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Lemongrass (Cymbopogon citrates) is grown in tropical and semi-tropical climates. It is an aromatic herb widely used as a flavoring agent in human foods due to its potent flavor. It also includes essential oils, which are important for their antibacterial, antidiarrheal, antifungal, antioxidant, and growth-promoting properties. The experiment was carried out to evaluate lemongrass essential oil (LGEO) supplementation in growing quails. 240 seven days old unsexed Japanese quail (Coturnix japonica) were divided into four groups of 30 quails each. There were ten replicates for each group, with six birds per replicate. The first group received no supplementation, whereas the second, third, and fourth groups received LGEO supplements 0.2, 0.4, and 0.8 g/kg, respectively. Results showed that the growth performance (GP) traits were affected positively by LGEO addition (P ≤ 0.01) at 0.4 g/kg compared to control. All carcass traits were improved significantly (P ≤ 0.01) as affected by LGEO supplementation except carcass percentage. Also, LGEO supplementation enhances meat quality as it improves significantly (P ≤ 0.01) thigh meat water holding capacity (WHC) and pH values. Blood characteristics showed significantly decrease (P ≤ 0.01) on lipid profile, aspartate aminotransferase (AST), alanine aminotransferase (ALT) and malondialdehyde (MDA) as affected by LGEO supplementation, inversely total protein, total antioxidant capacity (TAC), catalase, reduced glutathione (GSH) and superoxide dismutase (SOD) were significantly increased by LGEO supplementation. Likewise, LGEO supplementation improves the concentration of lactobacillus. Results indicated that adding LGEO at 0.4 g/kg diet in quails diets enhance GP, meat quality, blood characteristics, and caecum microorganisms.

Purpose: SRRM2 encodes the SRm300 protein, a splicing factor of the SR-related protein family characterized by its serine- and arginine-enriched domains. It promotes interactions between messenger RNA and the spliceosome catalytic machinery. This gene, predicted to be highly intolerant to loss of function (LoF) and very conserved through evolution, has not been previously reported in constitutive human disease., Methods: Among the 1000 probands studied with developmental delay and intellectual disability in our database, we found 2 patients with de novo LoF variants in SRRM2. Additional families were identified through GeneMatcher., Results: Here, we report on 22 patients with LoF variants in SRRM2 and provide a description of the phenotype. Molecular analysis identified 12 frameshift variants, 8 nonsense variants, and 2 microdeletions of 66 kb and 270 kb. The patients presented with a mild developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight, and dysmorphic facial features. Intellectual disability was variable and mild when present., Conclusion: We established SRRM2 as a gene responsible for a rare neurodevelopmental disease., Competing Interests: Conflict of Interest This work was carried out within the framework of Nantes University Medical Center activity without additional funding. One patient was diagnosed in the context of work in a private company (AiLife Diagnostics, Pearland, Texas). The other authors declare no conflicts of interest., (Copyright © 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.)

