Esteban Artunduaga-Cañas

A hiper-homocisteinemia (HHcy) e o polimorfismo C677T do gene da metilenotetrahidrofolato redutase (MTHFR) têm sido investigados como potenciais contribuintes para eventos trombóticos, incluindo em pacientes com doença cardiovascular prematura. Apresentar um caso que ilustra a ligação entre a heterozigose para MTHFR C677T e a hiper-homocisteinemia na trombose arterial recorrente, e enfatizar a relevância clínica da triagem genética e do manejo direcionado. Este estudo de caso observacional e transversal detalha o caso de um paciente do sexo masculino de 44 anos com doença arterial coronariana prematura, que foi submetido a múltiplas intervenções percutâneas e apresentou trombose arterial recorrente. O teste genético confirmou a heterozigose para o polimorfismo MTHFR C677T e hiper-homocisteinemia. O teste genético revelou heterozigose para MTHFR C677T e hiper-homocisteinemia (18,6 µmol/L). Após a intervenção, a estabilização clínica foi alcançada em seis meses, com os níveis de homocisteína reduzindo para 10,2 µmol/L e sem a ocorrência de novos eventos trombóticos. Este caso ilustra o contexto clínico no qual a heterozigose para MTHFR C677T e a hiper homocisteinemia podem ser identificadas em um paciente com doença trombótica prematura e recorrente. Este caso destaca a potencial relevância de considerar fatores genéticos e metabólicos em pacientes selecionados com doença trombótica prematura ou recorrente.

Hyperhomocysteinemia (HHcy) and the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism have been investigated as potential contributors to thrombotic events, including in patients with premature cardiovascular disease. To present a case that illustrates the link between MTHFR C677T heterozygosity and hyperhomocysteinemia in recurrent arterial thrombosis, and to emphasise the clinical relevance of genetic screening and targeted management. This observational, cross-sectional, case study details the case of a 44-year-old male patient with premature coronary artery disease, who has undergone multiple percutaneous interventions and experienced recurrent arterial thrombosis. Genetic testing confirmed heterozygosity for the MTHFR C677T polymorphism and hyperhomocysteinaemia. Genetic testing revealed MTHFR C677T heterozygosity and hyperhomocysteinemia (18.6 µmolL-1). Following intervention, clinical stabilisation was achieved within six months, with homocysteine levels reducing to 10.2 µmolL-1 and no new thrombotic events occurring. This case illustrates the clinical context in which MTHFR C677T heterozygosity and hyperhomocysteinemia may be identified in a patient with premature and recurrent thrombotic disease. This case highlights the potential relevance of considering genetic and metabolic factors in selected patients with premature or recurrent thrombotic disease.

Central nervous system (CNS) cryptococcosis caused by Cryptococcus neoformans is a severe opportunistic infection that primarily affects individuals with impaired cellular immunity. Although the classic presentation includes headache, fever, and meningeal signs, chronically immunosuppressed patients may develop atypical neuropsychiatric manifestations, leading to diagnostic delays. We report the case of a 53-year-old man with rheumatoid arthritis (RA) receiving long-term prednisolone and etanercept therapy, who presented with a 7-day history of depressive mood, anhedonia, social withdrawal, irritability, and progressive confusion. Neurological examination revealed disorientation without focal deficits. Brain imaging showed only mild cortical atrophy, and cerebrospinal fluid (CSF) analysis revealed lymphocytic pleocytosis, low glucose, and elevated protein levels. Multiplex PCR (FilmArray^®) of CSF identified Cryptococcus neoformans, CSF positive to C. neoformans. The patient was treated with liposomal amphotericin B followed by fluconazole, resulting in gradual improvement of both neurological and psychiatric symptoms. This case highlights an unusual presentation of CNS cryptococcosis in a non-HIV immunosuppressed patient with RA, emphasizing that acute psychiatric or cognitive changes can be the predominant manifestation. Clinicians should consider fungal infections in the differential diagnosis of acute neuropsychiatric symptoms in patients receiving chronic corticosteroid and biologic therapy. Early recognition and molecular diagnosis can facilitate timely antifungal treatment, potentially improving prognosis and reducing morbidity associated with delayed therapy. This report underscores the importance of awareness of atypical presentations of opportunistic infections in immunosuppressed populations.

