Search

In this work a chemical energy storage facility is designed. Fluctuating energy can be normalized by storing the excess of energy in form of ammonium formate. When demand is high the reverse process can deliver constant electricity. The roundtrip efficiency of this design using existing technologies is 21 %. The capital and operational expenditures are €38 M and €10 M/y to generate 5 MW of constant power from a fluctuating energy source. The breakeven energy price after storage is €0.33/kWh. After future development this system should be capable to compete with alternative storage methods.

Latar Belakang: Generasi Z menjadi penggerak tren belanja modern yang dipengaruhi oleh teknologi. Salah satu fenomena yang muncul adalah menu anxiety yaitu perasaan cemas dalam memilih makanan. Kondisi ini berpotensi menyebabkan asupan gizi menjadi tidak optimal, dan dapat memengaruhi status gizi. Tujuan: Menganalisis hubungan antara menu anxiety, pemilihan makanan, dan kebiasaan makan terhadap status gizi Generasi Z di wilayah Cinere, Depok. Metode: Penelitian ini menggunakan desain penelitian cross-sectional dengan 90 subjek Generasi Z rentang usia 16-18 tahun di Sekolah Menengah Atas Swasta (SMAS) Islam Dian Didaktika, Cinere, Depok. Data yang dikumpulkan mencakup karakteristik subjek, Kebiasaan makan dikumpulkan menggunakan kuesioner, dan pola makan berdasarkan Food Frequency Questionnaire (FFQ). Berat dan tinggi badan diukur secara langsung. Uji bivariat menggunalan Spearman Rank. Hasil: Sebanyak 65,5% subjek mengalami menu anxiety, dengan 86,2% memilih menu berdasarkan rasa. Alasan utama kesulitan memilih menu adalah rasa takut menyesal (41,4%) dan banyaknya pilihan menu (26,4%). Subjek mengonsumsi buah (46,0%) dan sayur (40,2%) sekitar 2-4 hari/minggu, dan memiliki status gizi baik. Terdapat hubungan antara frekuensi makan diluar (eating out) dengan status gizi subjek berdasarkan indeks massa tubuh berdasarkan umur (IMT/U) (p-value=0,019; r=0,252), tetapi tidak terdapat hubungan signifikan antara kebiasaan makan buah, sayur, snack manis, dan minuman manis dengan status gizi (p-value>0,05) . Kesimpulan: Kebiasaan eating out berhubungan dengan status gizi. Menu anxiety, pertimbangan dalam pemilihan makanan, dan konsumsi buah, sayur, snack manis, dan minuman manis tidak menunjukkan hubungan dengan status gizi.

Abstract Background Persistent symptoms are common after SARS-CoV-2 infection but correlation with objective measures is unclear. Methods We invited all 3098 adults who tested SARS-CoV-2 positive in Iceland before October 2020 to the deCODE Health Study. We compared multiple symptoms and physical measures between 1706 Icelanders with confirmed prior infection (cases) who participated, and 619 contemporary and 13,779 historical controls. Cases participated in the study 5–18 months after infection. Results Here we report that 41 of 88 symptoms are associated with prior infection, most significantly disturbed smell and taste, memory disturbance, and dyspnea. Measured objectively, cases had poorer smell and taste results, less grip strength, and poorer memory recall. Differences in grip strength and memory recall were small. No other objective measure associated with prior infection including heart rate, blood pressure, postural orthostatic tachycardia, oxygen saturation, exercise tolerance, hearing, and traditional inflammatory, cardiac, liver, and kidney blood biomarkers. There was no evidence of more anxiety or depression among cases. We estimate the prevalence of long Covid to be 7% at a median of 8 months after infection. Conclusions We confirm that diverse symptoms are common months after SARS-CoV-2 infection but find few differences between cases and controls in objective parameters measured. These discrepancies between symptoms and physical measures suggest a more complicated contribution to symptoms related to prior infection than is captured with conventional tests. Traditional clinical assessment is not expected to be particularly informative in relating symptoms to a past SARS-CoV-2 infection.

