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BJS Open May 2024Diverticulosis is a normal anatomical variant of the colon present in more than 70% of the westernized population over the age of 80. Approximately 3% will develop...
BACKGROUND
Diverticulosis is a normal anatomical variant of the colon present in more than 70% of the westernized population over the age of 80. Approximately 3% will develop diverticulitis in their lifetime. Many patients present emergently, suffer high morbidity rates and require substantial healthcare resources. Diverticulosis is the most common finding at colonoscopy and has the potential for causing a significant morbidity rate and burden on healthcare. There is a need to better understand the aetiology and pathogenesis of diverticular disease. Research suggests a genetic susceptibility of 40-50% in the formation of diverticular disease. The aim of this review is to present the hypothesized functional effects of the identified gene loci and environmental factors.
METHODS
A systematic literature review was performed using PubMed, MEDLINE and Embase. Medical subject headings terms used were: 'diverticular disease, diverticulosis, diverticulitis, genomics, genetics and epigenetics'. A review of grey literature identified environmental factors.
RESULTS
Of 995 articles identified, 59 articles met the inclusion criteria. Age, obesity and smoking are strongly associated environmental risk factors. Intrinsic factors of the colonic wall are associated with the presence of diverticula. Genetic pathways of interest and environmental risk factors were identified. The COLQ, FAM155A, PHGR1, ARHGAP15, S100A10, and TNFSF15 genes are the strongest candidates for further research.
CONCLUSION
There is increasing evidence to support the role of genomics in the spectrum of diverticular disease. Genomic, epigenetic and omic research with demographic context will help improve the understanding and management of this complex disease.
Topics: Humans; Risk Factors; Epigenesis, Genetic; Genetic Predisposition to Disease; Diverticular Diseases; Gene-Environment Interaction; Obesity
PubMed: 38831715
DOI: 10.1093/bjsopen/zrae032 -
Cureus May 2024Inverted colonic diverticulum (ICD) is an infrequent finding on colonoscopy, often misdiagnosed as colonic polyps. Further endoscopic intervention, such as polypectomy...
Inverted colonic diverticulum (ICD) is an infrequent finding on colonoscopy, often misdiagnosed as colonic polyps. Further endoscopic intervention, such as polypectomy or biopsy, may lead to colonic perforation. For that reason, the endoscopist should be aware of the possibility of detecting these lesions when performing a colonoscopy. Diagnosing an ICD can be confirmed by inspection and gentle eversion using the probe. In this case report, we present a patient who was found to have inverted colonic diverticulum as we highlight the importance of distinguishing it from colonic polyps in order to prevent severe complications.
PubMed: 38826976
DOI: 10.7759/cureus.59460 -
Cureus May 2024Being an uncommon and challenging disorder, acute aortic dissection (AAD) can have fatal outcomes in the event of missed diagnosis or treatment delay. AAD could easily...
Being an uncommon and challenging disorder, acute aortic dissection (AAD) can have fatal outcomes in the event of missed diagnosis or treatment delay. AAD could easily be misdiagnosed, as symptoms usually mimic other common clinical syndromes showing up in Accident and Emergency (A&E), including acute coronary syndrome (ACS), pericarditis, pulmonary embolism, acute abdomen, musculoskeletal pain, as well as presenting as heart failure, stroke, syncope, and absent peripheral pulses. We present a case of a 77-year-old female who presented to the medical decision unit with acute-onset chest, back, and abdominal pain that occurred on standing for six hours She was thought initially to have acute coronary syndrome based on electrocardiography (ECG) changes, troponin, a normal chest X-ray, and no blood pressure discrepancies in upper extremities. Due to worsening abdominal pain and a previous history of a perforated diverticulum, contrast computed tomography (CT) of the abdomen was arranged and this showed acute type B aortic dissection. By the time the CT was performed, the patient had been in hospital for 16 hours, almost 22 hours from the onset of pain.
