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As the demand for high-speed, low-latency communication continues to grow, free-space optical (FSO) communication has gained prominence as a promising solution for supporting the next generation of wireless networks, especially in the context of the 5G and beyond era. It offers high-speed, low-latency data transmission over long distances without the need for a physical infrastructure. However, the deployment of FSO systems faces significant challenges, such as atmospheric turbulence, weather-induced signal degradation, and alignment issues, all of which can impair performance. This paper offers a comprehensive survey of the enabling technologies, challenges, trends, and future prospects for FSO communication in next-generation networks, while also providing insights into the current mitigation strategies. The survey explores the critical enabling technologies such as adaptive optics, modulation schemes, and error correction codes that are revolutionizing FSO communication and addressing the unique challenges of FSO links. Also, the integration of FSO with radio frequency, millimeter-wave, and Terahertz technologies is explored, emphasizing hybrid solutions that enhance reliability and coverage. Additionally, the paper highlights emerging trends, such as the integration of FSO with artificial intelligence-driven optimization techniques and the growing role of machine learning in enhancing FSO system performance for dynamic environments. By analyzing the current trends and identifying key challenges, this paper emphasizes the prospects of FSO communication in the evolving landscape of 5G and future networks. In this regard, it assesses the potential of FSO to meet the demands for high-speed, low-latency communication and offers insights into its scalability, reliability, and deployment strategies for 5G and beyond. The paper concludes by identifying the open challenges and future research directions critical to realizing the full potential of FSO in next-generation communication systems. [ABSTRACT FROM AUTHOR]

We have used multiple sequencing approaches to sequence the genome of a volunteer from Saudi Arabia. We use the resulting data to generate a de novo assembly of the genome, and use different computational approaches to refine the assembly. As a consequence, we provide a contiguous assembly of the complete genome of an individual from Saudi Arabia for all chromosomes except chromosome Y, and label this assembly KSA001. We transferred genome annotations from reference genomes to fully annotate KSA001, and we make all primary sequencing data, the assembly, and the genome annotations freely available in public databases using the FAIR data principles. KSA001 is the first telomere-to-telomere-assembled genome from a Saudi individual that is freely available for any purpose. [ABSTRACT FROM AUTHOR]

Breastfeeding is globally recognized as the optimal method of infant nutrition, offering health benefits for both the child and the mother, making it a public health priority. However, the potential advantages of breastfeeding extend well beyond initial months. Breast milk adapts to the evolving needs of the growing infant, and its immunological, microbiological, and biochemical properties have been associated with enhanced protection against infections and chronic diseases, improved growth and development, and lower rates of hospitalization and mortality. This review explores the evidence supporting the continuation of breastfeeding beyond six months. More meticulous studies employing consistent methodologies and addressing confounders are essential. This will enable a more accurate determination of the extent and mechanisms of the positive impact of prolonged breastfeeding and allow for the implementation of effective public health strategies. [ABSTRACT FROM AUTHOR]

Background: Iron deficiency anemia (IDA) and the β-thalassemia trait (BTT) are two main causes of hypochromic–microcytic anemia worldwide. Researchers have described many red blood cell (RBC) indices as screening tests for presumptive differentiation, based on differences observed in complete blood count (CBC) data for each condition. There are few BTT reports in Chile, and neither laboratories nor clinical staff have widely used these indices. Objective: The objective of this study was to evaluate the diagnostic performance of 29 RBC indices in 182 patients (51 BTT and 131 IDA) and compare CBC results in both groups. Methods: A retrospective search was carried out in the Laboratory Information System between January 2021 and February 2024 to collect results from CBC, and 29 RBC indices were calculated for each patient. Then, sensitivity, specificity, positive predictive value, negative predictive value, Youden's index, positive likelihood ratio, negative likelihood ratio, and diagnostic accuracy were calculated using MedCalc©. Results: The Green and King, Wongprachum, and Keikhaei indices showed the best discriminatory power with Youden index values of 0.923, 0.908, and 0.896, respectively, and significant differences were observed in all CBC parameters between BTT and IDA patients (p < 0.001). Conclusions: The Green and King, Wongprachum, and Keikhaei indices showed the best performance; therefore, they can be used as screening for the differential diagnosis between BTT and IDA in order to improve diagnosis given the important therapeutic and epidemiological implications. In this way, clinical laboratories could have a main role in the investigation of these patients. [ABSTRACT FROM AUTHOR]

With the surge in mobile data traffic, leveraging Wi-Fi has become pivotal to alleviate the strain on LTE networks. An essential challenge lies in selecting the optimal Wi-Fi access point during Handover (HO), impacting Quality of Experience (QoE) and connection stability. This study introduces an innovative approach to enhance VoIP call Quality of Service (QoS) during HOs from LTE to Wi-Fi. Our contribution integrates two Mean Opinion Score (MOS) prediction models, multilayer perceptron (MLP) and recurrent neural networks (LSTMs) into the software-defined network controller (SDN), optimized by the Grey Wolf Optimizer (GWO). This solution provides accurate predictions for the SDN to forward mobile devices (MEs) and traffic to the nearest optimal Wi-Fi access points. Simulation results affirm the effectiveness of our approach. The LSTM-based approach performs well in the long run and provides better stability in terms of QoS parameters, especially when the metric of choice for mobile users is based on the Signal-to-Noise and Interference Ratio (SNIR), rather than the Received Signal Strength (RSSI) indicator. These results explore opportunities for the real-world deployment of the implemented models, particularly in urban areas experiencing cellular network congestion. [ABSTRACT FROM AUTHOR]

Background: Hemoglobinopathies are among the most prevalent inherited disorders globally, with carrier prevalence varying significantly across regions. In Saudi Arabia, high rates of consanguineous marriages amplify the risk of these disorders. Aim: This study aims to assess the burden of hemoglobinopathies by evaluating the prevalence and regional distribution of beta-hemoglobin variants, including rare variants, among couples participating in the national premarital screening program. Methods: Data were collected from the premarital genetic screening program and entered into the SEHA platform, covering the 13 administrative regions of Saudi Arabia. Blood samples underwent various screening tests for infectious and genetic diseases. Hemoglobin electrophoresis samples were analyzed using capillary electrophoresis, High-Performance Liquid Chromatography (HPLC), or a combination of both methods. Results: From 2011 to 2018, 1,871,184 individuals were included in the study, with 49.8% male and 50.2% female. The average age was 30.2 years. Hemoglobin S (HbS) was identified in 88,431 individuals (4.7% of the tested population and 78.5% of abnormal screening results), primarily as a sickle cell trait. β-thalassemia was the second most common disorder, identified in 22,420 individuals (1.2% of the population and 19.9% of hemoglobin disorders). HbC and HbD were each detected in 0.04% of cases, while HbO-Arab was identified in 0.007% and HbG in 0.006%. Hemoglobin E and hemoglobin Lepore were found to be extremely rare. Conclusion: The study demonstrates regional variation in the prevalence of hemoglobin genetic variants in Saudi Arabia. To effectively mitigate this risk, it is imperative to strengthen public education and awareness, particularly focusing on genetic screening and counseling. [ABSTRACT FROM AUTHOR]