Inflammatory dermatological diseases represent a significant global health burden, with emerging evidence suggesting that modulation of the gut–skin axis microbial interventions may offer therapeutic benefits. However, current evidence is fragmented, with considerable heterogeneity limiting definitive conclusions. A systematic review and a meta-analysis were conducted following PRISMA guidelines, registered in PROSPERO (CRD42024629809). Seven databases were searched for randomized controlled trials evaluating probiotics, synbiotics, or postbiotics in inflammatory skin conditions. Primary outcomes included disease severity scores (SCORAD for atopic dermatitis, PASI for psoriasis). Statistical analysis employed random-effect models with standardized mean differences (SMDs) and Hedges’ g as effect size measures, using R software. Heterogeneity among studies was assessed using Q statistics and the I² index. Results: In total, 19 studies encompassing 1104 participants met the inclusion criteria. For atopic dermatitis, a meta-analysis of 12 studies (n = 817) demonstrated significant clinical improvement with microbial interventions versus placebo (SMD = −0.72; 95% CI: −1.26 to −0.17; p = 0.015), though substantial heterogeneity in the treatment effects was observed across studies (I² = 85.1%). The psoriasis results were more variable, with five studies (n = 287) showing non-significant pooled effects (SMD = −0.63; 95% CI: −1.74 to 0.48; p = 0.192). Multi-strain formulations and synbiotic combinations appeared to show greater efficacy compared to single-strain preparations. Safety profiles remained consistently favorable across all interventions. Microbial interventions represent a promising adjunctive therapeutic approach for inflammatory dermatological diseases, particularly atopic dermatitis, acting via gut–skin axis mechanisms. The substantial heterogeneity between the included studies emphasizes the need for standardized protocols and personalized medicine approaches integrating microbiome profiling to optimize clinical outcomes.

Background: Urinary tract infections represent a significant healthcare burden, particularly among vulnerable patients with chronic comorbidities. In this case report, we describe a UTI caused by Kluyvera ascorbata exhibiting an AmpC resistance pattern in an 85-year-old male with stage IV chronic kidney disease and a history of ESBL-positive infection. Methods: A comprehensive diagnostic workup was performed, including clinical evaluation, laboratory tests (urinalysis, complete blood count, renal function tests), and microbiological cultures with antibiogram analysis using the MicroScan WalkAway (Beckman Coulter, Brea, United States) and VITEK2 Compact systems (bioMérieux, Marcy L’Étoile or Craponne, France). Results: The initial urine culture revealed a Gram-negative bacillus and subsequent identification confirmed K. ascorbata, which demonstrated resistance to ampicillin and cefazolin while remaining susceptible to meropenem. The patient received intravenous meropenem therapy for 10 days, resulting in clinical improvement and a subsequent negative urine culture. Conclusions: This case reports a complicated urinary tract infection caused by K. ascorbata with an AmpC resistance pattern, highlighting the importance of considering this infrequently reported pathogen and its resistance profile in vulnerable patients. Its multidrug-resistant profile underscores the necessity for vigilant antimicrobial stewardship and further research to develop standardized treatment protocols for managing infections caused by this organism.

Mesenteric ischemia is a serious complication that can occur after splenectomy for hemolytic anemia, potentially leading to lifelong intestinal problems such as ischemia and/or portal hypertension. We present the case of a 33-year-old man with a history of autoimmune hemolytic anemia and splenectomy who developed mesenteric ischemia. The patient experienced abdominal pain and diarrhea, and imaging studies revealed mesenteric vein thrombosis. Surgical intervention confirmed the diagnosis. This case significantly contributes to the existing literature by providing insights into the occurrence of mesenteric ischemia in younger individuals with predisposing factors, as well as its clinical presentation, diagnostic challenges, and severity. Moreover, it has implications for the future diagnosis and management of long-term mesenteric ischemia in patients who have undergone splenectomy for hemolytic anemia.