Genetics education in primary care residency training: satisfaction and current barriers

Background Genetics education can be integrated into general care medicine through primary care residency programs. A study of primary care residents was done to evaluate quality, satisfaction, and barriers in genetics education in residency training programs. Thus, providing more evidence for the necessity for its development and progress. Methods A cross-sectional descriptive self-administered questionnaire survey was delivered to four primary care West Virginia University (WVU) residency training programs in 2020–2021. The anonymous 14-item survey included the following questionnaire domains: general data, genetics training satisfaction, and genetics education barriers. Results The survey response rate was 52% (70/123) and 59 participants completed the survey. Overall, respondents viewed genetic education as critical to their chosen specialty (90%). Trainees at all educational levels obtained their education mostly from class based educational curricula (77% from lectures, 65% from didactic and 49% from grand rounds). The majority of survey respondents indicated insufficient experience with genetic patient care (34% ward genetic consultation, 5% clinic experience, 0% genetic department rotation). The percentage of residents who were satisfied with genetic topics were as follows: basic genetics (57%), capturing family history (82%), initiating basic genetic workup (15%), a basic understanding of the genetic report (23%), basic management surveillance in the genetic patient (18%), understanding the genetic referral and explaining it to a patient (47%). Residents reported barriers to genetic interest included complexity of the field (87%), followed by limited utility of genetics testing (41%). The most common suggestions for improving the genetic education component were to provide more lectures (61%), followed by enhanced advertisement of genetic education resources specifically rotations in the genetics department (22%). Other suggestions include the integration of genetic education in inpatient learning (20%) and providing research experience (7%). Conclusion Primary care residents were satisfied with their genetic knowledge in the classroom and stated a clear need for enhanced hands-on clinical skills and research experience in their current residency training. The survey suggestions for improvement can enhance primary care residents’ genetic training that can lead to advances in rare disease recognition, precision medicine, and improve access to genetics testing

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

Aberrant activation or inhibition of potassium (K+) currents across the plasma membrane of cells has been causally linked to altered neurotransmission, cardiac arrhythmias, endocrine dysfunction, and (more rarely) perturbed developmental processes. The K+ channel subfamily K member 4 (KCNK4), also known as TRAAK (TWIK-related arachidonic acid-stimulated K+ channel), belongs to the mechano-gated ion channels of the TRAAK/TREK subfamily of two-pore-domain (K2P) K+ channels. While K2P channels are well known to contribute to the resting membrane potential and cellular excitability, their involvement in pathophysiological processes remains largely uncharacterized. We report that de novo missense mutations in KCNK4 cause a recognizable syndrome with a distinctive facial gestalt, for which we propose the acronym FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth). Patch-clamp analyses documented a significant gain of function of the identified KCNK4 channel mutants basally and impaired sensitivity to mechanical stimulation and arachidonic acid. Co-expression experiments indicated a dominant behavior of the disease-causing mutations. Molecular dynamics simulations consistently indicated that mutations favor sealing of the lateral intramembrane fenestration that has been proposed to negatively control K+ flow by allowing lipid access to the central cavity of the channel. Overall, our findings illustrate the pleiotropic effect of dysregulated KCNK4 function and provide support to the hypothesis of a gating mechanism based on the lateral fenestrations of K2P channels

Enhancing Hematopoietic Stem Cell Transplantation Efficacy by Mitigating Oxygen Shock

Hematopoietic stem cells (HSCs) reside in hypoxic niches within bone marrow and cord blood. Yet, essentially all HSC studies have been performed with cells isolated and processed in non-physiologic ambient air. By collecting and manipulating bone marrow and cord blood in native conditions of hypoxia, we demonstrate that brief exposure to ambient oxygen decreases recovery of long-term repopulating HSCs and increases progenitor cells, a phenomenon we term extraphysiologic oxygen shock/stress (EPHOSS). Thus, true numbers of HSCs in the bone marrow and cord blood are routinely underestimated. We linked ROS production and induction of the mitochondrial permeability transition pore (MPTP) via cyclophilin D and p53 as mechanisms of EPHOSS. The MPTP inhibitor cyclosporin A protects mouse bone marrow and human cord blood HSCs from EPHOSS during collection in air, resulting in increased recovery of transplantable HSCs. Mitigating EPHOSS during cell collection and processing by pharmacological means may be clinically advantageous for transplantation

Mortality from gastrointestinal congenital anomalies at 264 hospitals in 74 low-income, middle-income, and high-income countries: a multicentre, international, prospective cohort study