Background and Aim: Globally, over 180,000 children develop cancers yearly, with about 80% residing in low‐ or middle‐income countries where cancer‐associated mortality is also high. In The Gambia, cumulative incidence rate of 27.6 childhood cancers/million population was reported between 2002 and 2011. The current study appraised newly‐established pediatric oncological services in The Gambia. Methods: In this prospective registry study, children with cancer who presented at the pediatric units, Edward Francis Small Teaching Hospital, Banjul, between November 2022 and October 2023 were assessed. Data on sociodemographic variables, mode of admission and presentation, tumor type, diagnostic methods, and challenges such as laboratory support, treatment, use of blood/blood products; and eventual outcome were analyzed. Results: The median (interquartile range, IQR) age at presentation of the 44 children was 36.0 (22.3–117.0) months. Wilms tumor was the most common tumor 12 (27.3%); followed by leukemia 11 (25.0%); germ cell tumor 8 (18.2%); lymphoma 6 (13.6%); retinoblastoma 4 (9.1%); rhabdomyosarcoma 2 (4.5%) and one central nervous system tumor (2.3%). The median(IQR) duration of symptoms before presentation was 48 (21–90) days, presentation to diagnosis 7.5 (3–20.8) days, and first symptom to diagnosis 62.5 (32–126.8) days. Treatment refusal and abandonment rates were 20.5% and 13.6%, respectively. Families of 93.8% of children could not procure cytotoxic drugs due to nonavailability, high cost, or both. Adequate laboratory monitoring was only available in 6.8%, and none had platelet concentrate transfusion or radiotherapy. The nine (20.5%) who completed treatment are currently being followed up, 10(22.7%) are still receiving chemotherapy, while 2(4.5%) were referred. Eight (18.2%) died, predominantly from metastasis (75%) and severe drug toxicities (25%). Conclusion: Late presentation and diagnosis, poverty, unavailability of drugs, suboptimal or lack of laboratory testing, blood product, adjuvant medications, and psychosocial supports contributed to high treatment refusal, abandonment, and mortality. These daunting challenges can be ameliorated with regular community sensitization, frequent cancer auditing, and strong political will. [ABSTRACT FROM AUTHOR]

Purpose: The present study aims to bring out the impact of consanguinity on spontaneous pregnancy loss (SPL) and on descendants' health, among the population of north Morocco. Design/methodology/approach: Convenience sampling was used for collecting data. A questionnaire was randomly administered to 385 couples represented by either the husband, the wife or both. The study lasted for three months, from January to March 2015. Findings: In total, 238 valid questionnaires were analysed. The results showed that the consanguinity rate was 45.23% and that most consanguineous unions were between first cousins (91%). Data analysis revealed that SPL risk was similar in consanguineous and non-consanguineous couples (OR = 1.6; IC95% = 0.9–2.9). Also, no significant difference was observed in terms of SPL type (OR = 1.6; IC95% = 0.7–3.9) and frequency (p = 0.81). However, late SPL frequency was significantly lower in consanguineous couples (p < 0.001), whereas no significant difference was registered in terms of early SPL frequency (p = 0.73). On the other hand, consanguineous couples displayed a significantly higher risk of descendants' health disorders in comparison with non-consanguineous ones. Moreover, the consanguineous couples had a significantly higher number of children with health disorders (p < 0.001). The risk analysis also showed that consanguineous couples displayed a significantly higher risk of congenital malformations (OR = 7.23; IC95% = 3.52–14.84) and multifactorial diseases (OR = 3.72; IC95% = 1.46–9.49), but no significant difference was observed in terms of behavioural disorders risk. Originality/value: The population awareness regarding the negative effects of consanguinity should be raised through education programmes and premarital, prenatal and genetic counselling services. [ABSTRACT FROM AUTHOR]

Background: Approximately 25% of all recognized pregnancies result in foetal loss. Women who will experience two consecutive foetal loss is less than 5%, while loss of three or more consecutive pregnancies in the first trimester, termed as Recurrent foetal loss (RFL), occurs in 1% of all pregnancies. RFL is often associated with cousin marriages. Keeping in view the social and psychological burden associated with RFL, it deems necessary to conduct further studies, to clear this ambiguity about the adverse effect of consanguinity on the foetal loss. The study was done with the objective to ascertain association of consanguinity with recurrent foetal loss. Methods: A total of 432 individual were recruited in this case control study (216 each in case and control groups) and was conducted at the Armed Forces Institute of Pathology (AFIP) Rawalpindi. The Cases consist of women having recurrent foetal loss while controls were women who do not experience recurrent foetal loss. Results: The Cases had mean parity level of 5.13 while controls 4.02. The difference in parity level of both cases and controls was statistically significant. The mean live births for all the participants were 2.35±1.915 ranging from 0-7. The cases had 0.72 mean live births while controls had 3.98 mean live births. The cases and controls were compared for consanguinity, i.e., if they had a blood relationship with their husbands. 67 (31.01%) of the cases had consanguinity while 62 (28.70%) of the controls had consanguinity. There was no statistically significant difference among cases and controls in terms of consanguinity. Conclusion: Although our study does not show any significant harmful effect of consanguinity on foetal outcome, however more in-depth research is required to look for genetic loci which are contributing to the causation of RFL, especially those inherited recessively, since homozygosity is increased in consanguinity. [ABSTRACT FROM AUTHOR]

Neutropenia refers to a decrease in the absolute neutrophil count according to age and race norms and poses a common concern in pediatric practice. Neutrophils serve as host defenders and act crucially in acute inflammation procedures. In this narrative review, we systematically present causes of neutropenia in childhood, mainly adopting the pathophysiological classification of Frater, thereby studying (1) neutropenia with reduced bone marrow reserve, (2) secondary neutropenia with reduced bone marrow reserve, and (3) neutropenia with normal bone marrow reserve. Different conditions in each category are thoroughly discussed and practically approached from the clinician's point of view. Secondary mild to moderate neutropenia is usually benign due to childhood viral infections and is expected to resolve in 2–4 weeks. Bacterial and fungal agents are also associated with transient neutropenia, although fever with severe neutropenia constitutes a medical emergency. Drug-induced and immune neutropenias should be suspected following a careful history and a detailed clinical examination. Cytotoxic chemotherapies treating malignancies are responsible for severe neutropenia and neutropenic shock. Rare genetic neutropenias usually manifest with major infections early in life. Our review of taxonomies clinical findings and associates them to specific neutropenia disorders. We consequently propose a practical diagnostic algorithm for managing neutropenic children. [ABSTRACT FROM AUTHOR]

