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Abstract Pediatric cardiomyopathies are mostly attributed to variants in sarcomere-related genes. Unfortunately, the genetic architecture of pediatric cardiomyopathies has never been previously studied in Jordan. We sought to uncover the genetic landscape of 14 patients from nine families with several subtypes of pediatric cardiomyopathies in Jordan using Exome sequencing (ES). Our investigation identified pathogenic and likely pathogenic variants in seven out of nine families (77.8%), clustering in sarcomere-related genes. Surprisingly, phenocopies of sarcomere-related hypertrophic cardiomyopathies were evident in probands with glycogen storage disorder and mitochondrial-related disease. Our study underscored the significance of streamlining ES or expanding cardiomyopathy-related gene panels to identify plausible phenocopies of sarcomere-related cardiomyopathies. Our findings also pointed out the need for genetic testing in patients with cardiomyopathy and their at-risk family members. This can potentially lead to better management strategies, enabling early interventions, and ultimately enhancing their prognosis. Finally, our findings provide an initial contribution to the currently absent knowledge about the molecular underpinnings of cardiomyopathies in Jordan.

Gut microbiota interacts with host epithelial cells and regulates many physiological functions such as genetics, epigenetics, metabolism of nutrients, and immune functions. Dietary factors may also be involved in the etiology of colorectal cancer (CRC), especially when an unhealthy diet is consumed with excess calorie intake and bad practices like smoking or consuming a great deal of alcohol. Bacteria including Fusobacterium nucleatum, Enterotoxigenic Bacteroides fragilis (ETBF), and Escherichia coli (E. coli) actively participate in the carcinogenesis of CRC. Gastrointestinal tract with chronic inflammation and immunocompromised patients are at high risk for CRC progression. Further, the gut microbiota is also involved in Geno-toxicity by producing toxins like colibactin and cytolethal distending toxin (CDT) which cause damage to double-stranded DNA. Specific microRNAs can act as either tumor suppressors or oncogenes depending on the cellular environment in which they are expressed. The current review mainly highlights the role of gut microbiota in CRC, the mechanisms of several factors in carcinogenesis, and the role of particular microbes in colorectal neoplasia.

Background: Patients' satisfaction in emergency departments (EDs) could be improved by providing estimates of the expected waiting time. Aim: The aim of this study was to determine waiting time and assess patients' satisfaction in EDs. Setting and Design: A descriptive, cross-sectional study was carried out in Taif city included patients who come to EDs of three main hospitals throughout the period from mid-August to mid-September 2022 if they aged from 18 to 65 years. Materials and Methods: Data were collected through a pretested Arabic version of the Brief Emergency Department Patient Satisfaction Scale questionnaire. Statistical Analysis: Data were entered into the Statistical Package for the Social Sciences (SPSS) software version 26 for Windows. Results: The study included 612 patients. Almost a quarter (23%) aged 25–34 years. Regarding satisfaction of patients with ED, the highest score was observed concerning physicians' care (4.31 ± 0.88) whereas the lowest satisfaction score was reported regarding arrival in reception (AIR) (3.57 ± 1.08). The highest score was observed among those who attended King Faisal Medical Complex (4.19 ± 0.74), whereas the lowest score was observed among those who attended Alhada Armed Forces Hospital (3.75 ± 0.91), P < 0.001. The highest score of satisfaction was observed among patients aged 65 years/above (4.08 ± 0.76), P = 0.041. Non-Saudi patients were more likely to be satisfied compared to Saudi patients (4.33 ± 0.77 vs. 3.89 ± 0.87), P < 0.001. Patients who did not read/write were more likely to be satisfied compared to educated patients (4.23 ± 0.83 vs. 3.89 ± 0.87), P = 0.001. The waiting time exceeded 2 h among 13.9% of patients. With decreasing the waiting time, the patients' satisfaction with ED was increasing, P < 0.001. Conclusion: The overall patients' satisfaction with ED was high; it was lowest regarding AIR. In addition, longer waiting time was associated with patients' dissatisfaction.