Summary Background Congenital anomalies are the fifth leading cause of mortality in children younger than 5 years globally. Many gastrointestinal congenital anomalies are fatal without timely access to neonatal surgical care, but few studies have been done on these conditions in low-income and middle-income countries (LMICs). We compared outcomes of the seven most common gastrointestinal congenital anomalies in low-income, middle-income, and high-income countries globally, and identified factors associated with mortality. Methods We did a multicentre, international prospective cohort study of patients younger than 16 years, presenting to hospital for the first time with oesophageal atresia, congenital diaphragmatic hernia, intestinal atresia, gastroschisis, exomphalos, anorectal malformation, and Hirschsprung’s disease. Recruitment was of consecutive patients for a minimum of 1 month between October, 2018, and April, 2019. We collected data on patient demographics, clinical status, interventions, and outcomes using the REDCap platform. Patients were followed up for 30 days after primary intervention, or 30 days after admission if they did not receive an intervention. The primary outcome was all-cause, in-hospital mortality for all conditions combined and each condition individually, stratified by country income status. We did a complete case analysis. Findings We included 3849 patients with 3975 study conditions (560 with oesophageal atresia, 448 with congenital diaphragmatic hernia, 681 with intestinal atresia, 453 with gastroschisis, 325 with exomphalos, 991 with anorectal malformation, and 517 with Hirschsprung’s disease) from 264 hospitals (89 in high-income countries, 166 in middleincome countries, and nine in low-income countries) in 74 countries. Of the 3849 patients, 2231 (58·0%) were male. Median gestational age at birth was 38 weeks (IQR 36–39) and median bodyweight at presentation was 2·8 kg (2·3–3·3). Mortality among all patients was 37 (39·8%) of 93 in low-income countries, 583 (20·4%) of 2860 in middle-income countries, and 50 (5·6%) of 896 in high-income countries (p<0·0001 between all country income groups). Gastroschisis had the greatest difference in mortality between country income strata (nine [90·0%] of ten in lowincome countries, 97 [31·9%] of 304 in middle-income countries, and two [1·4%] of 139 in high-income countries; p≤0·0001 between all country income groups). Factors significantly associated with higher mortality for all patients combined included country income status (low-income vs high-income countries, risk ratio 2·78 [95% CI 1·88–4·11], p<0·0001; middle-income vs high-income countries, 2·11 [1·59–2·79], p<0·0001), sepsis at presentation (1·20 [1·04–1·40], p=0·016), higher American Society of Anesthesiologists (ASA) score at primary intervention (ASA 4–5 vs ASA 1–2, 1·82 [1·40–2·35], p<0·0001; ASA 3 vs ASA 1–2, 1·58, [1·30–1·92], p<0·0001]), surgical safety checklist not used (1·39 [1·02–1·90], p=0·035), and ventilation or parenteral nutrition unavailable when needed (ventilation 1·96, [1·41–2·71], p=0·0001; parenteral nutrition 1·35, [1·05–1·74], p=0·018). Administration of parenteral nutrition (0·61, [0·47–0·79], p=0·0002) and use of a peripherally inserted central catheter (0·65 [0·50–0·86], p=0·0024) or percutaneous central line (0·69 [0·48–1·00], p=0·049) were associated with lower mortality. Interpretation Unacceptable differences in mortality exist for gastrointestinal congenital anomalies between lowincome, middle-income, and high-income countries. Improving access to quality neonatal surgical care in LMICs will be vital to achieve Sustainable Development Goal 3.2 of ending preventable deaths in neonates and children younger than 5 years by 2030

The diversity of the formal and persuasive context of the advertising poster based on digital technology

The advertisement is a visual message and one of its forms, it is a link between the sender and the recipient, thus it takes upon itself to persuade the recipient and take it in the acquisition of the good or service due to the effect it shows in the diversity of the formal and persuasive context of the advertisement and the features in it that result from the imagination, creativity and innovation of the designer in addition to the use of programs Therefore, the designer has to follow elaborate and deliberate steps to achieve persuasion, take the interest of the recipient and achieve his desire, as the two researchers identified the research problem by asking the following question (what is the diversity of the formal and persuasive context embodied in the design structure in digital advertising) by adopting the technical aspect and following the advanced scientific method in designing Advertisements, especially printing technology, and the formal and persuasive consistency of digital advertising. The recipient is no longer that person who can easily reach his desire and draw his attention and push him to buy through simple and quick designs. The advertisement has become an elaborate creative and persuasive process. Here comes the role of the designer who opened the way to dependence on advanced digital programs and high artistic methods through formal and persuasive diversity through style and colors, and the exploitation of design spaces in a thoughtful digital manner. The recipient is no longer that person who can easily reach his desire. He caught his attention and made him buy with simple and fast designs. Technology has entered as a basic factor in designing advertisements to save time and effort and produce impressive and influential designs by relying on good foundations and contexts, as the advertisement has become an elaborate creative and persuasive process. Thus, the research was limited to three topics, the first topic, where the problem, importance and goal of the research was reviewed and terminology defined, and the second topic included the theoretical framework, while the third topic singled out the procedures used for the descriptive and analytical research approach, the research community and the sample analysis. As for the fourth topic, the findings, conclusions, recommendations, proposals and sources were reviewed

