A Case Report and Literature Review of Rectosigmoid Crohn's Disease: A Diagnostic Pitfall Ultimately Leading to Spontaneous Colonic Perforation.

Inflammatory bowel disease (IBD) is a chronic condition that affects the gastrointestinal tract, with ulcerative colitis (UC) and Crohn's disease (CD) as the two major entities. While these conditions share some similarities in clinical presentation, they have distinct histopathological features. UC is a mucosal disease affecting the left colon and rectum, while CD can affect any part of the gastrointestinal tract and all layers of the bowel wall. Accurate diagnosis of UC and CD is important for effective management and prevention of complications. However, distinguishing between the two conditions based on limited biopsy specimens or atypical clinical presentations can be challenging. We present a case of a patient diagnosed with UC based on a single endoscopic biopsy from the sigmoid colon, who later presented with colonic perforation and was found to have CD on the colectomy specimen. This case emphasizes the importance of clinical guidelines when dealing with any patient of suspected IBD, considering alternative diagnoses in patients with atypical presentations and the need for careful clinical, endoscopic, and histological evaluation to make an accurate diagnosis. Delayed or missed diagnosis of CD can lead to significant morbidity and mortality.

The Effect of High Altitude on Short-Term Outcomes of Post-hemorrhoidectomy.

Background Hemorrhoids are caused by the distal displacement of the hemorrhoidal cushions and venous distention. Hemorrhoidal illness is still a prevalent issue. Hemorrhoidal symptoms affect 5% of the general population and 50% of people over the age of 50. Surgical therapy ensures satisfactory results that are much better than those obtained with conservative treatments, particularly for grade III and IV hemorrhoids. Objectives This study aims to compare postoperative complications of hemorrhoidectomy among patients who live in a high-altitude region (Taif) and a sea-level (low-altitude level) region (Jeddah). Methods This retrospective study was conducted among patients who underwent hemorrhoidectomy between January 2019 and January 2022 in Taif and Jeddah, Saudi Arabia. Simple random sampling was used to select the study population, and data were collected from patient files. Data analysis was conducted using IBM SPSS Statistics for Windows, version 23.0 (IBM Corp., Armonk, NY). Results A total of 135 patients were included in this study. Most of our patients were males (73.3%). Patients from Jeddah represented more than half of the study population, and 45.2% were from Taif. The majority of low-altitude area patients require less than a week to return to normal activities (54.1%), whereas the majority of high-altitude area patients (59%) require more than a week (P = 0.047). 94.1% of participants felt pain on Day 1, and 54.1% had pain on Day 7. According to our findings, approximately one-fourth of patients (25.2%) developed recurrent hemorrhoids, and 27.4% experienced recurrent hemorrhoid symptoms. When we compared low-altitude regions and high-altitude regions in postoperative complications of hemorrhoidectomy, we found that urinary retention was most common in the high-altitude regions (37.7%). Conclusion Our results found that urinary retention was the most common complication in the high-altitude region. Early return to regular activity with less postoperative pain on Day 7 was a significant finding among low-altitude area patients.

Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family.

BACKGROUND: Xeroderma pigmentosum (XP) is a rare genetic disorder, which is characterized by hyper-sensitivity to solar ultraviolet (UV) radiation. Clinical consequences of sun exposure are skin lesions and an increased risk of developing skin cancer. Genetic studies have identified eight genes associated with xeroderma pigmentosum. The proteins encoded by these genes are mainly involved in DNA repair mechanisms. METHODS: Molecular genetic characterization of patients with xeroderma pigmentosum involved positional cloning methods such as homozygosity mapping and subsequent candidate gene analysis. Mutation screening was performed through Sanger DNA sequencing. RESULTS AND DISCUSSION: In this case study, we report a novel protein truncating mutation in XPC associated with autosomal recessive xeroderma pigmentosum in a consanguineous Pakistani family. Genetic mapping revealed a novel single base insertion of a thymine nucleotide NM_004628.4: c.291dupT (c.291_292insT) in the second exon of XPC. The identified mutation leads to a premature stop codon (TGA) at amino acid position 98 (p.Asp98*) and thus presumably results in a truncated protein. The Xeroderma pigmentosum, complementation group C (XPC) is located on 3p25.1 and encodes a protein involved in nucleotide excision repair. The identified mutation presumably truncates all functional domains of the XPC protein, which likely results in the loss of protein function. CONCLUSION: The study expands the knowledge of the mutational spectrum of XPC and is valuable for genetic counseling of affected individuals and their families.