Colonic lipomas are uncommon tumors that may remain asymptomatic and seen incidentally on endoscopy, surgery, or autopsy. They can cause constipation, bleeding that may lead to anemia, and acute abdominal pain due to intussusception if larger than five centimeters, particularly when pedunculated. Colonoscopy can reveal a protruding luminal mass, whereas a Computed Tomography (CT) can precisely localize, indicate the nature, and characterize the composition. Removal by endoscopy in smaller and surgical resection remains the treatment of choice for larger lesions by open laparotomy or laparoscopy. We describe a case series of three patients who underwent laparoscopic resection of the colon for symptomatic large lipomas in our hospital.
Background: Proper drug prescribing can contribute immensely to reducing overall morbidity, mortality, and cost of pharmacotherapy, particularly in the management of heart disease. Currently, no studies have been implemented on the appropriateness of cardiologist prescribing among hospitalized pediatric patients in Palestine. This study aimed to compare the prescribing pattern of pediatric cardiologists during clinical pharmacist intervention versus routine cardiologists' practice at a tertiary care hospital in Palestine. Methods: A comparative study of 48 pediatric patients who were admitted to the cardiology ward in 2020 and readmitted in 2021 was conducted. This comprised two stages: routine practice stage (S0) of cardiologists without clinical pharmacist intervention, and intervention stage (S1) where clinical pharmacist prospectively involved in cardiology teamwork. Prescribing indicators and length of hospital stay were compared between the two study stages using Pearson's chi- square and paired t-test. Results: Compared with the routine practice stage, drugs prescribed per patient were significantly lower in the intervention stage ( mean 5.98 S1 versus 6.87 S0; P=0.043). Higher drugs prescribed by generic names were found in the intervention stage (97.2% S1 versus 72.1% S0; P= 0.002). Patients in the intervention stage encountered significantly fewer antibiotics than in the routine practice stage (60.4% and 77.1%, respectively; P=0.009). The mean length of hospital stay was significantly reduced from 8.22 days in the routine practice stage to 6.93 days in the intervention stage (P=0.032). There were no significant differences in the prescribing of essential drugs (99.3% S1 versus 95.2% S0; P=0.152) and injections (75.0% S1 versus 73.0% S0; P=0.496) between the two stages. Conclusion: Clinical pharmacist intervention has optimized the prescribing pattern of pediatric cardiologists and reduced the length of stay for hospitalized pediatric patients. Palestinian health leaders have to support the involvement of clinical pharmacists in cardiology and other disciplines to promote rational prescribing and drug utilization.
Objective: Birk-Landau-Perez syndrome is a genetic disorder caused by biallelic pathogenic variants in SLC30A9 presenting with a complex movement disorder, developmental regression, oculomotor abnormalities and renal impairment. So far it has been reported in only two families. We describe the clinical phenotype of eight further individuals from four unrelated families with SLC30A9-related disease. Method: Following detailed clinical phenotyping, one family underwent research wholegenome sequencing (WGS), one research whole-exome sequencing (WES) and two diagnostic WGS. Variants of interest were assessed for pathogenicity using in silico prediction tools, homology modelling and where relevant, sequencing of cDNA for splicing impact. Results: In two unrelated families of Pakistani origin (one consanguineous, one not), the same homozygous missense variant in SLC30A9 (c.1253G>T, p.Gly418Val) was identified. Family 1 included two affected brothers, and Family 2 one affected boy. In Family 3, also consanguineous, there were four affected siblings homozygous for the variant c.1049delCAG, pAla350del. The fourth family was non-consanguineous: the one affected individual was compound heterozygous for c.1083dup, p.Val362Cysfs*5 and c.1413A>G, p.Ser471=. Despite phenotypic variability between the four families, all affected patients manifested with a progressive hyperkinetic movement disorder, associated with oculomotor apraxia and ptosis. None had evidence of severe renal impairment. For the novel missense variant, the conformation of the loop domain and packing of transmembrane helices are likely to be disrupted based on structure modelling. Its presence in two unrelated Pakistani families suggests a possible founder variant. For the synonymous variant p.Ser471=, an impact on splicing was confirmed through cDNA analysis. Discussion: Pathogenic variants in SLC30A9 cause a progressive autosomal recessive neurological syndrome associated with a complex hyperkinetic movement disorder. Our report highlights the expanding disease phenotype, which can present with a wider spectrum of severity than has previously been recognised.
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