Background: Helicobacter pylori is a widespread pathogen linked to gastritis, peptic ulcers, and gastric cancer. Increasing antimicrobial resistance is making eradication more difficult.                                                    .
Aim: To study how clinical symptoms, endoscopic and histopathological findings, bacterial density, and antimicrobial resistance patterns of H. pylori are related in Egyptian patients.                                                                         .
Methods: In our study, 100 treatment-naïve patients with gastrointestinal symptoms suggestive of H. pylori infection and positive stool antigen tests underwent endoscopy, gastric biopsy, histopathology, and culture with antimicrobial susceptibility testing. All patients received 14-day levofloxacin-based triple therapy. Treatment response was assessed clinically and by stool antigen testing.                                                               .  
Results: Epigastric pain was the most common symptom, reported by 83% of patients, followed by nausea and vomiting in 58%. Weight loss and pallor were less frequent, at 24% and 18%, respectively. Abnormal upper gastrointestinal endoscopy findings were present in 97% of patients, with 53% showing erosive or ulcerative lesions, indicating significant mucosal involvement. Higher H. pylori bacterial density was associated with gastric ulcers, erosions, mucosal atrophy, and duodenal lesions (p<0.001). Higher bacterial density was significantly associated with severe mucosal lesions and increased the risk of ulcerative disease, resulting in more severe epigastric pain and gastrointestinal bleeding. Histopathology revealed chronic inflammation in 95% of patients and active inflammation in 80%, indicating ongoing mucosal activity. Treatment failed in 43% of cases and was closely associated with higher bacterial density, confirming the impact of bacterial load on treatment outcomes. Antimicrobial testing showed high resistance to common first-line drugs, including amoxicillin (53.5%), clarithromycin (46.5%), and amoxicillin–clavulanic acid (50.7%). In contrast, meropenem, doxycycline, and rifampicin showed no detected resistance, indicating potential utility against infections with resistance.
Conclusion: Bacterial density is an important predictor of mucosal damage and treatment failure. The high rate of resistance to standard first-line antibiotics highlights the need for new treatment strategies and region-specific guidelines.

Background

Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by pathogenic variants in the ATP7B gene. Impaired biliary copper excretion leads to progressive accumulation in the liver, brain, and other organs. Despite prevalence estimates of 1:30,000 to 1:50,000, WD remains significantly underdiagnosed due to heterogeneous clinical manifestations and the absence of pathognomonic markers. This comprehensive review aimed to describe the current evidence on WD epidemiology, molecular pathogenesis, clinical manifestations, diagnostic strategies, and therapeutic approaches, with particular emphasis on neuropsychiatric presentations that contribute substantially to diagnostic delay and disability.

Methods

We searched PubMed/MEDLINE, EMBASE, and the Cochrane Library from inception to July 2025 using MeSH terms and free-text keywords including ‘Wilson disease’, ‘ATP7B’, ‘copper metabolism’, ‘neuropsychiatric manifestations’, ‘ceruloplasmin’, ‘exchangeable copper’, ‘relative exchangeable copper’, ‘liver biopsy’, and ‘chelation therapy’. Priority was given to systematic reviews, randomized trials, clinical guidelines (EASL-ERN 2025, AASLD 2022), and large prospective or retrospective cohort studies.

Results

Clinical presentations encompass hepatic dysfunction (40–60%), neurological syndromes (30–50%), psychiatric disturbances, and ophthalmological signs, with onset from childhood to adulthood. Diagnostic delay averages 22.5 months and reaches 65 months in patients presenting predominantly with psychiatric symptoms. Emerging biomarkers—particularly relative exchangeable copper (REC) with a validated diagnostic cut-off of 14% (sensitivity 95.6%, specificity 99.8%)—now supplement established biochemical tests. Early therapeutic intervention with copper-chelating agents or zinc therapy fundamentally alters the disease trajectory.

Conclusions

Early recognition and sustained treatment adherence remain paramount. Emerging diagnostic modalities—including REC, EASL-ERN 2025 guideline-endorsed algorithms, and advances in gene therapy—offer promise for improved patient outcomes.