Objective: Embolo-sclerotherapy (EST) is the mainstay therapy for peripheral vascular malformations that involves the exposure of patients to ionizing radiation. We analyzed the radiation exposure to patients from EST of peripheral vascular malformations during a 5-year period in a single specialist center., Methods: All patients who had undergone EST at a single specialist center for peripheral vascular malformations from January 1, 2013 to January 8, 2018 were identified from a prospectively collected database. Data collection included basic demographics, procedure date, anatomic site, type of vascular malformations, and procedural details. Radiation exposure, measured as the dose-area product (DAP) and fluoroscopy time, of all patients who had undergone EST during the study period were retrospectively reviewed. Statistical analysis was performed using the Mann-Whitney U and Kruskal-Wallis tests for comparison between subgroups. P < .05 was considered statistically significant., Results: A total of 237 patients (median age, 30 years; range, 1-73 years) had undergone 419 EST sessions during the study period. Of the 237 patients, 61 (25.7%) had had arteriovenous malformations (AVMs) and had undergone 140 EST sessions (33.4%) and 176 (74.3%) had had venous and lymphatic malformations and had undergone 279 EST sessions (66.6%). Patients with AVMs had undergone a median of 2 procedures (range, 1-13) compared with a median of 1 (range, 1-6) for venous and lymphatic malformations within the study period. The median DAP for the single and cumulative EST for peripheral vascular malformations was 1.26 Gycm 2 (range, 0.00-698.36 Gycm 2 ) and 1.91 Gycm 2 (range, 0.00-1300.24 Gycm 2 ), respectively. The median fluoroscopy time for single and cumulative EST was 19 seconds (range, 1-3846 seconds) and 30 seconds (range, 1-5843 seconds), respectively. Significantly greater patient radiation exposure, in DAP and fluoroscopy time, was measured for single and cumulative EST for AVMs compared with venous and lymphatic malformations (P < .01 for both; Mann-Whitney U test). A significant difference in DAP but not fluoroscopy time was found when the anatomic areas of vascular malformations were compared., Conclusions: Patient radiation exposure for EST for peripheral vascular malformations, measured in DAP and fluoroscopy time, appeared to be generally less than that reported for endovascular arterial and deep venous interventions. However, some patients with peripheral vascular malformations received relatively high radiation doses. Further studies to investigate the risk factors and long-term side effects of radiation exposure in these patients and strategies to reduce these are required., (Crown Copyright © 2020. Published by Elsevier Inc. All rights reserved.)

Congenital Disorders of Glycosylation (CDG) are new and rapidly expanding neurometabolic disorders with multisystem involvements, broad phenotypic manifestations, and variable severity. The majority results from a defect of one of the steps involved with protein or lipid N-glycosylation pathway. Almost all are inherited in autosomal recessive patterns with a few exceptions such as the X-linked ALG13. Mutations of ALG13 are reported, so far in only 10 patients, all were ascertained through exome/genome sequencing. Specifically, the ALG13 c.320A > G (p.Asn107Ser) variant was reported only in females and in all were de novo mutations. These findings may suggest an X-linked dominant inheritance of this mutation with embryonic male lethality. These patients presented with severe infantile epileptic encephalopathy, global developmental delay, and multisystem abnormalities. Only two of these females had glycosylation studies done, and both showed normal pattern of glycosylated serum transferrin isoforms, and none had their X-chromosome inactivation patterns studied. Here, we report on another female patient who is heterozygous for the same ALG13 c.320A > G (p.Asn107Ser) variant. She presented with infantile spasms, epileptic encephalopathy, hypsarrhythmia, hypotonia, developmental delay, intellectual disability, abnormal coagulation profile, feeding problems, hypotonia, and dysmorphic features. The diagnosis of CGD was suspected clinically, but glycosylation studies were done twice and showed normal patterns on both occasions. Her X-inactivation study was also done and, surprisingly, showed a random pattern of X-inactivation, with no evidence of skewness., (Copyright © 2017 Elsevier Masson SAS. All rights reserved.)

In recent decades, healthcare organizations have undergone a significant transformation with the integration of Information and Communication Technologies within healthcare operations to improve healthcare services. Various technologies such as Hospital Information Systems (HIS), Electronic Health Records (EHR) and Laboratory Information Systems (LIS) have been incorporated into healthcare services. The aim of this study is to evaluate the completeness of outpatients' laboratory paper based request forms in comparison with a electronic laboratory request system. This study was carried out in the laboratory department at King Abdulaziz Medical City (KAMC), National Guard Health Affairs, Riyadh, Saudi Arabia. We used a sample size calculator for comparing two proportions. We estimated the sample size to be 228 for each group. Any laboratory requests including paper and electronic forms were included. We categorized the clarity of the forms into understandable, readable, and unclear. A total of 57 incomplete paper forms or 25% were identified as being incomplete. For electronic forms, there were no incomplete fields, as all fields were mandatory, therefore, rendering them complete. The total of understandable paper-based laboratory forms was 11.4%. Additionally, it was found that the total of readable was 33.8% and the total for unclear was 54.8%, while for electronic-based forms, there were no unclear forms. Electronic based laboratory forms provide a more complete, accurate, clear, and understandable format than paper-based laboratory records. Based on these findings, KAMC should move toward the implementation of electronic-based laboratory request forms for the outpatient laboratory department., (Copyright © 2016 King Saud Bin Abdulaziz University for Health Sciences. Published by Elsevier Ltd. All rights reserved.)

