Biomedical subjects

Ahmed Mahfouz

Publications and source records attributed to Ahmed Mahfouz.

3 recordsLinked to original sources

PubMed2026

Disseminated meningococcal infection presenting with constrictive pericarditis and bilateral septic arthritis without meningitis: A case report.

Invasive meningococcal disease is a life-threatening infection that classically presents as meningitis or meningococcemia. Extra-meningeal manifestations, including pericarditis and septic arthritis, are uncommon and may complicate diagnosis, particularly in the absence of meningeal involvement. A previously healthy vaccinated man in his 50s presented with acute bilateral knee pain and swelling following a short history of fever, productive cough, fatigue, and dyspnea. Blood cultures grew Neisseria meningitidis serogroup W, whereas cerebrospinal fluid, synovial fluid, and pericardial fluid cultures remained negative. Cardiac magnetic resonance imaging demonstrated constrictive pericarditis with circumferential pericardial enhancement and pericardial effusion. The patient was successfully treated with intravenous ceftriaxone, colchicine, ibuprofen, pericardiocentesis, and bilateral knee washout, followed by oral ciprofloxacin. This case adds to the limited literature describing concurrent cardiac and musculoskeletal manifestations of invasive meningococcal disease without meningitis and shows the importance of early recognition, comprehensive investigation and multidisciplinary management of these uncommon presentations.

Neisseria meningitidis↗

PubMed2026

Beyond benchmarking: an expert-guided consensus approach to spatially aware clustering.

Spatial omics technologies have revolutionized the study of tissue architecture and cellular heterogeneity by integrating molecular profiles with spatial localization. In spatially resolved transcriptomics, delineating higher-order anatomical structures is critical for understanding how cellular organization affects function. However, the reliability of current benchmarks of spatially aware clustering (SAC) methods is undermined by their narrow focus on Visium and brain tissue datasets and the incorrect interpretation of manual annotation as ground truth. Here we present SACCELERATOR, a community-driven, extensible framework that standardizes data formatting, method integration and metric evaluation, enabling rapid inclusion of new methods and datasets. Our analysis revealed substantial limitations in the generalizability and reproducibility of SAC methods and shows that anatomical labels commonly used as ground truths are often biased, error prone and unsuitable for benchmarking. Rather than ranking methods, we propose a consensus-guided workflow where descriptive spatial metrics highlight high-entropy regions of method disagreement, enabling targeted feedback for tissue experts. Applied to brain and cancer datasets, this approach uncovered biologically meaningful patterns overlooked by individual SAC methods and manual annotations, highlighting the need for iterative, expert-in-the-loop evaluation.

Benchmarking↗

PubMed2016

Gene co-expression analysis identifies brain regions and cell types involved in migraine pathophysiology: a GWAS-based study using the Allen Human Brain Atlas.

Migraine is a common disabling neurovascular brain disorder typically characterised by attacks of severe headache and associated with autonomic and neurological symptoms. Migraine is caused by an interplay of genetic and environmental factors. Genome-wide association studies (GWAS) have identified over a dozen genetic loci associated with migraine. Here, we integrated migraine GWAS data with high-resolution spatial gene expression data of normal adult brains from the Allen Human Brain Atlas to identify specific brain regions and molecular pathways that are possibly involved in migraine pathophysiology. To this end, we used two complementary methods. In GWAS data from 23,285 migraine cases and 95,425 controls, we first studied modules of co-expressed genes that were calculated based on human brain expression data for enrichment of genes that showed association with migraine. Enrichment of a migraine GWAS signal was found for five modules that suggest involvement in migraine pathophysiology of: (i) neurotransmission, protein catabolism and mitochondria in the cortex; (ii) transcription regulation in the cortex and cerebellum; and (iii) oligodendrocytes and mitochondria in subcortical areas. Second, we used the high-confidence genes from the migraine GWAS as a basis to construct local migraine-related co-expression gene networks. Signatures of all brain regions and pathways that were prominent in the first method also surfaced in the second method, thus providing support that these brain regions and pathways are indeed involved in migraine pathophysiology.

Atlases as Topic↗