The mutation HBA2:c.*94A>G (AATAAA>AATAAG; rs63751269) is a 3′-UTR (3 prime untranslated region) single-nucleotide substitution in the polyadenylation (PA) signal of HBA2 (αPA:A→G). This pathogenic (CADD score, 14.92) variant is sporadic in the Arabian Peninsula. It results in inefficient mRNA processing, transcription termination, and possibly using an alternate cryptic downstream polyadenylation signal. As a result, the allele αT (or αT-Saudi) poses challenges in premarital counseling with respect to fetal risk of hemoglobin H disease. Homozygous HBA2:c.*94A>G (αTα/αTα) results in moderate-to-severe microcytosis (mean red cell volume, MCV, 55 to 65 fL), reflecting markedly impaired hemoglobin synthesis (hemoglobin H disease). Homozygous rightward −α3.7 (a 3804-neocleotide deletion allele, NM_000517.4:c.[-2_-3delAC; −α3.7]), on the other hand, results in mild microcytosis (MCV, 70 to 75 fL, alpha-thalassemia trait). Thus, HBA2:c.*94A>G is more damaging than −α3.7. Consistently, the value of MCV in compound heterozygosity, HBA2:c.*94A>G and −α3.7, is 65 to 70 fL. We report here a healthy couple who presented for premarital counseling on their hemoglobinopathy. The man has homozygous HBA2:c.*94A>G (αTα/αTα), and the woman has compound heterozygous (−α3.7/αTα, also annotated as: −3.7α/αTα). As a result, the genotype of their offspring would be that of the father (αTα/αTα) or the mother (−α3.7/αTα). The counseling was mainly based on the benign phenotypes of the parents. As both were asymptomatic and their anemia was clinically insignificant, they proceeded with the marriage. [ABSTRACT FROM AUTHOR]

A smart home energy management system plays an important role in improving the efficiency of an energy distribution system and also helps to reduce the carbon footprint of the power utility company. For a developing country like India, one of the main challenges faced while integrating an energy management system and renewable energy technology is the migration cost faced by the user from the existing system. The existing energy policy of the nation or the community should be reformed in such a way that the user who is willing to adapt to an energy management system should be properly rewarded. Smart appliances and IoT-enabled devices reduce wiring complexity in any conventional home and the smart metering facility aids in the bidirectional communication between consumers and utility companies. But how does it take care of user privacy? What are the reasons behind the user's negligence on-demand response schemes in India? Through a case study, it was observed that the power consumption of domestic consumers in India increased over the years. It was also observed through an energy survey of 200 low-tension domestic consumers that a simple reengineering of lighting loads can save up to 4.68 Megawatt-hour of energy in a year. The paper also identified the negative impact of the inclining block rate billing scheme by comparing the bimonthly energy consumption pattern of consumers and also proposed a new billing scheme. The paper also reviews the types of optimization methods available for load scheduling. This paper is an attempt to enlighten readers on the importance of adopting a sustainable home energy management system, as a socio-economic commitment towards a green future. Highlights: The connected loads in Indian homes are increasing day by day and so the electricity bill A smart green HEM system helps to reduce the carbon footprint Novel demand response programs policies should be formulated Harvesting renewable energy will have multiple applications in a home Dimming lighting loads considerably reduces usage cost [ABSTRACT FROM AUTHOR]

Objective: To assess the prevalence of chronic neutropenia (CN) and the clinical profile of patients with CN aged up to 18 years, followed in the pediatric hematology, rheumatology, or immunology outpatient clinic of a tertiary medical center from May 1, 2018, to 30 April 2019. Methods: Retrospective observational study carried out by collecting data from the patient's medical charts. CN was defined as absolute neutrophil count (ANC) below 1.5 £ 109/L lasting over three months. Autoimmune neutropenia (AIN) was defined by clinical criteria and an over twofold increase in ANC after glucocorticoid stimulation. AIN was considered secondary when associated with autoimmune or immunoregulatory disorders. Wilcoxon and Fisher's exact tests were used to compare variables; the significance level was 5 %. Results: A total of 1,039 patients were evaluated; 217 (20 %) presented CN. Twenty-one (2 %) had AIN, classified as primary in 57 % of the cases. The average age at the onset of symptoms was 38.6 months. During follow-up, patients had 4.2 infections on average; frequency was higher among patients with secondary AIN (p = 003). Isolated neutropenia occurred in 43 % of the patients with AIN. Neutropenia resolved in eight (38 %) of the 21 patients with AIN within 19.6 months on average. Eight patients with secondary AIN met the criteria for Inborn Errors of Immunity. Conclusion: AIN prevalence was 2 %. Most cases were first evaluated by a pediatric immunologist or rheumatologist rather than a pediatric hematologist. This study highlights the need for a multidisciplinary approach involving a pediatric immunologist, rheumatologist, and hematologist. [ABSTRACT FROM AUTHOR]

Background: ACKR1/DARC-associated neutropenia (ADAN), resulting from homozygosity for a single nucleotide polymorphism (SNP) in the ACKR1/DARC gene (rs2814778), is a common cause of benign neutropenia that primarily affects individuals of African and Jewish Yemenite descent. We aimed to characterize ADAN in pediatric patients in Israel, given its ethnically diverse population., Procedure: We assessed children with isolated neutropenia treated during 2018-2023 at one pediatric center, for the ACKR1/DARC polymorphism, using Sanger sequencing or targeted next-generation sequencing., Results: Of 115 patients evaluated, 49 (42.6%) were diagnosed with ADAN; of these, 29 (59%) had absolute neutrophil counts in the severe range (0-0.5 × 10 9 /L) at diagnosis. The allele distribution revealed 37% of Muslim Arab and 61% of Jewish origin. Yemenite, Ethiopian, Mediterranean, Asian, and European ancestry were included; 59% had a family history of neutropenia. The median age at the first neutropenia detection was 1.2 years; 91.8% were identified during routine blood counts. The median absolute neutrophil count at diagnosis was 0.5 × 10 9 /L (interquartile range: 0.3). An increased susceptibility to infections was not found either before or during the median follow-up period of 2.5 years (interquartile range: 1.54) after the diagnosis of ADAN. In 34 patients (72.3%), neutrophil counts were in the normal range during febrile illnesses., Conclusions: We identified ADAN in individuals of variable ethnicities, almost half with severe neutropenia. We recommend testing for ADAN in all children with isolated neutropenia without severe infections. Homozygosity for the ACKR1/DARC rs2814778 SNP may obviate the need for further investigation, follow-up, or treatment in specific clinical scenarios., (© 2024 The Author(s). Pediatric Blood & Cancer published by Wiley Periodicals LLC.)

