doppler shifts are different along the two rays, resulting in a time-varying phase shift. This is quantified with a few Doppler models and approximations. The combined interference effects, along with the path length difference caused phase shift, are calculated using a generic LEO pass-over. Channel gains are computed and compared using various antenna patterns and system parameters. The models show good agreements except for very low elevation angles. They demonstrate that a tracking antenna is effective in reducing fading for moderate to high elevation angles. Fixed patch antennas perform well. Omnidirectional and dipole antennas perform poorly. Higher carrier frequency and higher antenna height lead to faster fades. The fading becomes deeper at low elevation angles. Very fast fading is observed near the ends of a pass-over.

Temporal interference stimulation disrupts spike timing in the primate brain

Electrical stimulation can regulate brain activity, producing clear clinical benefits, but focal and effective neuromodulation often requires surgically implanted electrodes. Recent studies argue that temporal interference (TI) stimulation may provide similar outcomes non-invasively. During TI, scalp electrodes generate multiple electrical fields in the brain, modulating neural activity only at their intersection. Despite considerable enthusiasm for this approach, little empirical evidence demonstrates its effectiveness, especially under conditions suitable for human use. Here, using single-neuron recordings in non-human primates, we establish that TI reliably alters the timing, but not the rate, of spiking activity. However, we show that TI requires strategies—high carrier frequencies, multiple electrodes, and amplitude-modulated waveforms—that also limit its effectiveness. Combined, these factors make TI 80 % weaker than other forms of non-invasive brain stimulation. Although unlikely to cause widespread neuronal entrainment, TI may be ideal for disrupting pathological oscillatory activity, a hallmark of many neurological disorders.

Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population

Short-chain enoyl-coA hydratase (SCEH) deficiency due to biallelic pathogenic ECHS1 variants was first reported in 2014 in association with Leigh syndrome (LS) and increased S-(2-carboxypropyl)cysteine excretion. It is potentially treatable with a valine-restricted, high-energy diet and emergency regimen. Recently, Simon et al. described four Samoan children harbouring a hypomorphic allele (c.489G>A, p.Pro163=) associated with reduced levels of normally-spliced mRNA. This synonymous variant, missed on standard genomic testing, is prevalent in the Samoan population (allele frequency 0.17). Patients with LS and one ECHS1 variant were identified in NZ and Australian genomic and clinical databases. ECHS1 sequence data were interrogated for the c.489G>A variant and clinical data were reviewed. Thirteen patients from 10 families were identified; all had Pacific ancestry including Samoan, Māori, Cook Island Māori, and Tokelauan. All developed bilateral globus pallidi lesions, excluding one pre-symptomatic infant. Symptom onset was in early childhood, and was triggered by illness or starvation in 9/13. Four of 13 had exercise-induced dyskinesia, 9/13 optic atrophy and 6/13 nystagmus. Urine S-(2-carboxypropyl)cysteine-carnitine and other SCEH-related metabolites were normal or mildly increased. Functional studies demonstrated skipping of exon four and markedly reduced ECHS1 protein. These data provide further support for the pathogenicity of this ECHS1 variant which is also prevalent in Māori, Cook Island Māori, and Tongan populations (allele frequency 0.14-0.24). It highlights the need to search for a second variant in apparent heterozygotes with an appropriate phenotype, and has implications for genetic counselling in family members who are heterozygous for the more severe ECHS1 alleles. SYNOPSIS: Short-chain enoyl-CoA hydratase deficiency is a frequent cause of Leigh-like disease in Māori and wider-Pacific populations, due to the high carrier frequency of a hypomorphic ECHS1 variant c.489G>A, p.[Pro163=, Phe139Valfs*65] that may be overlooked by standard genomic testing.

Genetic background of primary and familial HLH in Qatar: registry data and population study.