Abstract Background The severity of SARS-CoV-2 infection varies from asymptomatic state to severe respiratory failure and the clinical course is difficult to predict. The aim of the study was to develop a prognostic model to predict the severity of COVID-19 in unvaccinated adults at the time of diagnosis. Methods All SARS-CoV-2-positive adults in Iceland were prospectively enrolled into a telehealth service at diagnosis. A multivariable proportional-odds logistic regression model was derived from information obtained during the enrollment interview of those diagnosed between February 27 and December 31, 2020 who met the inclusion criteria. Outcomes were defined on an ordinal scale: (1) no need for escalation of care during follow-up; (2) need for urgent care visit; (3) hospitalization; and (4) admission to intensive care unit (ICU) or death. Missing data were multiply imputed using chained equations and the model was internally validated using bootstrapping techniques. Decision curve analysis was performed. Results The prognostic model was derived from 4756 SARS-CoV-2-positive persons. In total, 375 (7.9%) only required urgent care visits, 188 (4.0%) were hospitalized and 50 (1.1%) were either admitted to ICU or died due to complications of COVID-19. The model included age, sex, body mass index (BMI), current smoking, underlying conditions, and symptoms and clinical severity score at enrollment. On internal validation, the optimism-corrected Nagelkerke’s R 2 was 23.4% (95%CI, 22.7–24.2), the C-statistic was 0.793 (95%CI, 0.789-0.797) and the calibration slope was 0.97 (95%CI, 0.96–0.98). Outcome-specific indices were for urgent care visit or worse (calibration intercept -0.04 [95%CI, -0.06 to -0.02], E max 0.014 [95%CI, 0.008–0.020]), hospitalization or worse (calibration intercept -0.06 [95%CI, -0.12 to -0.03], E max 0.018 [95%CI, 0.010–0.027]), and ICU admission or death (calibration intercept -0.10 [95%CI, -0.15 to -0.04] and E max 0.027 [95%CI, 0.013–0.041]). Conclusion Our prognostic model can accurately predict the later need for urgent outpatient evaluation, hospitalization, and ICU admission and death among unvaccinated SARS-CoV-2-positive adults in the general population at the time of diagnosis, using information obtained by telephone interview.

A study of 768 convalescent SARS CoV-2-infected and 500 uninfected Icelanders reveals broad and stable T-cell responses 3-8 months from infection. HLA alleles, disease severity, and age contribute to the heterogeneity of cellular immunity.

Abstract Multiple myeloma (MM) patients have increased risk of severe coronavirus disease 2019 (COVID-19) when infected by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Monoclonal gammopathy of undetermined significance (MGUS), the precursor of MM has been associated with immune dysfunction which may lead to severe COVID-19. No systematic data have been published on COVID-19 in individuals with MGUS. We conducted a large population-based cohort study evaluating the risk of SARS-CoV-2 infection and severe COVID-19 among individuals with MGUS. We included 75,422 Icelanders born before 1976, who had been screened for MGUS in the Iceland Screens Treats or Prevents Multiple Myeloma study (iStopMM). Data on SARS-CoV-2 testing and COVID-19 severity were acquired from the Icelandic COVID-19 Study Group. Using a test-negative study design, we included 32,047 iStopMM participants who had been tested for SARS-CoV-2, of whom 1754 had MGUS. Among these participants, 1100 participants, tested positive, 65 of whom had MGUS. Severe COVID-19 developed in 230 participants, including 16 with MGUS. MGUS was not associated with SARS-CoV-2 infection (Odds ratio (OR): 1.05; 95% confidence interval (CI): 0.81–1.36; p = 0.72) or severe COVID-19 (OR: 0.99; 95%CI: 0.52–1.91; p = 0.99). These findings indicate that MGUS does not affect the susceptibility to SARS-CoV-2 or the severity of COVID-19.