Style penetration by pollen tubes is essential for reproductive success, a process requiring canonical Rab5s in Arabidopsis. However, functional loss of Arabidopsis Vps9a, the gene encoding for guanine nucleotide exchange factor (GEF) of Rab5s, did not affect male transmission, implying the presence of a compensation program or redundancy. By combining genetic, cytological, and molecular approaches, we report that Arabidopsis Vps9b is a pollen-preferential gene, redundantly mediating pollen tube penetration of style with Vps9a. Vps9b is functionally interchangeable with Vps9a, whose functional distinction results from distinct expression profiles. Functional loss of Vps9a and Vps9b results in the mis-targeting of Rab5-dependent tonoplast proteins, defective vacuolar biogenesis, disturbed distribution of post-Golgi vesicles, increased cellular turgor, cytosolic acidification, and disrupted organization of actin microfilaments (MF) in pollen tubes, which collectively lead to the failure of pollen tubes to grow through style., (© 2024 The Author(s). New Phytologist © 2024 New Phytologist Foundation.)

In the dictator game, the evidence that giving is equivalent to taking is mixed. The purpose of this study was to investigate framing effects (giving/taking) on social-discounting rates among young African adults from an informal settlement in South Africa. Employing a within-participant design, these young adults completed a series of incentivized dictator games with an isomorphically equivalent giving and taking frame at each of eight social distances. Altruism was measured by the social-discounting rate, and framing effects were assessed using generalized linear regression. The study provides empirical evidence that prosocial behavior among young South African adults is subject to framing because exponential, hyperbolic, and q-exponential social-discounting rates in all instances were lower in the taking than in the giving frame. This difference may be the result of greater "egalitarianism" and "selflessness" elicited by the taking frame, which likely is a product of the experiment's particular social and economic field context. More comparative research is required to establish the working of specific mechanics of morality that may operate differently in diverse socioeconomic contexts, thus contributing to elucidating the heterogeneous nature of findings in this area of study., (© 2024 The Author(s). Journal of the Experimental Analysis of Behavior published by Wiley Periodicals LLC on behalf of Society for the Experimental Analysis of Behavior.)

Severe fever with thrombocytopenia syndrome (SFTS) virus, recently named Bandavirus dabieense, belongs to the genus Bandavirus of family Phenuiviridae, and it causes SFTS in humans with clinical symptoms including fever, thrombocytopenia, gastrointestinal symptoms, and leukocytopenia. However, there are few reports on the pathogenesis of SFTSV in animals. This study first isolated the SFTSV strain SD22-2 from sick-farmed mink. Viral metagenomics was used to detect SFTSV nucleotide in the clinical specimens obtained from symptomatic minks. Then, we isolated the virus using Vero and DH82 cells, and Real-Time Quantitative PCR (RT-qPCR), indirect immunofluorescence assay, transmission electron microscopy, and Western blotting identified it. Meanwhile, phylogenetic analysis based on partial L, M, and S segment sequences indicated that the mink-origin SFTSV strain SD22-2 belonged to genotype D and was genetically close to the HB2016-003 strain isolated from humans. Taken together, we isolated and identified an SFTSV from farmed mink that may be the reservoir hosts of SFTSV. We should pay more attention to farmed minks and biosecurity practices, and active surveillance at fur farms must be reviewed and enhanced. [ABSTRACT FROM AUTHOR]

Introduction: In Nigeria, breast cancer (BC), a disorder marked by the unchecked growth of breast cells, has been the commonest cancer among women in Nigeria. Breast self-examination (BSE) is one of the suggested methods for screening for the early diagnosis of breast cancer. However, studies have reported inadequate knowledge, negative attitudes and poor practices of BSE among undergraduate female students. The study was designed as an interventional study to examine the effect of educational intervention on knowledge, attitude and practice of breast self-examination among female students in a private university in southern Nigeria. Methods: This pretest posttest design study was carried out on 103 students of Novena University at baseline in 2022, which were chosen through the use of simple random sampling. A validated questionnaire with components on demographics, knowledge, attitude, and BSE practice was used to gather the data. After that, the students participated in three hourly sessions of an educational intervention for two weeks. A month later, the students' data were once again collected, and SPSS 20 software was used to evaluate the results using the mean, paired t test, and logistic regression at the P < 0.05 level of significance. Results: The mean age of the respondents was 22.37 ± 1.92 years. Only 53 (51.3%) were aware of BSE. The mean knowledge, attitude and practice of BSE at pretest significantly increased at posttest after the educational intervention (1.58 ± 1.48 vs. 4.31 ± 1.15, 2.37 ± 1.27 vs. 4.80 ± 0.49 and 1.97 ± 0.09 vs. 5.81 ± 3.26, respectively). Furthermore, age and family history of BC were predictors of knowledge (OR = 4.00 95% CI = 0.29–41.99, OR = 141, 95% CI = 0.15–13.18), attitude (OR = 2.39, 95% CI = 0.28–12.32, OR = 1.15, 95% CI = 0.24–8.34) and practice of BSE (OR = 2.66, 95% CI = 0.38–18.41, OR = 1.44, 95% CI = 0.24–8.34) respectively. Conclusion: The findings showed that using an educational intervention strategy will improve the knowledge, attitude and practice of BSE among undergraduate students. [ABSTRACT FROM AUTHOR]

Background: 'Benign ethnic neutropenia' (BEN) is a heritable condition characterized by lower neutrophil counts, predominantly observed in individuals of African ancestry, and the genetic basis of BEN remains a subject of extensive research. In this study, we aimed to dissect the genetic architecture underlying neutrophil count variation through a linear-mixed model genome-wide association study (GWAS) in a population of African ancestry (N = 5976). Malaria caused by P. falciparum imposes a tremendous public health burden on people living in sub-Saharan Africa. Individuals living in malaria endemic regions often have a reduced circulating neutrophil count due to BEN, raising the possibility that reduced neutrophil counts modulate severity of malaria in susceptible populations. As a follow-up, we tested this hypothesis by conducting a Mendelian randomization (MR) analysis of neutrophil counts on severe malaria (MalariaGEN, N = 17,056). Results: We carried out a GWAS of neutrophil count in individuals associated to an African continental ancestry group within UK Biobank, identifying 73 loci (r2 = 0.1) and 10 index SNPs (GCTA-COJO loci) associated with neutrophil count, including previously unknown rare loci regulating neutrophil count in a non-European population. BOLT-LMM was reliable when conducted in a non-European population, and additional covariates added to the model did not largely alter the results of the top loci or index SNPs. The two-sample bi-directional MR analysis between neutrophil count and severe malaria showed the greatest evidence for an effect between neutrophil count and severe anaemia, although the confidence intervals crossed the null. Conclusion: Our GWAS of neutrophil count revealed unique loci present in individuals of African ancestry. We note that a small sample-size reduced our power to identify variants with low allele frequencies and/or low effect sizes in our GWAS. Our work highlights the need for conducting large-scale biobank studies in Africa and for further exploring the link between neutrophils and severe malaria. [ABSTRACT FROM AUTHOR]