A field experiment was carried out in the farmer's fields of the Bhagalpur District of Bihar during the rabi seasons of 2016-17 and 2017-18 to ascertain the impact of high fertility levels and plant geometry on the productivity and profitability of rabi maize. There were total five treatments consisting of different plant geometry and fertilizer rate. The five treatments viz.,T1- 60 × 20 cm spacing with 120:75:50 kg/ha (Farmers practice), T2- 50 × 20 cm spacing with 150:93.75:62.5 kg/ha, T3- 40 × 20 cm spacing with 150:93.75:62.5 kg/ha, T4- 50 × 20 cm spacing with 180:112.5:75 kg/ha and T5- 40 × 20 cm spacing with 180:112.5:75 kg/ha N, P2O5 and K2O, respectively were arranged in a Randomized Block Design (RBD) with five replications. Polled data of two consecutive years revealed that all the higher fertility levels with reduced plant geometry produced higher yield attributes and yield of rabi maize and also sustained soil fertility as compare to the farmer's practice. Significantly, highest cob length (19.49 cm), cob girth (12.83 cm), 1000-grain wt (305.5 g), grain yield (115.94 q/ha) and net returns of INR 101434/ha were recorded with 180 : 112.5 : 75 kg/ha N, P2O5 and K2O with the plant spacing of 50×20 cm (T4). Application of 150:93.75:62.5 kg/ha N, P2O5 and K2O at plant spacing 50 × 20 cm (T2) being at par with 180:112.5:75 kg/ha N, P2O5 and K2O with the plant spacing of 50 × 20 cm (T4) and 180:112.5:75 kg/ha N, P2O5 and K2O at plant spacing 40 × 20 cm (T5). [ABSTRACT FROM AUTHOR]

Utilizing agricultural and industrial wastes, potent reservoirs of nutrients, for nourishing the soil and crops through composting embodies a sustainable approach to waste management and organic agriculture. To investigate this, a 2-year field experiment was conducted at ICAR-IARI, New Delhi, focusing on a pigeon pea--vegetable mustard--okra cropping system. Seven nutrient sources were tested, including a control (T1), 100% recommended dose of nitrogen (RDN) through farmyard manure (T2), 100% RDN through improved rice residue compost (T3), 100% RDN through a paddy husk ash (PHA)--based formulation (T4), 75% RDN through PHA-based formulation (T5), 100% RDN through a potato peel compost (PPC)--based formulation (T6), and 75% RDN through PPC-based formulation (T7). Employing a randomized block design with three replications, the results revealed that treatment T4 exhibited the significantly highest seed (1.89 ± 0.09 and 1.97 ± 0.12 t ha-1) and stover (7.83 ± 0.41 and 8.03 ± 0.58 t ha-1) yield of pigeon pea, leaf yield (81.57 ± 4.69 and 82.97 ± 4.17 t ha-1) of vegetable mustard, and fruit (13.54 ± 0.82 and 13.78 ± 0.81 t ha-1) and stover (21.64 ± 1.31 and 22.03 ± 1.30 t ha-1) yield of okra during both study years compared to the control (T1). Treatment T4 was on par with T2 and T6 for seed and stover yield in pigeon pea, as well as okra, and leaf yield in vegetable mustard over both years. Moreover, T4 demonstrated notable increase of 124.1% and 158.2% in NH4-N and NO3-N levels in the soil, respectively, over the control. The enhanced status of available nitrogen (N) and phosphorus (P) in the soil, coupled with increased soil organic carbon (0.41%), total bacteria population (21.1%), fungi (37.2%), actinomycetes (44.6%), and microbial biomass carbon (28.5%), further emphasized the positive impact of T4 compared to the control. Treatments T2 and T6 exhibited comparable outcomes to T4 concerning changes in available N, P, soil organic carbon, total bacteria population, fungi, actinomycetes, and microbial biomass carbon. In conclusion, treatments T4 and T6 emerge as viable sources of organic fertilizer, particularly in regions confronting farmyard manure shortages. These formulations offer substantial advantages, including enhanced yield, soil quality improvement, and efficient fertilizer utilization, thus contributing significantly to sustainable agricultural practices. [ABSTRACT FROM AUTHOR]