Background: One of the chemotherapy side effects on head and neck cancer patients is anticipatory nausea. However, the anticipatory nausea problem has not been properly resolved. Nausea might be psychologically reduced by hypnotherapy. There only have been very few studies conducted to examine the effects of hypnotherapy in alleviating anticipatory nausea. Purpose: This study aimed to determine the effect of hypnotherapy using Hanung induction technique on anticipatory nausea in head and neck cancer patients undergoing chemotherapy. Methods: This research employed a pre-post test of quasi-experiment with control group design. Consecutive sampling technique was used to obtain 64 subjects who met inclusion and exclusion criteria and were equally divided into the intervention and control groups. Hypnotherapy as the intervention was carried out in two sessions, each of which lasted for 20 minutes, with a week distance between sessions. The data were collected using a visual analog scale (VAS), which was used twice to measure anticipatory nausea and analyzed using the paired and independent-sample t-test. Result: The results showed that the mean score of anticipatory nausea in the intervention group reduced from 7.6±1.4 to 2.3 ±1.2 after hypnotherapy, while the mean in the control group increased from 6.4±1.6 to 6.7±1.4. There was a significant difference in the score of anticipatory nausea after the implementation of hypnotherapy between the intervention and the control group (p

Seiring dengan laju pertumbuhan penduduk yang disertai dengan percepatan kemajuan pembangunan di wilayah Cekungan Air Tanah (CAT) Bogor, terdeteksi pemakaian air di wilayah ini masih bergantung pada air tanah. Pemakaian air tanah untuk industri dan usaha komersial lainnya di CAT Bogor selama periode 5 tahun terakhir dari sumur bor yang terdaftar, masih menunjukkan kecenderungan yang terus meningkat, dan terdeteksi telah menyebabkan perubahan terhadap kondisi air tanah. Perubahan terjadi terutama pada sistem akuifer terkekang, yaitu berupa penurunan muka air tanah antara 0,065,07 m/tahun, demikian juga kualitas air tanah terkekang telah mengalami penurunan yang ditandai dengan kenaikan nilai Daya Hantar Listrik. Berdasarkan hasil evaluasi tersebut di atas, untuk menghindari, mengurangi, dan memulihkan penurunan kondisi air tanah tersebut, maka diperlukan upaya konservasi air tanah, salah satunya adalah dengan cara melakukan pengaturan pemakaian air tanah sesuai dengan daya dukung dan potensi ketersediaan air tanah. Hasil akhir dari penelitian ini diharapkan dapat memberikan pandangan mengenai permasalahan yang ada serta upaya pemecahannya yang perlu dilakukan baik oleh pemerintah dan semua pihak yang menggunakan air tanah.

Laju perkembangan yang pesat pada setiap sektor kehidupan di dataran pantai Surabaya-Pasuruan, Provinsi Jawa Timur, menyebabkan permintaan air bersih terus meningkat. Ironisnya, di daerah ini total kebutuhan akan air bersih tersebut masih tergantung pada air tanah. Kecenderungan peningkatan pemakaian air tanah tersebut dapat menimbulkan dampak negatif terhadap kondisi air tanah berupa penurunan kedudukan muka air tanah, dan dampak lainnya berupa intrusi air asin (air laut). Saat ini batas sebaran air tanah payau-asin pada akuifer tidak terkekang dari garis pantai di daerah Waru mencapai 3,3 km, Sidoarjo 10,8 km, Candi 5,9 km, Tanggulangin 9,9 km, dan Porong 8,7 km. Di daerah WatutulisWonoayuPopohBuduranSedati, air tanah payau atau asin pada akuifer terkekang terdapat pada akuifer yang dibentuk oleh batuan dari Formasi (F) Pucangan, berada pada kedalaman lebih dari 48 mbmt (m bawah muka tanah) di sekitar Buduran dan lebih dari 80 mbmt di sekitar Watutulis. Di daerah PulokertoKedungsari air tanah payau-asin dijumpai dalam akuifer pada kedalaman lebih dari 24 mbmt, yang merupakan batuan dari Formasi. Notopuro. Untuk mencegah dan mengurangi dampak negatif yang mungkin terjadi terhadap kondisi air tanah, maka diperlukan upaya pengendalian pemakaian air tanah, agar terjamin kelestarian pemakaiannya.

Presents a study which examined the influence of Charolais and Angus breeding levels on pre-weaning growth performance traits in crossbred calves. Materials and methods; Results and discussion; Conclusion.

