Early Online (Volume - 8 | Issue - 1)

Pancreatico-gastric Fistula

Published on: 6th February, 2024

A 43-year-old man presented to the emergency department with syncope following hematemesis. He gave the history of melena for 3 days.
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A Rare Consanguineous Case of Alazami Syndrome in a Jordanian Family: Clinical Presentation, Genetic Analysis, and Therapeutic Approaches - A Case Report

Published on: 7th May, 2024

Objective: Alazami syndrome (AS) is an infrequent genetic disorder inherited in an autosomal recessive pattern, characterized by the presence of multiple congenital abnormalities. This study explores a case of a 4-year-old girl with AS, examining symptoms, genetic factors, and treatment efficacy. Case report: A 4-year-old girl, born to consanguineous Jordanian parents, displayed dysmorphic features including low birth weight, microcephaly, hyperthyroidism, short stature, blue sclera, triangular-shaped face, deep-set eyes, narrow palpebral fissures, and a prominent forehead. Examination revealed height (92 cm) and weight (7.7 kg) below the 5th and 3rd percentiles respectively. Blood tests and renal ultrasound were normal. Whole exome sequencing (WES) identified a homozygous eight-base pair deletion within exon 5 of the LARP7 gene on chromosome 4q25, confirming the diagnosis of AS, an autosomal recessive disorder. This variant induces frameshift mutations leading to premature stop codons, suggesting a probable mechanism of illness via loss of function. Treatment involving growth monitoring and therapy led to significant improvements in height, weight, and communication skills within three months. Conclusion: We describe a rare autosomal recessive AS case due to consanguinity, with a frameshift mutation in the LARP7 gene found via WES. Our AS treatment program effectively alleviates symptoms and enhances developmental progress.
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Establishment of a Best Practice Recommendation (BPR) for Abdominal Aortic Aneurysms in a Large Multi-State Radiology Practice: Adoption and Impact

Published on: 26th August, 2024

Purpose of the study:  To evaluate the performance of Best Practice Recommendation (BPR) compliance in reporting abdominal aortic aneurysm findings on imaging, comparing the results before and after its deployment.Methods: Best Practice Recommendations for AAA were deployed in 2020 at a large radiology practice site. Reports between January 2018 through October 2022 were reviewed, representing studies read prior to and subsequent to the implementation of the reporting standards. Cases of abdominal aortic aneurysms ≥ 2.6 cm were counted by year. Adherence to the BPR for each year was calculated as [total number of confirmed cases of ≥ 2.6 cm AAAs with compliant reports] * 100 / [the total number of confirmed ≥ 2.6 cm AAAs]. A secondary analysis was performed to determine whether there was a statistically significant difference in the proportion of BPR-compliant reports for AAA cases before (from 2018 to 2019) and after (from 2020 to 2022) BPR deployment using a chi-square test. Results: From January 2018 to December 2022, there were 8,693 reports referencing AAA. After excluding cases of suspected AAA (N = 2,131), confirmed AAAs with indeterminate sizes (N = 103), and confirmed AAAs with sizes < 2.6 cm (N = 85), the number of AAA cases ≥ 2.6 cm in size was 6,374. Concordance with the BPR standards for the remaining cases with sizes ≥ 2.6 cm were 1.6% and 4.1% in 2018 and 2019, respectively. Post-implementation of BPRs, there was a substantial improvement in guideline adherence to 32.1%, 84.3%, and 83.6% in 2020, 2021, and 2022, respectively. In general, the proportion of BPR-compliant reports of AAA cases in the pre-deployment (3.6%) period statistically differs (p - value < 0.0001) from those in the post-deployment period (73.9%)Conclusion: Adherence to reporting standards increased after the BPR deployment in 2020. The inclusion of management recommendations in the radiology report when AAA is identified is a simple and cost-effective way of improving outcomes for patients with AAAs through appropriate follow-up treatment.
Cite this ArticleCrossMarkPublonsHarvard Library HOLLISGrowKudosResearchGateBase SearchOAI PMHAcademic MicrosoftScilitSemantic ScholarUniversite de ParisUW LibrariesSJSU King LibrarySJSU King LibraryNUS LibraryMcGillDET KGL BIBLiOTEKJCU DiscoveryUniversidad De LimaWorldCatVU on WorldCat
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