Among the most common and chronic problems in the healthcare system worldwide is the crowding of emergency rooms (ER); leading to many serious complications. King Faisal Specialist Hospital and Research Center utilized health analytics methods to identify areas of deficiency and suggest potential improvements to ER performance. The project implemented solutions and monitored two indicators; ER length of stay (LOS), reflecting efficiency, and percentage of patients leaving without treatment, reflecting effectiveness of the ER. A retrospective analysis of 26,948 ER encounters in 2014 was done in January 2015. Analytics techniques were used to suggest process redesign based on results. Two recommendations were implemented; a Fast-Track for lower acuity ER patients and an internal waiting area, for those patients who can stay vertical and spare an ER bed. 32.8% of ER patients had lower acuity levels and less than 0.5% of them were admitted to the hospital. After implementing the two solutions, the total ER LOS was reduced from 20h in 2014 to less than 12h in 2016; 40% improvement. The percentages of patients left without being seen stayed around 3.5%, while the percentages of patients left before complete treatment was significantly reduced from 13.5% in 2014 to 5.5% in 2016. Consequently, the total percentage of patients left without treatment was reduced from 17% in 2014 to 9% in 2016, with 50% improvement. All other factors were the same, including numbers of ER visits, Patient Acuity Level, working staff, working hours, and the count of ER beds. Health analytics methods can be used to identify areas of deficiency, potential improvements, and recommend effective solutions to positively enhance ER performance. More solutions should be examined such as team triaging, patients palmar scanning, and placing a physician in triage. Additionally, more indicators should be monitored, such as the effectiveness of ER treatment-including the rates of revisits., (Copyright © 2016 King Saud Bin Abdulaziz University for Health Sciences. Published by Elsevier Ltd. All rights reserved.)

WDR45 and POLR3A are newly recognized genes; each is associated with a distinct neurodegenerative disease. WDR45 is an X-linked gene associated with a dominant form of Neurodegeneration with Brain Iron Accumulation (NBIA), manifested by progressive disabilities, dystonia, cognitive decline, spastic paraplegia, neuropsychiatric abnormalities and iron deposition in the basal ganglia on brain imaging. POLR3A, on the other hand, is an autosomal gene, and its mutations cause a recessive form of a hypomyelination with leukodystrophy disease, also known as 4H syndrome, characterized by congenital Hypomyelination with thinning of the corpus callosum, Hypodontia and Hypogonadotropic Hypogonadism. We report on a female child with severe intellectual disability, aphasia, short stature, ataxia, failure to thrive and structural brain abnormalities. Brain MRI obtained in late infancy showed hypomyelination involving the central periventricular white matter and thinning of the corpus callosum with no evidence of iron accumulation. Brain MRI obtained in childhood showed stable hypomyelination, with progressive iron accumulation in the basal ganglia, in particular in the globus pallidus and substantia nigra. Whole Exome Sequencing (WES) identified a novel WDR45 frameshift deleterious mutation in Exon 9 (c.587-588del) and also revealed three POLR3A missense heterozygous variants. The first is a maternally inherited novel missense variant in exon 4 (c.346A > G). Exon 13 carried two heterozygous missense variants, a maternally inherited variant (c.1724A > T) and a paternally inherited variant (1745G > A). These variants are considered likely damaging. The patient's complex clinical phenotype and mixed brain MRI findings might be attributed to the confounding effects of the expression of these two mutant genes., (Copyright © 2015 Elsevier Masson SAS. All rights reserved.)