Maturation of αβ lineage T cells in the thymus relies on the formation and cell surface expression of a pre-T cell receptor (TCR) complex, composed of TCRβ chain and pre-TCRα (pTCRα) chain heterodimers, giving rise to a diverse T cell repertoire. Genetic aberrations in key molecules involved in T cell development lead to profound T cell immunodeficiency. Definitive genetic diagnosis guides treatment choices and counseling. In this study, we describe the role of whole genome sequencing (WGS) in providing a definitive diagnosis for a child with T cell deficiency, where targeted panel sequencing of SCID genes and whole exome sequencing had failed. A novel homozygous 8kb deletion in PTCRA, encoding pTCRα, was identified. To date, use of WGS remains restricted and for many geographical regions, is clinically unavailable., Competing Interests: Competing interests: D.M. is a full-time employee and a shareholder of Vevo Therapeutics, and a shareholder of Deep Genomics Inc. S.W.S. is Editor-in-Chief of npj Genomic Medicine. All other authors declare no competing interests., (© 2025. The Author(s).)

Introduction: Hospitals across the country are facing increases in hospital length of stay ranging from 2% to 14%. This results in patients who stay in hospital for long periods of time being three times more likely to die in hospital. Therefore, identifying factors that contribute to longer hospital stays enhances the ability to improve services and quality of patient care. However, there is limited documented evidence on factors associated with longer hospital stays among surgical inpatients in Ethiopia and the study area., Objective: This study aimed to assess the length of hospital stay and associated factors among adult surgical patients admitted to surgical wards in Amhara Regional State Comprehensive Specialized Hospitals, Ethiopia, 2023., Methods: An institutional-based cross-sectional study was conducted among 452 adult surgical patients from April 17 to May 22, 2023. Data were collected based on a pretested, structured, interviewer-administered questionnaire, medical record review, and direct measurement of BMI. Study participants were selected using a systematic random sampling technique. The collected data were cleaned, entered into EpiData version 4.6.0 and exported to STATA version 14 for analysis. Binary logistic regression analysis was used. Variables with a p value <0.05 in the multivariable logistic regression analysis were considered statistically significant., Results: In the current study, the prevalence of prolonged hospital stay was 26.5% (95% CI: 22.7, 30.8). Patients referred from another public health facility (AOR = 2.65; 95% CI: 1.14, 6.14), hospital-acquired pneumonia (AOR = 3.64; 95% CI: 1.43, 9.23), duration of surgery ≥110 minutes (AOR = 2.54; 95% CI: 1.25, 5.16), being underweight (AOR = 5.21; 95%CI: 2.63, 10.33) and preoperative anemia (AOR = 3.22; 95% CI: 1.77, 5.86) were factors associated with prolonged hospital stays., Conclusion: This study found a significant proportion of prolonged hospital stays among patients admitted to surgical wards. Patients referred from another public health facility, preoperative anemia, underweight, duration of surgery ≥110 minutes, and hospital-acquired pneumonia were factors associated with prolonged hospital stay. Early screening and treatment of anemia and malnutrition before surgery can shorten the length of stay., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2024 Hurisa Dadi et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Bovine prolactin ( PRL ) gene is essential for the initiation and maintenance of lactation and exerts multiple effects on mammary alveoli to promote the synthesis and secretion of major components of milk. The objectives of this study were to identify mutations in PRL gene and to evaluate the mutations as potential markers of milk performance traits in cattle populations of Ethiopia. For this purpose, genomic DNA from whole blood was extracted through salting out procedure from 87 animals of five cattle populations of Ethiopia. Accordingly, three single nucleotide polymorphisms (SNPs) were identified of which one SNP g.8323T > A showed missense mutation while the other two SNPs revealed silent mutations. F ST values showed statistically significant genetic differentiation among the studied populations. Intermediate polymorphic information content was noted for most SNPs, which indicates the presence of sufficient genetic variation at this locus. Two SNPs showed heterozygote deficiency as a result of positive F IS values. Only g.8398A > G SNP have statistically significant ( p  < 0.05) effect on average daily milk yield, fat and solid not fat percentage in all studied cattle populations. Therefore, g.8398A > G SNP identified in this study influences cattle milk production and may be used as possible candidate SNP for marker-assisted selection programs in cattle populations of Ethiopia.