Self-regeneration of Monodisperse Hierarchical Porous NiMo/Silica Catalyst Induced by NaHCO3 for Biofuel Production

The development of hierarchical porous material as support catalysts has increased during the last decade. The present work is focused on preparing monodisperse hierarchical silica-supported NiMo catalyst using NaHCO3 as template. Hierarchical silica (HS) was prepared by varying the ratio TEOS:NaHCO3 of 1:0.1, 1:0.2, and 1:0.3 through sol–gel process. The highest acidity of hierarchical silica was applied as support of Ni and Mo metal. The addition of NaHCO3 in synthesis of silica successfully produced monodisperse hierarchical site throughout the surface of catalyst. The presence of NiMo on hierarchical silica increased the surface area and total acidity of catalyst. The highest surface area and acidity value were obtained by Ni2Mo2/ HS3 of 641.84 m2/ g and 12.05 mmol/g, respectively. In addition, the hydrocracking of waste frying oil (WFO) was conducted at the optimum temperature and catalyst-to-feed ratio with various catalysts. The best performance was achieved by Ni2Mo2/ HS3 reached 68.57 wt% consists of gasoline and diesel fractions of 18.64 and 42.88 wt%, respectively. The stability test showed that Ni2Mo2/ HS3 has the self-regeneration ability during the examinatio

“ASI Itu Penting”: Edukasi pada Ibu Hamil untuk Cegah Stunting di Kabupaten Bogor

ASI esklusif memiliki banyak dampak positif pada status gizi, kesehatan, dan tumbuh kembang bayi. Cakupan ASI esklusif di Jawa barat tahun 2021 baru mencapai 51,2%, sehingga upaya peningkatan cakupan ASI esklusif harus semakin ditingkatkan. Upaya meningkatkan ASI esklusif dapat dimulai sejak dini pada ibu hamil agar dapat mempersiapkan periode menyusui dengan baik.  Salah satunya melalui kegiatan edukasi pada ibu hamil. Kegiatan edukasi “ASI Itu Penting” dilakukan di Posyandu Subadra, Kecamatan Dramaga Kabupaten Bogor, Jawa Barat. Tujuan dari kegiatan ini untuk mengedukasi warga terutama ibu hamil tentang pentingnya ASI Eksklusif. Materi edukasi diberikan dalam bentuk lefleat dengan materi terdiri dari masalah pada ibu menyusui, manfaat ASI untuk bayi, cara menyusui, jenis posisi menyusui, dan rekomendasi makanan untuk meningkatkan produksi ASI ibu. Terjadi peningkatan pengetahuan ibu hamil sasaran yang dilihat dari peningkatan nilai rata-rata pre dan post-test sebanyak 25 poin dari 50 poin menjadi 75 poin.  Untuk keberlanjutan kegiatan, edukasi pada ibu hamil dapat dilakukan secara berkala dengan materi lain terkait gizi dan kesehatan untuk mendukung kesehatan ibu hamil dan membantu ibu hamil menyiapkan periode menyusui dengan baik serta melibatkan kader sebagai edukator promosi gizi dan kesehatan

Synchronization and different patterns in a network of diffusively coupled elegant Wang–Zhang–Bao circuits

Synchronization in coupled oscillators is of high importance in secure communication and information processing. Due to this reason, a significant number of studies have been performed to investigate the synchronization state in coupled circuits. Diffusive coupling is the simplest connection between the oscillators, which can be implemented through a variable resistor between two variables of two circuits. The Chua’s circuit is the most famous chaotic circuit whose dynamics have been investigated in many studies. However, Wang–Zhang–Bao (WZB) is another chaotic circuit that can exhibit exciting behaviors such as bistability. Thus, this study aims to investigate the cooperative dynamics of the WZB circuit in its elegant parameter values. To this issue, first, we explored the dynamic behavior of the elegant WZB circuit using the bifurcation diagrams, the Lyapunov exponents, and the basins of attraction. Based on the results, we found the range of the bifurcation parameter and the initial conditions wherein the system is bistable. Subsequently, setting the parameters in the monostable region, we studied the synchronization state of two diffusively coupled WZB circuits analytically and numerically. Consequently, we used master stability functions and temporally averaged synchronization error as the analytical and numerical tools to explore the synchronization state. Then we numerically examined the synchronization state in a network of 100 nonlocally coupled WZB oscillators. As a result, we found imperfect chimera and phase synchronization in the studied network before getting synchronized