In 1954, Allison proposed that hemoglobin S (HbS) gene causes protection against fatal malaria. This would explain the high HbS gene frequency observed in certain regions hyperendemic for malaria, so-called "malaria hypothesis". This in silico study was conducted to examine the feasibility of the hypothesis under more realistic initial conditions, where a mutant gene with heterozygous advantage against malaria (e.g., HbS) was introduced in a group of Neolithic hunter-gatherers who decided to start agriculture nearby water where malaria killed a proportion of population. The tribe population size, number of children born to each woman in each generation, mortality from malaria and sickle cell disease, the protection factor provided by the gene carriers against malaria, the probability of mating between the members of the parent and offspring populations, population growth, and increased fertility in women heterozygous for HbS, were also considered. For effectively confer protection against malaria within the shortest possible period, the mutation needs to be happened in a small population. For a large population, the process would take around 100 generations (~ 2500 years) or more to provide an effective protection. Even then, the probability that the new gene could survive and propagate to future generations is about 35%. Conventional population genetics equations with differential or difference equations, give totally incorrect estimates of the gene frequency in small populations; discrete mathematics should be used, instead. After introduction of the advantageous mutation, the gene frequency increased until a steady state value. This value is far less than the gene frequency reported in certain tribes of Africa. It seems that the malaria hypothesis, per se, could not explain such a high observed gene frequency, unless HbS is associated with lower mortality from other causes too. [ABSTRACT FROM AUTHOR]

As network technology continues to develop, the popularity of various intelligent terminals has accelerated, leading to a rapid growth in the scale of wireless network traffic. This growth has resulted in significant pressure on resource consumption and network security maintenance. The objective of this paper is to enhance the prediction accuracy of cellular network traffic in order to provide reliable support for the subsequent base station sleep control or the identification of malicious traffic. To achieve this target, a cellular network traffic prediction method based on multi-modal data feature fusion is proposed. Firstly, an attributed K-nearest node (KNN) graph is constructed based on the similarity of data features, and the fused high-dimensional features are incorporated into the graph to provide more information for the model. Subsequently, a dual branch spatio-temporal graph neural network with an attention mechanism (DBSTGNN-Att) is designed for cellular network traffic prediction. Extensive experiments conducted on real-world datasets demonstrate that the proposed method outperforms baseline models, such as temporal graph convolutional networks (T-GCNs) and spatial–temporal self-attention graph convolutional networks (STA-GCNs) with lower mean absolute error (MAE) values of 6.94% and 2.11%, respectively. Additionally, the ablation experimental results show that the MAE of multi-modal feature fusion using the attributed KNN graph is 8.54% lower compared to that of the traditional undirected graphs. [ABSTRACT FROM AUTHOR]

Competition among pollen or sperm (gametic selection) can cause evolution. Mating systems shape the intensity of gametic selection by determining the competitors involved, which can in turn cause the mating system itself to evolve. We model the bidirectional relationship between gametic selection and mating systems, focusing on variation in female mating frequency (monandry-polyandry) and self-fertilisation (selfing-outcrossing). First, we find that monandry and selfing both reduce the efficiency of gametic selection in removing deleterious alleles. This means that selfing can increase mutation load, in contrast to cases without gametic selection where selfing purges deleterious mutations and decreases mutation load. Second, we explore how mating systems evolve via their effect on gametic selection. By manipulating gametic selection, polyandry can evolve to increase the fitness of the offspring produced. However, this indirect advantage of post-copulatory sexual selection is weak and is likely to be overwhelmed by any direct fitness effects of mating systems. Nevertheless, gametic selection can be potentially decisive for selfing evolution because it significantly reduces inbreeding depression, which favours selfing. Thus, the presence of gametic selection could be a key factor driving selfing evolution. Author summary: Animals and plants often produce millions of sperm or pollen, of which only a tiny fraction succeed. This means sperm and pollen harbour a lot of evolutionary potential, even though they are generally small and hidden from view. We used mathematical models to understand the evolution of genes that influence the fertilisation success rate of sperm or pollen. A crucial issue is the number of different males who donate sperm or pollen, which is called the mating system. We can predict how genes will evolve with different mating systems. These predictions can then be tested by looking at DNA sequences from genes that are active in sperm or pollen in species with different mating systems. This process allows us to check our understanding of evolution. Secondly, we looked at the evolution of the mating behaviour itself. By changing their mating behaviour, animals and plants can manipulate natural selection on sperm or pollen, thereby evolving to change the way evolution operates. This helps to answer a bigger evolutionary question: why do organisms evolve differences in the way they respond to natural selection? [ABSTRACT FROM AUTHOR]

Anemia is a severe global public health issue. Testing practices for anemia suggest overuse of screening laboratory tests and misinterpretation of studies even in "easy-to-diagnose" underlying causes, leading to late diagnoses and missed treatment opportunities. We aimed to develop a complete and efficient algorithm for clinical pathologists and laboratory medicine physicians for the differential diagnosis of anemia. Comprehensive literature search encompassing original articles, studies, reviews, gold standard books, and other evidence. We created a complex algorithm, primarily for clinical pathology/laboratory use, that explores all major and several rare causes of anemia in an efficient and evidence-based manner. The algorithm includes gold-standard diagnostic laboratory tests available in most clinical laboratories and indices that can be easily calculated to provide an evidence-based differential diagnosis of anemia. The diagnostic strategy combines previously available diagnostic tests and protocols in an efficient order. Clinical pathologists following the algorithm can independently provide valuable diagnostic support for healthcare providers. Clinical pathologists providing complete differential diagnostic services with the proposed algorithm may create an opportunity for an advanced diagnostic service that supports diagnostic excellence and helps patients receive a timely diagnosis and early treatment opportunities. [ABSTRACT FROM AUTHOR]

Thalassemia is humanity's most common genetic disorder and represents a serious healthcare challenge in the United Arab Emirates. Increasing awareness is a crucial part of any successful strategy to prevent thalassemia. This research examined knowledge levels and attitudes regarding thalassemia screening, counseling, and monitoring from medical and nonmedical students at Ajman University. This was a cross-sectional, descriptive study conducted among a convenience sample of Ajman university students in the UAE. A questionnaire was distributed which was composed of three main sections. The first section covered participants' demographic data. The second section covered general knowledge of thalassemia and its screening measures. The third section assessed risk factors, regulations, and preventive measures. The data were analyzed using the statistical package for social sciences (SPSS) version 24. A total of 523 participants completed the whole survey. Generally, there was a good level of awareness of thalassemia and thalassemia screening among participants. Approximately three-quarters of participants (76.5%) agreed that thalassemia screening should be compulsory for the individual and the majority of students and 92.7% recognized the importance of thalassemia screening for both partners. Approximately three-quarters (75.9%) of participants disagreed that fetuses with thalassemia should be aborted. More than half of the participants disagreed that thalassemia carriers and patients should be prevented from marrying each other. Generally, older respondents (final year students), respondents who had dealt with thalassemia patients, and respondents with relatives with thalassemia had more comprehensive knowledge of thalassemia. Campaigns focusing on college and university students should be regarded as an essential element of the thalassemia prevention strategy for contemporary UAE society., (© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Various abnormal hemoglobin structures of human blood are widely prevalent among some populations of Upper Assam. Over the years, various researches have been conducted by different researchers from varied perspectives. Many theories have been put forward as to the origin and spread of the mutation which led to the occurrence of abnormal hemoglobin in the Austro-Asiatic population of South East Asia and the Tibeto-Burman population of North- East India. Hypotheses stating its relation to malarial selection, inbreeding and fertility have also been ascertained. However, these studies have, time and again, reflected mixed results, as a holistic study on this topic is required. A systematic review of literature on platforms such as NCBI-MeSH, PubMed, Google Scholar, Scirus, etc., was done for the time period between 1950 to 2022. This study attempts to review all the researches done so far in North-East India vis-à-vis abnormal hemoglobin structure to trace the origin and prevalence of these hemoglobin types and unearth the gaps in the existing literature. [ABSTRACT FROM AUTHOR]