Background: Genetic aberrations in the NFκB pathway lead to primary immunodeficiencies with various degrees of severity. We previously demonstrated that complete ablation of the RelB transcription factor, a key component of the alternative pathway, results in an early manifested combined immunodeficiency requiring stem cell transplantation., Objective: To study the molecular basis of a progressive severe autoimmunity and immunodeficiency in three patients., Methods: Whole exome sequencing was performed to identify the genetic defect. Molecular and cellular techniques were utilized to assess the variant impact on NFκB signaling, canonical and alternative pathway crosstalk, as well as the resultant effects on immune function., Results: Patients presented with multiple autoimmune progressive severe manifestations encompassing the liver, gut, lung, and skin, becoming debilitating in the second decade of life. This was accompanied by a deterioration of the immune system, demonstrating an age-related decline in naïve T cells and responses to mitogens, accompanied by a gradual loss of all circulating CD19 + cells. Whole exome sequencing identified a novel homozygous c. C1091T (P364L) transition in RELB. The P364L RelB protein was unstable, with extremely low expression, but retained some function and could be transiently and partially upregulated following Toll-like receptor stimulation. Stimulation of P364L patient fibroblasts resulted in a marked rise in a cluster of pro-inflammatory hyper-expressed transcripts consistent with the removal of RelB inhibitory effect on RelA function. This is likely the main driver of autoimmune manifestations in these patients., Conclusion: Incomplete loss of RelB provided a unique opportunity to gain insights into NFκB's pathway interactions as well as the pathogenesis of autoimmunity. The P364L RelB mutation leads to gradual decline in immune function with progression of severe debilitating autoimmunity., (Copyright © 2022 Elsevier Ltd. All rights reserved.)

Background: Diacylglycerol acyl-CoA acyltransferase 1 (DGAT1) has become a promising candidate gene for milk production traits because of its important role as a key enzyme in catalyzing the final step of triglyceride synthesis. Thus use of bovine DGAT1 gene as milk production markers in cattle is well established. However, there is no report on polymorphism of the DGAT1 gene in Ethiopian cattle breeds. The present study is the first comprehensive report on diversity, evolution, neutrality evaluation and genetic differentiation of DGAT1 gene in Ethiopian cattle population. The aim of this study was to characterize the genetic variability of exon 8 region of DGAT1 gene in Ethiopian cattle breeds., Results: Analysis of the level of genetic variability at the population and sequence levels with genetic distance in the breeds considered revealed that studied breeds had 11, 0.615 and 0.010 haplotypes, haplotype diversity and nucleotide diversity respectively. Boran-Holstein showed low minor allele frequency and heterozygosity, while Horro showed low nucleotide and haplotype diversities. The studied cattle DGAT1 genes were under purifying selection. The neutrality test statistics in most populations were negative and statistically non-significant (p > 0.10) and consistent with a populations in genetic equilibrium or in expansion. Analysis for heterozygosity, polymorphic information content and inbreeding coefficient revealed sufficient genetic variation in DGAT1 gene. The pairwise F ST values indicated significant differentiation among all the breeds (F ST  = 0.13; p ≤ 0.05), besides the rooting from the evolutionary or domestication history of the cattle inferred from the phylogenetic tree based on the neighbourhood joining method. There was four separated cluster among the studied cattle breeds, and they shared a common node from the constructed tree., Conclusion: The cattle populations studied were polymorphic for DGAT1 locus. The DGAT1 gene locus is extremely crucial and may provide baseline information for in-depth understanding, exploitation of milk gene variation and could be used as a marker in selection programmes to enhance the production potential and to accelerate the rate of genetic gain in Ethiopian cattle populations exposed to different agro ecology condition., (© 2022. The Author(s).)