Familial hemophagocytic lymphohistiocytosis (FHLH) is an inherited life-threatening disease. Five types are identified, with the addition of congenital immunodeficiency syndromes in which HLH is a typical manifestation. The literature on this disease is very scarce in the Middle East, with only a few scattered reports. We report detailed demographic, clinical, and genomic data from 28 patients diagnosed with primary and familial HLH over the last decade in Qatar. An evaluation was performed of allele frequencies of deleterious variants from 12 primary and familial HLH causative genes on the Qatar Genome Programme (QGP) cohort of 14,669 Qatari individuals. The genetic diagnosis was obtained in 15 patients, and four novel mutations in Perforin 1 (PRF1), UNC13D, LYST, and RAB27A genes were found. We identified 22,945 low/high/moderate/modifier impact variants significantly enriched in the QGP in those 12 genes. The variants rs1271079313 in PRF1 and rs753966933 in RAB27A found in our patient cohort were significantly more prevalent in the QGP compared to the Genome Aggregation Database (gnomAD) database, with a high carrier frequency in the Qatari population. We established the first primary and familial HLH Registry in the Gulf Region and identified novel possibly pathogenic variants present at higher frequency in the Qatari population, which could be used for screening purposes. Raising awareness about primary and familial HLH and implementing screening activities in the Qatari highly inbred population could stem into more comprehensive premarital and prenatal evaluations and faster diagnosis.

Enhancing data rate and energy efficiency of NOMA systems using reconfigurable intelligent surfaces for millimeter-wave communications

In this article, we employ reconfigurable intelligent surface (RIS) to aid a non-orthogonal multiple access (NOMA) system utilizing millimeter-wave (mmWave) communications. Different to recent works on the RIS-supported NOMA systems where the certain carrier frequency was often normalized (fc=1 Hz), we analyze specific impacts of high carrier frequencies in the mmWave band (fc≥30 GHz) on the performance of the RIS-supported NOMA system. In particular, we derive the exact expressions of achievable data rate (ADR) and energy efficiency (EE) of the RIS-supported NOMA system using mmWave band (RIS-mmWave-NOMA system). We compare the ADR and EE of the RIS-mmWave-NOMA system with those of mmWave-NOMA system without RIS, where there are only source-user channels. Numerical illustrations clarify the benefits of utilizing RIS as well as the great impacts of high fc in mmWave band on the ADR and EE of the RIS-mmWave-NOMA system. More specifically, when fc increases from 50 to 100 GHz, the transmit power of source should be increased 8 dBm to achieve the same ADR. Meanwhile, the maximal EE with fc=100 GHz is greatly lower than the maximal EE with fc=50 GHz even though higher transmit power is used. In other words, when fc increases, higher transmit power can be used for the ADR aims but this method cannot be used for EE purposes. In these circumstances, utilizing a larger number of reflecting elements (REs) in the RIS is a good method. By using N≥200 REs, the ADR and EE of the RIS-mmWave-NOMA system are significantly higher than those of mmWave-NOMA system without RIS. Finally, we confirm the exactness of the derived formulas through Monte-Carlo simulations.

Full/half-duplex unmanned aerial vehicles assisted wireless systems: Performance analysis and optimization

In this paper, we explore the utilization of both full-duplex (FD) and half-duplex (HD) transmission modes on unmanned aerial vehicles (UAVs) to enhance wireless system performance. We consider two practical scenarios: one without a direct transmitter-user link and the other with such a link. For both cases, we derive mathematical expressions of outage probabilities (OPs) and throughputs of FD-UAV and HD-UAV systems, employing a realistic channel model aligned with the fifth and beyond generations (5G-B5G) standards. In cases where imperfect self-interference cancellation (SIC) occurs in FD-UAV systems, we introduce an optimal power allocation approach to enhance system performance. Numerical results underscore the benefits of cooperative communications, particularly when combining the direct link with the UAV link at the user, leading to an overall enhancement in system performance. Furthermore, we conduct a comprehensive analysis of various system parameters, including predefined rates, residual self-interference (RSI) levels, high carrier frequencies of Wi-Fi networks, and high altitudes of UAVs. The impact of RSI is particularly notable, and the proposed optimal power allocation approach significantly improves system performance in such cases. Specifically, the introduced scheme helps avoid error floors in regions of high transmit power, enabling throughputs to reach desired targets in FD-UAV systems. Crucially, the optimal power value is considerably lower than the traditional value often used without optimal power allocation, extending the operational duration of FD-UAV. Finally, to validate the derived mathematical expressions and affirm the effectiveness of the proposed approaches, we conduct Monte-Carlo simulations.