Background: It is crucial for medical personnel to be aware of cancer symptoms and engage in appropriate screening practices. This study aimed to investigate the knowledge of Iranian healthcare staff regarding cancer warning symptoms, their attitudes towards cancer risk factors, and their willingness to undertake cancer screening tests. Method: This cross-sectional study involved administering validated questionnaires to 145 medical staff. In addition to descriptive statistics, independent sample t-test and Analysis of Variance (ANOVA) were utilized to compare knowledge, attitudes, and performance of cancer screening tests. Pearson's correlation coefficient was used to determine the relationship between demographic and occupational variables and participants' knowledge and attitudes regarding cancer risk factors and screening practices. Results: The mean knowledge and attitude scores were 7.97 ± 2.01 and 35.41 ± 4.69, respectively. Among the 125 female participants aged 25-57 years, only 44% performed monthly breast self-examinations, 22.1% sought specialist physicians for breast cancer screening, and only 20.51% of female participants over the age of 40 underwent mammography. Regarding cervical cancer screening, 27.2% had undergone annual Pap smear tests, and 17.6% referred to a specialist for annual pelvic examinations. Among staff older than 45 years (24 participants), only one had undertaken an occult blood test and colonoscopy for colorectal cancer screening. Conclusion: Although most healthcare workers demonstrated awareness of cancer warning signs, they did not engage in regular preventive screening practices. Regular educational programs should be implemented to encourage healthcare personnel to perform routine cancer screening. [ABSTRACT FROM AUTHOR]

Background: Severe fever with thrombocytopenia syndrome (SFTS) is an emerging infectious disease discovered in China in 2009. The purpose of this study was to describe the spatiotemporal distribution of SFTS and to identify its environmental influencing factors and potential high-risk areas in Shandong Province, China. Methods: Data on the SFTS incidence from 2010 to 2021 were collected. Spatiotemporal scan statistics were used to identify the time and area of SFTS clustering. The maximum entropy (MaxEnt) model was used to analyse environmental influences and predict high-risk areas. Results: From 2010 to 2021, a total of 5705 cases of SFTS were reported in Shandong. The number of SFTS cases increased yearly, with a peak incidence from April to October each year. Spatiotemporal scan statistics showed the existence of one most likely cluster and two secondary likely clusters in Shandong. The most likely cluster was in the eastern region, from May to October 2021. The first secondary cluster was in the central region, from May to October 2021. The second secondary cluster was in the southeastern region, from May to September 2020. The MaxEnt model showed that the mean annual wind speed, NDVI, cattle density and annual cumulative precipitation were the key factors influencing the occurrence of SFTS. The predicted risk map showed that the area of high prevalence was 28,120 km2, accounting for 18.05% of the total area of the province. Conclusions: The spatiotemporal distribution of SFTS was heterogeneous and influenced by multidimensional environmental factors. This should be considered as a basis for delineating SFTS risk areas and developing SFTS prevention and control measures. [ABSTRACT FROM AUTHOR]

Background: Low hemoglobin (Hb) level is a leading cause of many adverse pregnancy outcomes. Patterns of changes in Hb levels during pregnancy are not well understood. Aim: This study estimated Hb levels, described its changing patterns across gestational trimesters, and identified factors associated with these changes among pregnant women. Materials and methods: Data from the ongoing maternal and child health cohort study–The Mutaba'ah Study, was used (N = 1,120). KML machine learning algorithm was applied to identify three distinct cluster trajectories of Hb levels between the first and the third trimesters. Descriptive statistics were used to profile the study participants. Multinomial multivariable logistic regression was employed to identify factors associated with change patterns in Hb levels. Results: The three identified clusters–A, B and C–had, respectively, median Hb levels (g/L) of 123, 118, and 104 in the first trimester and 119, 100, and 108 in the third trimester. Cluster 'A' maintained average normal Hb levels in both trimesters. Cluster 'B', on average, experienced a decrease in Hb levels below the normal range during the third trimester. Cluster 'C' showed increased Hb levels in the third trimester but remained, on average, below the normal range in both trimesters. Pregnant women with higher gravida, diabetes mellitus (type 1 or 2), nulliparity or lower level of education were more likely to be in cluster 'B' than the normal cluster 'A'. Pregnant women who reported using iron supplements before pregnancy or those with low levels of education. were more likely to be in cluster 'C' than the normal cluster 'A'. Conclusion: The majority of pregnant women experienced low Hb levels during pregnancy. Changes in Hb levels during pregnancy were associated with parity, gravida, use of iron before pregnancy, and the presence of diabetes mellitus (type 1 or 2). [ABSTRACT FROM AUTHOR]

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Introduction: Genome sequencing has utility, however, it may reveal secondary findings. While Western bioethicists have been occupied with managing secondary findings, specialists' attention in the Arabic countries has not yet been captured. We aim to explore the attitude of the United Arab Emirates (UAE) population toward secondary findings. Method: We conducted a cross-sectional study between July and December 2022. The validated questionnaire was administered in English. The questionnaire consists of six sections addressing topics such as demographics, reactions to hypothetical genetic test results, disclosure of mutations to family members, willingness to seek genetic testing, and attitudes toward consanguinity. Chi-squared and Fisher's exact tests were used to investigate associations between categorical variables. Results: We had 343 participants of which the majority were female (67%). About four-fifths (82%) were willing to know the secondary findings, whether the condition has treatment or not. The most likely action to take among the participants was to know the secondary findings, so they can make life choices (61%). Conclusion: These results can construct the framework of the bioethics of disclosing secondary findings in the Arab regions. [ABSTRACT FROM AUTHOR]