The coding-complete severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) genome sequences from 15 nasopharyngeal swabs collected in Addis Ababa, Ethiopia, during the period from December 2020 to March 2021 were determined using Illumina MiSeq technology. A sequence analysis identified that the B.1 SARS-CoV-2 lineage was most prevalent with the worrying emergence of B.1.1.7 in June 2021.

Background: STAT1 gain-of-function (GOF) is a primary immune dysregulatory disorder marked by wide infectious predisposition (most notably chronic mucocutaneous Candidiasis), autoimmunity, vascular disease and malignant predisposition. While atopic features have been described in some STAT1 GOF patients, they are not considered a predominant feature of the disease. Additionally, while eosinophilic gastrointestinal infiltration has been reported in some cases, this has always been described in the context of pre-existing oropharyngeal and/or esophageal Candidiasis., Clinical Cases: Herein, we report 3 members of a multi-generational family diagnosed with STAT1 GOF caused by a novel mutation in the N-terminal domain, c.194A>C (p.D65A). The proband presented initially with a long-standing history of treatment-refractory eosinophilic esophagitis (EoE) without preceding gastrointestinal tract fungal infections, and her mother was diagnosed with esophagitis as well., Conclusion: EoE has been previously associated with alterations to STAT6 and STAT3 signaling pathways. The current report expands the possible association between JAK/STAT-related disorders and EoE, suggesting that EoE could be a primary disease manifestation of STAT1 GOF, even in the absence of oropharyngeal and/or esophageal Candidiasis., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Scott, Sharfe, Dadi, Vong, Garkaby, Abrego Fuentes, Willett Pachul, Nelles, Nahum and Roifman.)

Background: STAT1 gain-of-function (GOF) is an immune dysregulatory disorder with poorly studied genotype-phenotype correlation, impeding prognostication and early intervention. Given previous mechanistic studies, as well as anecdotal clinical reports, we sought to systematically determine whether DNA-binding domain (DBD) mutations in STAT1 result in a different phenotype than mutations in other gene domains., Methods: Negative prognostic features previously identified by the International STAT1 GOF Study Group (invasive infections, intracranial aneurysms, and malignancy), as well as other clinical features and mortality, were compared within a cohort of 30 patients with STAT1 GOF diagnosed at our center, consisting of 9 patients with DBD mutations and 21 patients with non-DBD mutations. We subsequently re-analyzed mortality data from a large, previously-published 274-patient cohort by the International STAT1 GOF Study Group., Results: While no differences were noted with respect to malignancy or symptomatic aneurysms, invasive /opportunistic infections were substantially more common among DBD patients, as were sinopulmonary infections, bronchiectasis, enteropathy, endocrinopathies, lymphoproliferative manifestations, and recurrent fevers/HLH. DBD patients also had a lower probability of survival and younger age of mortality compared with non-DBD patients. Our re-evaluation of the published data from the International STAT1 GOF Study Group revealed a similar finding of earlier mortality among patients harboring DBD mutations., Conclusion: We report that STAT1 GOF patients with DBD mutations may be regarded as a unique subgroup, impacted more by early-onset profound combined immunodeficiency and with earlier mortality. These findings may impact clinical decision making with respect to early intervention, and in particular hematopoietic stem cell transplant considerations, in such patients., (© 2021 EAACI and John Wiley and Sons A/S. Published by John Wiley and Sons Ltd.)