High carrier frequency for abetalipoproteinemia and evidence of a founder variant in a French-Canadian population

Abetalipoproteinemia (ABL) is a rare recessive genetic disease caused by bi-allelic pathogenic variants in the microsomal triglyceride transfer protein (MTTP) gene. This disease is characterized by a deficiency in the secretion of apolipoprotein B-containing lipoproteins. Patients with ABL present with neurological, hematological, and gastrointestinal symptoms due to fat malabsorption and a deficiency in liposoluble vitamins. In this report, we present a total of four ABL cases, including three new cases, all originating from the same French-Canadian founder population in Saguenay-Lac-Saint-Jean, Québec, Canada. These individuals are homozygous for the same pathogenic variant in the MTTP gene (c.419dup, p.Asn140Lysfs*2). We found that this variant is more common than anticipated in this population, with an estimated carrier frequency of 1:203. Early diagnosis is essential to initiate treatment known to prevent complications associated with ABL. Population carrier screening or newborn screening for ABL should be considered in this French-Canadian founder population.

Carrier Screening and Diagnosis for Spinal Muscular Atrophy Using Droplet Digital PCR Versus MLPA: Analytical Validation and Early Test Outcome.

Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular life-threatening disorder. Owing to high carrier frequency, population-wide SMA screening to quantify the copy number of SMN gene is recommended by American College of Medical Genetics and Genomics. An accurate, reliable, short runaround time and cost-effective method may be helpful in mass population screening for SMA. Methods: Multiplex ligation-dependent probe amplification (MLPA) is a gold standard to estimate the copy number variation (CNV) for SMN1 and SMN2 genes. In this study, we validated droplet digital polymerase chain reaction (ddPCR) for the determination of CNV for both SMN1 and SMN2 exon 7 for a diagnostic purpose. In total, 66 clinical samples were tested using ddPCR, and results were compared with the MLPA as a reference test. Results: For all samples, CNV for SMN1 and SMN2 exon 7 was consentaneous between ddPCR and MLPA test results (κ = 1.000, p < 0.0001). In addition, ddPCR also showed a significant acceptable degree of test repeatability, coefficient of variation < 4%. Conclusion: ddPCR is expected to be utilitarian for CNV detection for carrier screening and diagnosis of SMA. ddPCR test results for CNV detection for SMN1/SMN2 exon 7 are concordant with the gold standard. ddPCR is a more cost-effective and time-saving diagnostic test for SMA than MLPA. Furthermore, it can be used for population-wide carrier screening for SMA.

High carrier frequency of CYP21A2 gene mutations in Southern India - underscoring the need for genetic testing in Congenital Adrenal Hyperplasia.