The preparation of enriched formulation by integrating of agricultural wastes such as paddy husk ash (PHA) and potato peel with organic fertilizer such as farmyard manure (FYM), compost can enrich the soil with essential plant nutrients, leading to higher yields in subsequent crops and potentially reducing the dependence on farmyard manure/compost alone. However, there is lack of adequate research findings regarding the impact of different formulations generated from agricultural waste on productivity, nutrient utilization efficiency and profitability of baby corn-kabuli gram-vegetable cowpea cropping system. Therefore, a two-year field experiment (2020-2022) was conducted ICAR-IARI, New Delhi with baby corn-kabuli gram-vegetable cowpea cropping system. Seven nutrient sources were tested in Randomized Block Design and replicate thrice. The results showed that treatment T4 (100% recommended dose of nitrogen (RDN) through PHA based formulation) had significant effect on crop yield grown in rotation, followed by treatment T6 (100% RDN through potato peel compost (PPC) based formulation) and T2 (100% RDN through FYM). The increase in yield was 75.0, 44.3 and 33.1% during first year and 72.6, 45.9 and 31.0% during second year, respectively, over control. Treatment T4 also significantly enhanced system uptake of N, P and K as well as system gross returns and net returns, resulting in 65.6, 84.9, 69.5, 50.7 and 55.2% higher returns during first year and 68.6, 80.5, 73.9, 50.0 and 54.2% higher returns during second year, respectively, over control. Furthermore, treatment T4 significantly improved agronomic nitrogen use efficiency and apparent recovery by 151.6 and 2.0% in baby corn, 74.2 and 1.5% in kabuli gram, 55.7 and 13.9% in veg cowpea over T7, respectively, averaged across two years of study. Based on these results, it is recommended to adopt (T4) 100% RDN through PHA based formulation, and (T6) 100% RDN through PPC based formulation in the area with a shortage of FYM but with the availability of rice husk ash or pototo peels for sustainable utilization of the agricultural wastes and improving the agricultural sustainability. [ABSTRACT FROM AUTHOR]

Niemann–Pick disease type C (NPC) is an autosomal recessive neurovisceral disease characterized by progressive neurodegeneration with variable involvement of multisystemic abnormalities. Crohn’s disease (CD) is an inflammatory bowel disease (IBD) with a multifactorial etiology influenced by variants in NOD2. Here, we investigated a patient with plausible multisystemic overlapping manifestations of both NPC and CD. Her initial hospitalization was due to a prolonged fever and non-bloody diarrhea. A few months later, she presented with recurrent skin tags and anal fissures. Later, her neurological and pulmonary systems progressively deteriorated, leading to her death at the age of three and a half years. Differential diagnosis of her disease encompassed a battery of clinical testing and genetic investigations. The patient’s clinical diagnosis was inconclusive. Specifically, the histopathological findings were directed towards an IBD disease. Nevertheless, the diagnosis of IBD was not consistent with the patient’s subsequent neurological and pulmonary deterioration. Consequently, we utilized a genetic analysis approach to guide the diagnosis of this vague condition. Our phenotype–genotype association attempts led to the identification of candidate disease-causing variants in both NOD2 and NPC1. In this study, we propose a potential composite digenic impact of these two genes as the underlying molecular etiology. This work lays the foundation for future functional and mechanistic studies to unravel the digenic role of NOD2 and NPC1.

Abstract Background Inherited retinal dystrophies (IRDs) are characterized by extreme genetic and clinical heterogeneity. There are many genes that are known to cause IRD which makes the identification of the underlying genetic causes quite challenging. And in view of the emergence of therapeutic options, it is essential to combine molecular and clinical data to correctly diagnose IRD patients. In this study, we aimed to identify the disease‐causing variants (DCVs) in four consanguineous Jordanian families with IRDs and describe genotype–phenotype correlations. Methods Exome sequencing (ES) was employed on the proband patients of each family, followed by segregation analysis of candidate variants in affected and unaffected family members by Sanger sequencing. Simulation analysis was done on one novel CLRN1 variant to characterize its effect on mRNA processing. Clinical evaluation included history, slit‐lamp biomicroscopy, and indirect ophthalmoscopy. Results We identified two novel variants in CLRN1 [(c.433+1G>A) and (c.323T>C, p.Leu108Pro)], and two recurrent variants in ABCA4 [(c.1648G>A, p.Gly550Arg) and (c.5460+1G>A)]. Two families with the same DCV were found to have different phenotypes and another family was shown to have sector RP. Moreover, simulation analysis for the CLRN1 splice donor variant (c.433+1G>A) showed that the variant might affect mRNA processing resulting in the formation of an abnormal receptor. Also, a family that was previously diagnosed with nonsyndromic RP was found to have Usher syndrome based on their genetic assessment and audiometry. Conclusion Our findings extend the spectrum of CLRN1‐ and ABCA4‐associated IRDs and describe new phenotypes for these genes. We also highlighted the importance of combining molecular and clinical data to correctly diagnose IRDs and the utility of simulation analysis to predict the effect of splice donor variants on protein formation and function.