Colonic medullary carcinoma: an exceedingly rare type of colorectal malignancy: a case report and review of the literature.

BACKGROUND: Medullary carcinoma of the colon is a rare subtype of colorectal cancer that has a unique, and sometimes varied, clinical and histologic profile. It usually presents in adult patients older than 50 years. Here, we report a unique case of young male patient who initially presented with abdominal pain followed by a large bowel obstruction. CASE PRESENTATION: A 40-year-old SriLankan male presented with right-sided abdominal pain and on examination, there was a palpable right iliac fossa mass. Colonoscopy and a computed tomography scan revealed cecal mass. Later, while waiting for elective resection, the patient developed symptoms and signs of a large bowel obstruction. He underwent a laparoscopic right hemicolectomy with an uneventful postoperative course. The histopathologic evaluation of the resected specimens showed invasive carcinoma with syncytial growth pattern, foci of lymphoid host response, and dirty necrosis, in keeping with a medullary carcinoma pT4a pN2b. Unlike most reported medullary carcinoma cases, this patient was young and caudal-related homeobox transcription factor 2 positive. CONCLUSION: We have reported another case of medullary carcinoma of the colon in a young patient with unique histologic characteristics. Reporting such cases helps in refine understanding of the histologic and genetic, as well as clinical, phenotypes of medullary carcinoma of the colon.

Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants.

BACKGROUND AND OBJECTIVES: 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. It has previously been reported in 2 families. We describe the clinical phenotype of 8 further individuals from 4 unrelated families with SLC30A9-related disease. METHOD: Following detailed clinical phenotyping, 1 family underwent research whole-genome sequencing (WGS), 1 research whole-exome sequencing, and 2 diagnostic WGS. Variants of interest were assessed for pathogenicity using in silico prediction tools, homology modeling, and, where relevant, sequencing of complementary DNA (cDNA) for splicing effect. RESULTS: In 2 unrelated families of Pakistani origin (1 consanguineous and 1 not), the same homozygous missense variant in SLC30A9 (c.1253G>T, p.Gly418Val) was identified. Family 1 included 2 affected brothers, and family 2 one affected boy. In family 3, also consanguineous, there were 4 affected siblings homozygous for the variant c.1049delCAG, pAla350del. The fourth family was nonconsanguineous: the 1 affected individual was compound heterozygous for c.1083dup, p.Val362Cysfs*5, and c.1413A>G, p.Ser471=. Despite phenotypic variability between the 4 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 modeling. Its presence in 2 unrelated Pakistani families suggests a possible founder variant. For the synonymous variant p.Ser471=, an effect on splicing was confirmed through cDNA analysis. DISCUSSION: Pathogenic variants in SLC30A9 cause a progressive autosomal recessive neurologic 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 recognized.

Impact of Clinical Pharmacist-Led Interventions on Drug-Related Problems Among Pediatric Cardiology Patients: First Palestinian Experience.

Background: Discovery and resolution of drug-related problems (DRPs) are taken as the cornerstone in the entire pharmaceutical care process to improve patient outcomes. Very limited reports on the analysis of DRPs in pediatric cardiology have been released worldwide. Objective: The aim of this study was to disclose the impact of clinical pharmacist's interventions on DRPs among pediatric cardiology patients in Palestine. Methods: Between January and September 2021, a prospective interventional study involving clinical pharmacist's care was implemented in the cardiology ward of Al-Rantisy Specialized Pediatric Hospital in Gaza, Palestine. Pharmaceutical Care Network Europe model 9.1 was used to identify DRPs, causes of the problem, clinical pharmacist's interventions, cardiologist's acceptance, and outcomes. Results: A total of 309 DRPs were identified in 87 patients, representing a mean of 3.55 problems per patient. The most common DRPs were "Treatment effectiveness" (50.8%) and "Treatment safety" (30.4%), while the main causes of these DRPs were "Errors in dose timing instructions" (9.4%) and "Inappropriate combination of drugs" (13.7%), respectively. Analysis revealed that 96.7% of the interventions suggested by the clinical pharmacist were accepted by cardiologists and that 92.1% of problems were fully resolved with improved patient outcomes. Conclusion: Interventions offered by the clinical pharmacist successfully addressed DRPs and positively impacted treatment outcomes in pediatric cardiology patients. With the high acceptance of pediatric cardiologists to the clinical pharmacist's experience in Palestine, there is a growing need to integrate clinical pharmacists into cardiology teamwork care to optimize drug therapy and patient safety.

A Meta-analysis of Transanal Endoscopic Microsurgery versus Total Mesorectal Excision in the Treatment of Rectal Cancer.

Background Transanal endoscopic microsurgery (TEMS) has been suggested as an alternative to total mesorectal excision (TME) in the treatment of early rectal cancers. The extended role of TEMS for higher stage rectal cancers after neoadjuvant therapy is also experimented. The aim of this meta-analysis was to compare the oncological outcomes and report on the evidence-based clinical supremacy of either technique. Methods Medline, Embase, and Cochrane databases were searched for the randomized controlled trials comparing the oncological and perioperative outcomes of TEMS and a radical TME. A local recurrence and postoperative complications were analyzed as primary end points. Intraoperative blood loss, operation time, and duration of hospital stay were compared as secondary end points. Results There was no statistical difference in the local recurrence or postoperative complications with a risk ratio of 1.898 and 0.753 and p -values of 0.296 and 0.306, respectively, for TEMS and TME. A marked statistical significance in favor of TEMS was observed for secondary end points. There was standard difference in means of -4.697, -6.940, and -5.685 with p -values of 0.001, 0.005, and 0.001 for blood loss, operation time, and hospital stay, respectively. Conclusion TEMS procedure is a viable alternative to TME in the treatment of early rectal cancers. An extended role of TEMS after neoadjuvant therapy may also be offered to a selected group of patients. TME surgery remains the standard of care in more advanced rectal cancers.

State of the art in robotic rectal surgery: marginal gains worth the pain?

After their first introduction in the 1990s to overcome the limitations of conventional laparoscopic surgery, especially in confined spaces such as the pelvis, telemanipulators (i.e., master-slave manipulators) have gained popularity and acceptance among gastrointestinal surgeons. These complex, interventional surgical devices use multiple technologies, such as 3-D advanced imaging, tremor reduction and 7-degree movement. Superior instrument dexterity, stable precise vision and accessibility to narrow confined spaces make these devices well suited for colorectal surgery. The drive for innovations in the field of surgical robotics will leverage novel robots driven by data, image integration, and artificial intelligence. However, if this vision is to be realized, lessons must be learned from the current literature and clinical trials. The feasibility and safety of robotic rectal surgery is now well established; increasing evidence suggests that when compared to laparoscopic rectal surgery, robotic approaches might offer superior peri-operative outcomes. Notably, the marginal gains achieved with the use of robotics in rectal cancer surgery are linked with structured training and standardization of operative techniques. With decreasing costs and wider availability of new systems, it is foreseeable that robotic surgical systems will be an integral part of colorectal practice.