Structural and Functional Impact of Adrenoceptor Beta-1 Gene Polymorphism in Patients with Hypertrophic Cardiomyopathy and Response to Beta-Blocker Therapy.

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a genetically inherited cardiac disorder with diverse clinical presentations. Adrenergic activity, primarily mediated through beta-adrenoceptors, plays a central role in the clinical course of HCM. Adrenergic stimulation increases cardiac contractility and heart rate through beta-1 adrenoceptor activation. Beta-blocker drugs are recommended as the primary treatment for symptomatic HCM patients to mitigate these effects. METHODS: This prospective study aimed to investigate the impact of common ADRB-1 gene polymorphisms, specifically serine-glycine at position 49 and arginine-glycine at position 389, on the clinical and structural aspects of HCM. Additionally, the study explored the association between these genetic variations and the response to beta-blocker therapy in HCM patients. RESULTS: A cohort of 147 HCM patients was enrolled, and comprehensive assessments were performed. The findings revealed that the Ser49Gly polymorphism significantly influenced ventricular ectopic beats, with beta-blocker therapy effectively reducing them in Ser49 homozygous patients. Moreover, natriuretic peptide levels decreased, particularly in Ser49 homozygotes, indicating improved cardiac function. Left ventricular outflow obstruction, a hallmark of HCM, was also reduced following beta-blocker treatment in all patient groups. In contrast, the Arg389Gly polymorphism did not significantly impact baseline parameters or beta-blocker response. CONCLUSION: These results emphasize the role of the Ser49Gly polymorphism in the ADRB-1 gene in shaping the clinical course and response to beta-blocker therapy in HCM patients. This insight may enable a more personalized approach to managing HCM by considering genetic factors in treatment decisions. Further research with larger populations and longer follow-up periods is needed to confirm and expand upon these findings.

Brain white matter microstructural alterations in Behcet's syndrome correlate with cognitive impairment and disease severity: A diffusion tensor imaging study.

OBJECTIVES: To evaluate the microstructural integrity of brain white matter tracts in patients with Neuro-Behcet's syndrome (NBS) and Behcet's syndrome (BS) without neurological manifestations using diffusion tensor imaging (DTI) and to investigate potential utility of DTI as a surrogate biomarker of neurocognitive functioning and disease severity. METHODS: This cross-sectional study comprised 34 NBS patients and 32 BS patients without neurological involvement, identified based on the International Study Group of the Behcet's disease (ISGBD) and the International Consensus Recommendation (ICR) criteria, as well as 33 healthy controls. Cognitive functions, including attention, memory, language, abstraction, executive control, visuospatial skills, and sensorimotor performance were assessed using standardized questionnaires. DTI data were analyzed using tract-based spatial statistics (TBSS) and automated probabilistic tractography to investigate inter-group differences. Subsequently, correlations between tensor-derived parameters of white matter tracts, neurocognitive test scores, and disease severity measures were examined. RESULTS: DTI revealed decreased fractional anisotropy and increased radial diffusivity, mean diffusivity, and axial diffusivity in both supratentorial and infratentorial white matter in NBS patients, indicating widespread loss of microstructural integrity. Moreover, this loss of integrity was also observed in BS patients without neurological manifestations, albeit to a lesser extent. In NBS patients, certain white matter tracts, including cingulum bundle, were associated with poor cognitive performance across multiple domains and disease severity. DISCUSSION: DTI findings might potentially serve as a neuroimaging marker to predict the extent of neurocognitive impairment and disease severity associated with central nervous system involvement in BS.

A Rare Cause of Breast Swelling in Lactating Women: Aquafilling® Gel Injection.

Aquafilling® gel has been used in recent years as an alternative method to breast augmentation surgery. In this case report, we aimed to discuss radiological imaging findings and complications of Aquafilling® gel injection. Case: A 34-year-old lactating female patient presented with swelling and pain in the left breast. Ultrasonography showed massive septate fluid collections with dense content in both breasts and between the pectoral muscle fibers. On mammography, both breasts appeared dense with large mass opacities. On magnetic resonance imaging, extensive fluid-signal cystic areas were observed. Peripheral enhancement around the fluid in the left breast was present in the contrast-enhanced series. We learned from her anamnesis that Aquafilling® was applied to both breasts 5 years ago. Ultrasonography-guided sampling was performed from the cystic areas in the left breast and cytological examination revealed basophilic Aquafilling® material surrounded by diffuse inflammatory infiltrates. Breast augmentation history should be questioned in suspicious cases because Aquafilling® gel injection and its complications can present with a wide variety of symptoms and may mimic various other conditions on radiological imaging, such as cancer, abscess, granulomatous mastitis, and parasite infections.