Congenital Adrenal Hyperplasia (CAH) is one of the highly prevalent autosomal recessive endocrine disorders. The majority of CAH cases result from mutations in the CYP21A2 gene, leading to 21-hydroxylase deficiency. However, with the pseudogene-associated challenges in CYP21A2 gene analysis, routine genetic diagnostics and carrier screening in CAH are not a part of the first-tier investigations in a clinical setting. Furthermore, there is a lack of data on the carrier frequency for 21-OH deficiency. Therefore, this study is aimed at investigating the carrier frequency of common pseudogene derived CYP21A2 mutations in Southern India. Recently, a cost-effective Allele-specific PCR based genotyping for CYP21A2 hotspot mutations has been demonstrated to be a highly specific and sensitive assay at the authors' center. Leveraging this approach, a total of 1034 healthy individuals from South India underwent screening to identify the carrier frequency of nine hotspot mutations in the CYP21A2 gene. In this study, it was observed that 9.76% of the subjects were carriers for one or more of the nine different CYP21A2 mutations. Among the carriers, the most common was the large 30 kb deletion, followed by II72N, E6 CLUS, and I2G mutations. We have identified a high prevalence of CYP21A2 mutation carriers in Southern India. These findings emphasize the importance of implementing and expanding cost-effective genetic diagnostics and carrier screening throughout India. Such initiatives would play a crucial role in managing the disease burden, enabling early intervention, and establishing guidelines for CAH newborn genetic screening in the country. This study represents the first carrier screening data on CYP21A2 hotspot mutations from India and is the largest study conducted till date in this context.

The impact of radiofrequency exposure on Aedes aegypti (Diptera: Culicidae) development.

Wireless communication connects billions of people worldwide, relying on radiofrequency electromagnetic fields (RF-EMF). Generally, fifth-generation (5G) networks shift RF carriers to higher frequencies. Although radio, cell phones, and television have benefitted humans for decades, higher carrier frequencies can present potential health risks. Insects closely associated with humans (such as mosquitoes) can undergo increased RF absorption and dielectric heating. This process inadvertently impacts the insects' behaviour, morphology, and physiology, which can influence their spread. Therefore, this study examined the impact of RF exposure on Ae. aegypti mosquitoes, which are prevalent in indoor environments with higher RF exposure risk. The morphologies of Ae. aegypti eggs and their developments into Ae. aegypti mosquitoes were investigated. A total of 30 eggs were exposed to RF radiation at three frequencies: baseline, 900 MHz, and 18 GHz. Each frequency was tested in triplicate. Several parameters were assessed through daily observations in an insectarium, including hatching responses, development times, larval numbers, and pupation periods until the emergence of adult insects. This study revealed that the hatching rate for the 900 MHz group was the highest (79 ± 10.54%) compared to other exposures (p = 0.87). The adult emergence rate for the 900 MHz group was also the lowest at 33 ± 2.77%. A significant difference between the groups was demonstrated in the statistical analysis (p = 0.03). This work highlighted the morphology sensitivity of Ae. aegypti eggs and their developments in the aquatic phase to RF radiation, potentially altering their life cycle.

Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases

Genetic neuromuscular diseases are clinically and genetically heterogeneous genetic disorders that primarily affect the peripheral nerves, muscles, and neuromuscular junctions. This study aimed to identify pathogenic variants, calculate carrier frequency, and predict the genetic prevalence of autosomal recessive neuromuscular diseases (AR-NMDs). We selected 268 AR-NMD genes and analyzed their genetic variants sourced from the gnomAD database. After identifying the pathogenic variants using an algorithm, we calculated the carrier frequency and predicted the genetic prevalence of AR-NMDs. In total, 10,887 pathogenic variants were identified, including 3848 literature verified and 7039 manually verified variants. In the global population, the carrier frequency of AR-NMDs is 32.9%, with variations across subpopulations ranging from 22.4% in the Finnish population to 36.2% in the non-Finnish European population. The predicted genetic prevalence of AR-NMDs was estimated to be 24.3 cases per 100,000 individuals worldwide, with variations across subpopulations ranging from 26.5 to 41.4 cases per 100,000 individuals in the Latino/Admixed American and the Ashkenazi Jewish populations, respectively. The AR-NMD gene with the highest carrier frequency was GAA (1.3%) and the variant with the highest allele frequency was c.-32-13 T>G in GAA with 0.0033 in the global population. Our study revealed a higher-than-expected frequency of AR-NMD carriers, constituting approximately one-third of the global population, highlighting ethnic heterogeneity in genetic susceptibility.