PubMed: 38826924
DOI: 10.7759/cureus.59556 -
Journal of Surgical Case Reports May 2024Perforation of Meckel's diverticulum caused by heterotopic pancreas is a rare condition. Despite recent improvements in imaging studies, Meckel"'s diverticulitis and...
Perforation of Meckel's diverticulum caused by heterotopic pancreas is a rare condition. Despite recent improvements in imaging studies, Meckel"'s diverticulitis and heterotopic pancreas are difficult to diagnose preoperatively and are often diagnosed during autopsy or laparotomy. Symptomatic patients are typically >1 year, and cases of infants displaying symptoms are rarely reported. We report a rare case of heterotopic pancreas in Meckel's diverticulum causing perforation in an infant. In cases of infants presenting with unexplained acute abdominal pain, there should be a high index of suspicion for congenital gastrointestinal malformations. Prompt action in the form of exploratory laparotomy or laparoscopy is crucial to prevent the escalation of complications and to definitively confirm the diagnosis.
PubMed: 38826858
DOI: 10.1093/jscr/rjae375 -
International Journal of Surgery Case... Jul 2024Colocolic intussusception occur in less than 5 % of all cases of intussusception. Median age at presentation is 4.4 years. Usually presents with features of intestinal...
INTRODUCTION AND IMPORTANCE
Colocolic intussusception occur in less than 5 % of all cases of intussusception. Median age at presentation is 4.4 years. Usually presents with features of intestinal obstruction. Common causes include pathological lead points like juvenile polyps, Meckel's diverticulum and lymphoma. However, rarely occurs without an organic cause as presented in the index case.
CASE PRESENTATION
We present a case of colocolic intussusception in a 5-year-old boy with clinical evidence of blood-stained mucoid stools, abdominal distention and post prandial vomiting. CT-scan confirmed the clinical diagnosis. Surgical exploration revealed left-sided colocolic intussusception without a pathological lead point.
CLINICAL DISCUSSION
Most cases of colonic intussusception have a pathological lead point. Clinical features are unspecific but mostly present with intestinal obstruction, hence, a CT-scan aids in establishing the diagnosis.
CONCLUSION
Colocolic intussusception is a rare subtype of intussusception in the paediatric age group especially in the absence of a pathological lead point. This case report presents a rare case of colocolic intussusception without pathological lead point, highlighting the importance of advanced imaging modalities like CT-scan in establishing the diagnosis and guiding management.
PubMed: 38824742
DOI: 10.1016/j.ijscr.2024.109841 -
Frontiers in Medicine 2024Jejunal diverticulosis is a rare condition. Most of the time, it is asymptomatic; but it can cause severe complications such as intestinal perforation, mechanical... (Review)
Review
INTRODUCTION
Jejunal diverticulosis is a rare condition. Most of the time, it is asymptomatic; but it can cause severe complications such as intestinal perforation, mechanical occlusion, and hemorrhage.
CASE PRESENTATION
A patient aged 78 years, with a history of biological aortic valve prosthesis, atrial fibrillation, type 2 diabetes mellitus, and chronic obstructive pulmonary disease, presented in the emergency department for acute abdominal pain in the lower abdominal floor, nausea, and inappetence. Abdominal computed tomography revealed an inflammatory block in the hypogastrium, agglutinated small intestinal loops, fecal stasis, and air inclusions. Pulled mesentery and associated internal hernia are suspected. Exploratory laparotomy was performed, revealing an inflammatory block in the hypogastrium, whose dissection revealed inner purulent collection and the appearance of jejunal diverticulitis, a diagnosis confirmed by histopathological examination. Segmental resection of the jejunum with double-layer terminal-terminal enteroenteric anastomosis, lavage, and drainage was performed. The evolution was favorable.
CONCLUSION
Based on our brief review, the diagnosis of complicated jejunal diverticulosis is difficult and sometimes not accurately established, even by high-resolution imaging techniques, with diagnostic laparotomy being necessary for these situations. Surgical treatment should be considered before severe complications develop.