Background: Management and control of the COVID-19 pandemic caused by the severe acute respiratory syndrome coronavirus SARS-CoV-2 is critically dependent on quick and reliable identification of the virus in clinical specimens. Detection of viral RNA by a colorimetric reverse transcription loop-mediated isothermal amplification (RT-LAMP) is a simple, reliable and cost-effective assay, deployable in resource-limited settings (RLS). Our objective was to evaluate the intrinsic and extrinsic performances of RT-LAMP in RLS., Methods: This is a multicenter prospective observational study of diagnostic accuracy, conducted from October 2020 to February 2021 in four African Countries: Cameroon, Ethiopia, Kenya and Nigeria; and in Italy. We enroled 1657 individuals who were either COVID-19 suspect cases, or asymptomatic and presented for screening. RNA extracted from pharyngeal swabs was tested in parallel by a colorimetric RT-LAMP and by a standard real time polymerase chain reaction (RT-PCR)., Findings: The sensitivity and specificity of index RT LAMP compared to standard RT-PCR on 1657 prospective specimens from infected individuals was determined. For a subset of 1292 specimens, which underwent exactly the same procedures in different countries, we obtained very high specificity (98%) and positive predictive value (PPV = 99%), while the sensitivity was 87%, with a negative predictive value NPV = 70%, Stratification of RT-PCR data showed superior sensitivity achieved with an RT-PCR cycle threshold (Ct) below 35 (97%), which decreased to 60% above 35., Interpretation: In this field trial, RT-LAMP appears to be a reliable assay, comparable to RT-PCR, particularly with medium-high viral loads (Ct < 35). Hence, RT-LAMP can be deployed in RLS for timely management and prevention of COVID-19, without compromising the quality of output., Competing Interests: The authors declare that this study was supported by the Bill & Melinda Gates Foundation [Grant Number INV-022,816]. Furthermore, New England Biolabs provided reagents free of charge. The authors have no additional interests to declare., (© 2021 The Authors.)

Considering the escalating number of scientific reports on the association between the leptin gene and diverse physiological traits and performance of cattle populations, this study was directed towards identifying SNPs in the leptin gene among five indigenous cattle breeds of Ethiopia. DNA samples were extracted from the nasal swabs of the Ethiopian indigenous cattle breeds: Arsi (n = 18), Horro (n = 20), Begait (n = 21), Boran (n = 19), and Fogera (n = 17) and the Korean Hanwoo (a representative taurine breed) (n = 20), followed by PCR amplification of exon 2 and exon 3 regions of the leptin gene and sequence analysis of the PCR products. Five SNPs, two (generating missense mutations) on exon 2 and three (generating silent mutations) on exon 3 regions, were explicated in this study. Allele frequency and genotype frequency distribution pertaining to the SNPs were recorded for the studied cattle breeds besides the minor allele frequency and deviation from the Hardy-Weinberg equilibrium. Positive F IS index values were recorded for all the markers except SNP2, illustrative of heterozygote deficiency. MEGA X software-based evolutionary divergence analysis of the phylogenetic tree based on the SNP data revealed that the large-sized breeds, Hanwoo, Begait, Boran, and Fogera, were more closely clustered compared to the small-sized Arsi breed. Among the seven haplotypes documented from the various breeds, sequence analysis was suggestive of haplotypes 1 and 2 to be ancestral haplotypes for the leptin gene. This study is envisaged to accelerate molecular breeding programs for the genetic improvement of the Ethiopian cattle breeds.

Attributable to their major function in pathogen recognition, the use of bovine leukocyte antigens (BoLA) as disease markers in immunological traits in cattle is well established. However, limited report exists on polymorphism of the BoLA gene in zebu cattle breeds by high resolution typing methods. Thus, we used a polymerase chain reaction sequence-based typing (PCR-SBT) method to sequence exon 2 of the BoLA class II DRB3 gene from 100 animals (Boran, n = 13; Sheko, n = 20; Fogera, n = 16; Horro, n = 19), Hanwoo cattle (n = 18) and Bangladesh Red Chittagong zebu (n = 14). Out of the 59 detected alleles, 43 were already deposited under the Immuno Polymorphism Database for major histocompatibility complex (IPD-MHC) while 16 were unique to this study. Assessment of the level of genetic variability at the population and sequence levels with genetic distance in the breeds considered in this study showed that Zebu breeds had a gene diversity score greater than 0.752, nucleotide diversity score greater than 0.152, and mean number of pairwise differences higher than 14, being very comparable to those investigated for other cattle breeds. Regarding neutrality tests analyzed, we investigated that all the breeds except Hanwoo had an excess number of alleles and could be expected from a recent population expansion or genetic hitchhiking. Howbeit, the observed heterozygosity was not significantly ( p < 0.05) higher than the expected heterozygosity. The Hardy Weinberg equilibrium (HWE) analysis revealed non-significant excess of heterozygote animals, indicative of plausible over-dominant selection. The pairwise FST values suggested a low genetic variation among all the breeds (FST = 0.056; p < 0.05), besides the rooting from the evolutionary or domestication history of the cattle. No detached clade was observed in the evolutionary divergence study of the BoLA-DRB3 gene, inferred from the phylogenetic tree based on the maximum likelihood model. The investigation herein indicated the clear differences in BoLA-DRB3 gene variability between African and Asian cattle breeds., Competing Interests: No potential conflict of interest relevant to this article was reported., (© Copyright 2021 Korean Society of Animal Sciences and Technology.)

