Medicina
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Porokeratoses represent a rare group of skin diseases characterized by abnormal keratinization. The condition may have a genetic background and can be triggered by environmental factors, including UV exposure and infections. Several clinical variants of porokeratosis can be distinguished, including Mibelli's porokeratosis, disseminated superficial actinic porokeratosis, superficial disseminated porokeratosis, and porokeratosis palmaris plantaris et disseminata. ⋯ Various treatment options are available, including topical combination therapy with cholesterol and statins, topical retinoids, cryotherapy, laser therapy, and surgical excision of lesions, but none are fully effective. The success of these treatments can vary significantly based on the specific type of porokeratosis and individual patient characteristics, with many outcomes falling short of expectations. Since the disease is considered a precancerous condition, patients with porokeratosis should remain under regular dermatological control.
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Background and Objectives: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH; OMIM 238970) is one of the rare urea cycle disorders. Ornithine carrier 1 deficiency causes HHH syndrome, characterized by failure of mitochondrial ornithine uptake, hyperammonemia, and accumulation of ornithine and lysine in the cytoplasm. The initial presentation and time of diagnosis in HHH highly varies. ⋯ The latter variant has yet to be reported in the literature on HHH patients. After intervention with a protein-restricted diet, ammonia-reducing therapy, and L-carnitine supplementation, hyperammonemia was not observed, and liver enzyme levels returned to normal. Conclusions: Our results highlighted the clinical and biochemical heterogeneity of HHH syndrome and posed that HHH syndrome should be considered when individuals have hyperammonemia, elevated transaminase, and decreased prothrombin time.
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Background and Objectives: Obesity-related chronic inflammation may lead to neuroinflammation and neurodegeneration. This study aimed to evaluate the neurometabolic profile of obese patients using cerebral multivoxel magnetic resonance spectroscopy (mvMRS) and assess correlations between brain metabolites and obesity markers, including body mass index (BMI), waist circumference, waist-hip ratio, body fat percentage, and indicators of metabolic syndrome (e.g., triglycerides, HDL cholesterol, fasting blood glucose, insulin, and insulin resistance index (HOMA-IR)). Materials and Methods: This prospective study involved 100 participants, stratified into two groups: 50 obese individuals (BMI ≥ 30 kg/m2) and 50 controls (18.5 ≤ BMI < 25 kg/m2). ⋯ NAA levels showed negative correlations with more reliable obesity parameters (waist circumference and waist-to-hip ratio) but not with BMI, particularly in the deep frontal white matter and dorsal anterior cingulate gyrus of the left cerebral hemisphere. Notably, insulin demonstrated a significant negative impact on NAA (ρ = -0.409 and ρ = -0.410; p < 0.01) and Cho levels (ρ = -0.403 and ρ = -0.392; p < 0.01) at these locations in obese individuals. Conclusions: Central obesity and hyperinsulinemia negatively affect specific brain regions associated with cognitive and emotional processing, while BMI is not a reliable parameter for assessing brain metabolism.
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Background and Objectives: Gestational diabetes mellitus (GDM) is one of the most common medical conditions in pregnancy, with adverse effects on maternal and neonatal outcomes. Evidence suggests a beneficial effect of plant-based dietary patterns, rich in foods derived from plant sources and low in animal foods, on type 2 diabetes; however, their effects on GDM remain unclear. We aimed to investigate the association between pre-pregnancy provegetarian food patterns and the incidence of GDM in a Spanish cohort. ⋯ Q1: 1.77 (1.07, 2.94); p-trend = 0.082], respectively. Conclusions: Higher pre-pregnancy consumption of a provegetarian food pattern was associated with a lower risk of developing GDM in Spanish women. Further studies are needed to confirm these findings.
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Observational Study
Exploring the Relationship Between Lipoprotein (a) Level and Myocardial Infarction Risk: An Observational Study.
Background and Objectives: This observational study investigates the relationship between Lipoprotein (a) (Lp(a)) levels and the risk of acute myocardial infarction (AMI). This study aims to highlight the association of elevated Lipoprotein (a) levels with an increased atherogenic profile and the potential risk of AMI. Materials and Methods: We conducted a case-control study involving 106 individuals, including 64 AMI patients (both STEMI and NSTEMI) and 42 healthy controls. ⋯ Conclusions: Lp(a) is a significant independent risk factor for acute myocardial infarction; therefore, screening for Lp(a) levels can help identify high-risk individuals beyond traditional markers. Therapeutic approaches targeting Lp(a) may reduce AMI incidence. Future research should explore how Lp(a) promotes atherosclerosis and assess Lp(a)-lowering therapies to improve patient outcomes.