PubMed: 38818398
DOI: 10.3389/fmed.2024.1413254 -
Journal of Surgical Case Reports May 2024Appendiceal diverticulum is a rare condition that usually presents with symptoms similar to acute appendicitis. Although imaging can be used to aid the diagnosis of this...
Appendiceal diverticulum is a rare condition that usually presents with symptoms similar to acute appendicitis. Although imaging can be used to aid the diagnosis of this condition, it is usually confirmed postoperatively on the basis of histology. Because of an increased risk of appendiceal neoplasms, the usual management is prophylactic appendicectomy. We report the case of a 70-year-old lady with no symptoms referred from her GP surgery for a positive faecal immunochemical test as part of the bowel screening programme. Colonoscopy showed a mass at the appendiceal orifice with normal histology. She underwent an appendicectomy with a small cuff of caecal resection. The lesion was ~8 cm at its maximum dimension and showed appendiceal diverticulum. Appendiceal diverticulum is an important differential diagnosis to consider in patients with atypical history of acute appendicitis or positive faecal immunochemical test with no other symptoms.
PubMed: 38817791
DOI: 10.1093/jscr/rjae349 -
Annals of Pediatric Cardiology 2023Pentalogy of Cantrell is a rare congenital anomaly involving the anterior diaphragm, pericardium, sternum, peritoneum, and associated intracardiac defects. In this...
Pentalogy of Cantrell is a rare congenital anomaly involving the anterior diaphragm, pericardium, sternum, peritoneum, and associated intracardiac defects. In this report, we describe a neonate with pentalogy of Cantrell evaluated with multimodality imaging and successfully managed by a multidisciplinary team.
PubMed: 38817252
DOI: 10.4103/apc.apc_188_23 -
Cureus Apr 2024Intussusception is one of the most common causes of acute intestinal obstruction in infancy and early childhood. Most cases of intussusception tend to occur in infancy,...
Intussusception is one of the most common causes of acute intestinal obstruction in infancy and early childhood. Most cases of intussusception tend to occur in infancy, between the ages of four and six months. The causes can be split into two categories: non-pathologic and pathologic. Non-pathological causes include administration of the rotavirus vaccine, dehydration, and recent illness. Pathological causes can be attributed to Meckel's diverticulum (in 75% of cases), polyps (15%), and lymphoma or other tumors (3%). Intussusception rarely occurs in infants less than three months of age. If intussusception does occur in patients under three months of age, the cause is idiopathic in up to 75% of the cases. Additionally, myoglandular-type polyps are exceedingly rare and very rarely occur in patients under the age of 50. This case report discusses the diagnosis and treatment of intussusception in a two-month-old male patient who initially presented to the pediatric inpatient unit for dehydration secondary to a suspected viral illness, later developing colicky abdominal pain and bloody stools. He was found to have colo-colonic intussusception with a myoglandular-type polyp lead point. In discussing this case, the aim is to teach about intussusception and myoglandular-type polyps, as well as reveal a rarity in both etiologies for this age group.
PubMed: 38813337
DOI: 10.7759/cureus.59273 -
Cureus Apr 2024Intussusception is a prominent contributor to bowel obstruction, marked by the invagination of a proximal bowel section into a distal segment. Ileocecal intussusception...
Intussusception is a prominent contributor to bowel obstruction, marked by the invagination of a proximal bowel section into a distal segment. Ileocecal intussusception occurs when a portion of the terminal ileum folds into the cecum. In adults, intussusception is infrequent compared to pediatric cases, and represents a minority of bowel obstructions. Structural lead points are more commonly observed in adult intussusception compared to pediatric cases where risk factors include infection, Meckel's diverticulum, and intestinal polyps. Obstructions in adults are usually a result of benign or malignant neoplasms. In this particular case, a carcinoid tumor originating in the ileum acted as the structural lead point for intussusception. The patient underwent exploratory laparotomy resulting in a right hemicolectomy. This patient did not present with the classic triad of symptoms associated with carcinoid syndrome. In response to this particular case, a laparoscopic right-sided hemicolectomy with lymph node dissection was performed.
PubMed: 38813319
DOI: 10.7759/cureus.59308