Background: Genetic faults in several components of the nuclear factor-κB pathway cause immunodeficiency. Most defects lead to combined immunodeficiency with a range of severity. Heterozygous mutations in NFKB1 were associated with common variable immunodeficiency, however, homozygous mutations have not been described., Objective: We studied the molecular basis of combined immunodeficiency in a patient who presented with failure to thrive, persistent EBV viremia and hepatitis, pneumocystis jirovecii pneumonitis, and generalized lymphadenopathy., Methods: Whole genome and exome sequencing followed by Sanger confirmation were performed to identify the genetic defect. Molecular and cellular techniques were used to assess the variant impact on the nuclear factor-κB pathway and lymphocyte function., Results: Genetic analysis revealed a novel homozygous mutation in NFKB1, c.2878G>A, p.Gly960Arg (G960R). This affected p105 phosphorylation and p50 formation on antigen and cytokine stimulation, as well as attenuating nuclear signal transmission. As a result, both T- and B-cell maturation and function were perturbed. The number of memory CD4 + T cells were reduced, while CD8 + T cells consisted predominately of expanded differentiated populations. The function of T cells were diminished as shown by reduced responses to mitogens as well as diminished cytokine secretion. B-cell maturation was also affected, with decreased IgD + CD27 + memory B cells while transitional B cells were increased, likely contributing to the reduced ability to produce specific antibodies., Conclusion: Homozygous G960R mutation in NFKB1 leads to a severe clinical presentation of combined immunodeficiency. This was associated with blockade of nuclear factor-κB pathway signaling, resulting in aberrations in T- and B-cell maturation and function., (Copyright © 2020 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.)

Background: Ethiopian sheep populations such as Arsi-Bale, Horro and Adilo (long fat-tailed, LFT) inhabit mid to high-altitude areas; and Menz sheep (MZ, short fat-tailed) are adapted to cool sub-alpine environments. In contrast, Blackhead Somali sheep (BHS, fat-rumped) thrive well in arid and semi-arid areas characterized by high temperature and low precipitation. The genomic investigation of Ethiopian sheep populations may help to identify genes and biological pathways enable to adapt to the different ecological conditions., Objective: To uncover genomic regions and genes showing evidence of positive selection for altitude adaptation in Ethiopian sheep populations., Methods: A total of 72 animals inhabiting high-versus low-altitude environments were genotyped on an Ovine Infinium HD array (~ 600 K). Pairwise genetic differentiation (Fst) was calculated in sliding windows of 20 SNPs and the upper 1% smoothed Fst values were considered to represent positive selection signatures. Genes within < 25 kb of the most differentiated SNPs were considered as selection candidates., Results: Signatures of selection were detected in genes known to be associated high with altitude adaptation in MZ-BHS pair comparison (PPP1R12A, RELN, PARP2, and DNAH9) and in LFT-BHS pair comparison (VAV3, MSRB3,EIF2AK4, MET, and TACR1). The candidate genes (MITF, FGF5, MTOR, TRHDE, and TUBB3) associated with altitude adaptation and shared between the MZ-BHS and LTF-BHS pair comparisons were also detected as under selection. Further functional analyses reveal that the candidate genes were involved in biological processes and pathways relevant to adaptation under extreme altitudes, including respiratory system development and smoothened signaling pathway., Conclusion: The results of the present study could aid in-depth understanding and exploitation of the underlying genetic mechanisms for sheep and other livestock species adaptation to high-altitude environments.