Background/Aim: Consanguinity represents a biological relationship between two individuals. In clinical genetics, it specifically refers to the marriage between individuals who are second cousins or closer. The aim of the study is to assess perceptions and their predictors among the Palestinian population towards consanguinity.Methods: A survey-based cross-sectional study was conducted. The sample was collected using convenience and snowball sampling methods, yielding a sample of 1008 participants. The perceptions towards consanguinity and its predictors were assessed using Chi-square test.Results: The prevalence of consanguinity among married participants was 18.7% (N = 81/432), while it was 28.8% among their parents. Consanguinity rate was significantly low among the young age group (ie, < 47 years old) and among participants whose mothers have undergraduate educational levels (P < 0.05). Other factors like parental consanguinity, educational level of participants, their father's educational level, and residency place showed no significant associations (P > 0.05). Rejection of consanguinity was significantly noted among young age participants, absence of parental consanguinity, the presence of children or family members with genetic disorders and female gender (P < 0.001). Furthermore, participants who indicated that they are governmental employees, those with 2000– 5000 ILS monthly income, those who are married (P < 0.01), and those who indicated that their mothers are holders of postgraduate degree were significantly more likely to reject the idea of consanguinity (P < 0.05). Also, medical and/or scientific reasons were significantly associated with rejecting the idea of consanguinity (P < 0.001).Conclusion: Consanguinity prevalence has decreased among recent generations in Palestine, but it remains a significant challenge in Palestine. Therefore, educational and awareness programs about consanguinity and its health effects are effective strategies for reducing the consanguinity rate, especially for persons who are at the age of marriage. [ABSTRACT FROM AUTHOR]

Delaying kidney senescence process will benefit renal physiologic conditions, and prompt the kidney recovering from different pathological states. The renal anti‐senescence effects of sodium‐glucose cotransporter‐2 inhibitors (SGLT2i) and metformin have been proven in diabetic settings, but the roles of each one and combination of two drugs in natural kidney aging process remain undefined and deserve further research. Senescence‐accelerated mouse prone 8 (SAMP8) were orally administered dapagliflozin, metformin, and a combination of them for 16 weeks. Dapagliflozin exhibits better effects than metformin in lowering senescence related markers, and the combination therapy shows the best results. In vitro experiments demonstrate the same results that the combination of dapagliflozin and metformin can exert a better anti‐senescence effect. Blood metabolites detection in vivo shows dapagliflozin mainly leads to the change of blood metabolites enriched in choline metabolism, and metformin tends to induce change of blood metabolites enriched in purine metabolism. In conclusion, the results suggest dapagliflozin may have a better renal anti‐senescence effect than metformin in non‐diabetes environment, and the combination of the two drugs can strengthen the effect. The two drugs can lead to different blood metabolites alteration, which may lead to different systemic effects. [ABSTRACT FROM AUTHOR]

. This paper develops the notion of fuzzy ideal and generalized fuzzy ideal on double Boolean algebra (dBa). According to Rudolf Wille, a double Boolean algebra Ḏ := (D,∏, ...,...; ...;⊥,...) is an algebra of type (2; 2; 1; 1; 0; 0); which satisfies a set of properties. This algebraic structure aimed to capture the equational theory of the algebra of protoconcepts. We show that collections of fuzzy ideals and generalized fuzzy ideals are endowed with lattice structures. We further prove that (by isomorphism) lattice structures obtained from fuzzy ideals and generalized fuzzy ideals of a double Boolean algebra D can entirely be determined by sets of fuzzy ideals and generalized fuzzy ideals of the Boolean algebra D... [ABSTRACT FROM AUTHOR]

Background: Severe fever with thrombocytopenia syndrome (SFTS) is a common tick-borne, natural focal disease. SFTS virus (SFTSV) transmission can occur between family members through close contact with an infected patient. In this study, we explored the possible transmission route of an outbreak cluster in east China. Method: A case-control study was carried out to analyze the potential risk factors for person-to-person transmission. Bunia virus was detected by IgM antibody, enzyme-linked immunosorbent assay, and reverse transcription polymerase chain reaction. Chi-square, univariate, and multivariate analyses were performed to calculate the association of possible risk factors for SFTSV transmission. Results: Two patients had a clear history of blood and aerosols contact, and one may be exposed to aerosols in a closed environment. Five close contacts of the Index patient were IgM-positive and three were IgM and SFTSV RNA positive. Exposure to a poorly ventilated space where the corpse was stored (χ2 = 5.49, P = 0.019) and contact with the Index patient's contaminated items (χ2 = 15.77, P < 0.001) significantly associated with SFTSV infection. Conclusion: We suspect that the cluster outbreak was possibly a person-to-person transmission of SFTSV, which may have been transmitted by directly contacting with blood of SFTS patient. The propagation of aerosols in closed environments is also an undeniable transmission. [ABSTRACT FROM AUTHOR]

Acute leukemia commonly occurs in young children with peak incidence at the age of 2–5 years. However, the etiology is still unclear and many preventable risk factors still deserve to be reviewed. The focus of this systematic review and meta-analysis is to summarize the evidence concerning early life nourishment (breastfeeding, early life diet), neonatal vitamin K administration and the risk of acute leukemia. All epidemiological studies published up to June 2023 and assessing diet-related risk factors for childhood acute leukemia were identified in two electronic databases (PubMed and Web of Science), with no limits on publication year or language. A total of 38 studies (37 case–control studies and 1 study with pooled analysis) were included. The published risk estimates were combined into a meta-analysis using the Generic Inverse Variance method. The current evidence shows that breastfeeding (yes vs. no) has a protective effect against acute lymphoblastic leukemia (odds ratio = 0.85; 95% CI, 0.76–0.94). Evidence related to the role of other studied factors (foods and supplements) is inconclusive. Further research into the potential role of diet in early life and the risk of acute leukemia is needed to develop prevention strategies at population level. Review Registration: PROSPERO registration no. CRD42019128937. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the effect of iron deficiency anemia on HbA2 levels. Study Design: Comparative cross-sectional study. Place and Duration of Study: Department of Pathology, Combined Military Hospital, Lahore Pakistan, from Jan to Oct 2020. Methodology: A total of 206 subjects were included in the study out of which 56 served as healthy controls. Five milliliters of whole blood were extracted in an EDTA tube and basic haematological parameters were performed using automated hematology analyzer (Sysmex KX-21). HbA2 levels were determined by cellulose acetate hemoglobin electrophoresis at alkaline pH (Mini Hor-8). Serum Ferritin levels were measured by chemiluminescence on Cobas e411 and Serum Iron levels by spectrophotometric method using ferrozine (Cobas c501). Results: Mean hemoglobin in control group was 12.5±0.7 g/dL and in iron deficiency anemia group was 8.1±1.36 g/dL (p=0.01). Mean HbA2 level in control group was 2.69±0.24% and iron deficiency anemia group was 1.76±0.25 % (p=0.001). HbA2 levels were reduced in individuals having haemoglobin levels less than 10g/dL and remained unchanged/minimally changed with hemoglobin levels reaching near normal levels. Conclusion: There was a statistically significant association of HbA2 levels with degree of anemia and serum ferritin levels (p=0.001). [ABSTRACT FROM AUTHOR]

In the broad scientific field of time series forecasting, the ARIMA models and their variants have been widely applied for half a century now due to their mathematical simplicity and flexibility in application. However, with the recent advances in the development and efficient deployment of artificial intelligence models and techniques, the view is rapidly changing, with a shift towards machine and deep learning approaches becoming apparent, even without a complete evaluation of the superiority of the new approach over the classic statistical algorithms. Our work constitutes an extensive review of the published scientific literature regarding the comparison of ARIMA and machine learning algorithms applied to time series forecasting problems, as well as the combination of these two approaches in hybrid statistical-AI models in a wide variety of data applications (finance, health, weather, utilities, and network traffic prediction). Our review has shown that the AI algorithms display better prediction performance in most applications, with a few notable exceptions analyzed in our Discussion and Conclusions sections, while the hybrid statistical-AI models steadily outperform their individual parts, utilizing the best algorithmic features of both worlds. [ABSTRACT FROM AUTHOR]

Iron deficiency (ID) is common during gestation and in early infancy and can alter developmental trajectories with lasting consequences on cardiovascular health. While the effects of ID and anemia on the mature heart are well documented, comparatively little is known about their effects and mechanisms on offspring cardiac development and function in the neonatal period. Female Sprague-Dawley rats were fed an iron-restricted or iron-replete diet before and during pregnancy. Cardiac function was assessed in a cohort of offspring on postnatal days (PD) 4, 14, and 28 by echocardiography; a separate cohort was euthanized for tissue collection and hearts underwent quantitative shotgun proteomic analysis. ID reduced body weight and increased relative heart weights at all time points assessed, despite recovering from anemia by PD28. Echocardiographic studies revealed unique functional impairments in ID male and female offspring, characterized by greater systolic dysfunction in the former and greater diastolic dysfunction in the latter. Proteomic analysis revealed down-regulation of structural components by ID, as well as enriched cellular responses to stress; in general, these effects were more pronounced in males. ID causes functional changes in the neonatal heart, which may reflect an inadequate or maladaptive compensation to anemia. This identifies systolic and diastolic dysfunction as comorbidities to perinatal ID anemia which may have important implications for both the short- and long-term cardiac health of newborn babies. Furthermore, therapies which improve cardiac output may mitigate the effects of ID on organ development. [ABSTRACT FROM AUTHOR]

Pollen tubes of higher plants grow very rapidly until they reach the ovules to fertilize the female gametes. This growth process is energy demanding, however, the nutrition strategies of pollen are largely unexplored. Here, we studied the function of sucrose transporters and invertases during pollen germination and pollen tube growth. RT-PCR analyses, reporter lines and knockout mutants were used to study gene expression and protein function in pollen. The genome of Arabidopsis thaliana contains eight genes that encode functional sucrose/H+ symporters. Apart from AtSUC2, which is companion cell specific, all other AtSUC genes are expressed in pollen tubes. AtSUC1 is present in developing pollen and seems to be the most important sucrose transporter during the fertilization process. Pollen of an Atsuc1 knockout plant contain less sucrose and have defects in pollen germination and pollen tube growth. The loss of other sucrose carriers affects neither pollen germination nor pollen tube growth. A multiple knockout line Atsuc1Atsuc3Atsuc8Atsuc9 shows a phenotype that is comparable to the Atsuc1 mutant line. Loss of AtSUC1 can't be complemented by AtSUC9, suggesting a special function of AtSUC1. Besides sucrose carriers, pollen tubes also synthesize monosaccharide carriers of the AtSTP family as well as invertases. We could show that AtcwINV2 and AtcwINV4 are expressed in pollen, AtcwINV1 in the transmitting tissue and AtcwINV5 in the funiculi of the ovary. The vacuolar invertase AtVI2 is also expressed in pollen, and a knockout of AtVI2 leads to a severe reduction in pollen germination. Our data indicate that AtSUC1 mediated sucrose accumulation during late stages of pollen development and cleavage of vacuolar sucrose into monosaccharides is important for the process of pollen germination. [ABSTRACT FROM AUTHOR]

Background: The typical hospital Length of Stay (LOS) distribution is known to be right-skewed, to vary considerably across Diagnosis Related Groups (DRGs), and to contain markedly high values, in significant proportions. These very long stays are often considered outliers, and thin-tailed statistical distributions are assumed. However, resource consumption and planning occur at the level of medical specialty departments covering multiple DRGs, and when considered at this decision-making scale, extreme LOS values represent a significant component of the distribution of LOS (the right tail) that determines many of its statistical properties. Objective: To build actionable statistical models of LOS for resource planning at the level of healthcare units. Methods: Through a study of 46, 364 electronic health records over four medical specialty departments (Pediatrics, Obstetrics/Gynecology, Surgery, and Rehabilitation Medicine) in the largest hospital in Thailand (Siriraj Hospital in Bangkok), we show that the distribution of LOS exhibits a tail behavior that is consistent with a subexponential distribution. We analyze some empirical properties of such a distribution that are of relevance to cost and resource planning, notably the concentration of resource consumption among a minority of admissions/patients, an increasing residual LOS, where the longer a patient has been admitted, the longer they would be expected to remain admitted, and a slow convergence of the Law of Large Numbers, making empirical estimates of moments (e.g. mean, variance) unreliable. Results: We propose a novel Beta-Geometric model that shows a good fit with observed data and reproduces these empirical properties of LOS. Finally, we use our findings to make practical recommendations regarding the pricing and management of LOS. [ABSTRACT FROM AUTHOR]

Background: Familial aggregation in childhood leukemia is associated with epidemiological and genomic factors. Albeit epidemiological studies on the familial history of hematological malignancies (FHHMs) are scarce, genomewide studies have identified inherited gene variants associated with leukemia risk. We revisited a dataset of acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML) patients to explore the familial aggregation of malignancies among their relatives. Methods: A series of 5,878 childhood leukemia (=21 years of age) from the EMiLI study (2000-2019) were assessed. Lack of well-documented familial history of cancer (FHC) and 670 cases associated with genetic phenotypic syndromes were excluded. Leukemia subtypes were established according to World Health Organization recommendations. Logistic regression-derived odds ratios (ORs) and 95% confidence intervals (CIs) were performed and adjusted by age as a continuous variable, where ALL was the reference group for AML and conversely. The pedigree of 18 families with excess hematological malignancy was constructed. Results: FHC was identified in 472 of 3,618 eligible cases (13%). Ninety-six of the 472 patients (20.3%) had an occurrence of FHHMs among relatives. Overall, FHC was significantly associated with AML (OR, 1.36; 95% CI, 1.01-1.82; p = 0.040). Regarding the first-degree relatives, the OR, 2.92 95% CI, 1.57-5.42 and the adjOR, 1.16 (1.03-1.30; p0.001) were found for FHC and FHHM, respectively. Conclusion: Our findings confirmed that AML subtypes presented a significant association with hematological malignancies in first-degree relatives. Genomic studies are needed to identify germline mutations that significantly increase the risk of developing myeloid malignancies in Brazil. [ABSTRACT FROM AUTHOR]