Category Archives: Number

The genetic landscape of early and late-onset Alzheimer’s disease: A review

DOI: 10.2478/amma-2024-0030

Alzheimer’s disease(AD) is a multifactorial neurodegenerative disorder characterized by the progressive loss of neurons and synaptic dysfunction, primarily affecting the cortex and hippocampus. The etiology of AD is complex, involving the continuous and intricate interaction between genetic and non-genetic environmental factors. Genetic predisposition plays a significant role, with approximately 60-80% of AD risk attributed to hereditary factors. Familial early-onset AD(EOAD), with autosomal-dominant mutations in APP, PSEN1, and PSEN2, represents about 1-5% of cases and typically manifests before age 65. Rare autosomal-recessive mutations, like A673V(APP gene), are also implicated. Late-onset AD(LOAD), more common, is influenced by a combination of genetic and environmental factors, with the APOE ε4 allele being a major risk factor. Protective factors, such as the APOE ε2 allele and rare mutations like Ala673Thr, can reduce AD risk. The interplay between genetic variants, environmental influences, and pathological processes underpins the disease’s progression. This study highlights the importance of understanding the genetic and non-genetic determinants of AD to advance personalized treatment and early detection strategies. Future research and personalized medicine approaches are essential for mitigating AD risks and improving management outcomes.

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Predictors of mortality in patients with early versus late onset of septic shock. A prospective, observational and comparative pilot study

DOI: 10.2478/amma-2024-0027

Introduction: Outcome and predictors of early- and late-onset septic shock are still controversial. The aim of the study was to compare the relevant predictors of 28-day mortality in early- and late-onset septic shock and other non-septic critical illnesses.
Material and Methods: We conducted a prospective, observational, pilot study. A group of 46 patients with early septic shock and 42 non-septic critically ill patients from the emergency department and 56 patients with late septic shock from the hospital were enrolled. On admission to the ICU, the most important potential predictors of 28-day mortality were assessed.
Results: In terms of predicting 28-day mortality, a higher mNUTRIC score was the only common predictor for all three groups. Multi-drug resistant (MDR) bacterial aetiology was a common predictor in both forms of septic shock. Older age, female gender, increased neutrophil-to-lymphocyte ratio (NLR) and increased need for vasoactive agents were common predictors in late septic shock and non-septic critically ill patients. Increased red blood cell distribution width coefficient of variation (RDW-CV) was predictor in early septic shock and non-septic critically ill patients. Central venous-arterial carbon dioxide difference (Pcv-aCO2) was predictor in patients with early septic shock. Inflammatory index and MDR carrier status were predictors in non-septic critically ill patients.
Conclusions:A higher mNUTRIC score is a predictor of 28-day mortality in early and late septic shock and in critically ill non-septic patients. MDR aetiology was predictive of 28-day all-cause mortality in both types of septic shock, and Pcv-aCO2 was predictive in patients with early septic shock.

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Allergic contact dermatitis and periorbital oedema after permanent eyelash dye

DOI: 10.2478/amma-2024-0029

Allergic contact dermatitis is a rare cause of emergency room visits. However, it can progress to life-threatening conditions such as urticaria and angioedema. In this report, we describe a case that developed severe allergic contact dermatitis around the eye applying an eyelash dye containing p-Phenylenediamine. A 21-year-old female patient was admitted to the emergency department with the complaint of swelling and redness around both eyes. Swelling and redness started 3 days ago with permanent eyelash dye (containing p-Phenylenediamine) application in the beauty center. Clinically, periocular edema and rash was suspected to be an allergic reaction to a substance contained in the eyelash dye. For allergic contact dermatitis, 40 mg methylprednisolone, 45.5 mg pheniramine maleate, IV bolus was administered. The vesicular rash was thought to be a herpes lesion. She was discharged from the emergency department, with an initial dose of 16 mg methyl prednisolone (discontinued by reducing the dose), 500 mg oral valacyclovir twice a day, mupirocin cream on twice a day and oral levocetrizine 5 mg once daily. It was observed that the patient’s lesions and redness regressed after 2 weeks. The effects of cosmetic products, which are the agents that come into contact with the skin most often, may differ individually. Agents included in cosmetic products, such as in our case, may cause severe contact dermatitis that requires treatment. Beauticians should also be informed about PPD. Patients who have had allergic reactions due to the use of PPD-containing dyes should use PPD-free cosmetic products.

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Helicobacter pylori and autoimmunity in atrophic gastritis – comparison of clinical, endoscopic and histopathological features

DOI: 10.2478/amma-2024-0028

Objective: This study aims to investigate the clinical, endoscopic, biologic and histopathological differences between Helicobacter pylori-associated and autoimmune gastric atrophy.
Methods: A retrospective analysis was conducted on 95 patients diagnosed with either H. pylori-related corporal and antral atrophy (43 patients) or autoimmune corporal atrophic gastritis (52 patients).
Results: A significant male predisposition for H. pylori-associated atrophic changes in both the antrum and corpus regions (p=0.007, OR=3.24) was observed in comparison with autoimmune etiology of atrophy. While comorbidities and lifestyle factors showed similar distributions across groups, only unintentional self-reported weight loss demonstrated a significant association with H. pylori atrophy (p=0.0177, OR=3.94). Corporal erosions were strongly associated with antral and corporeal atrophic gastritis (p=0.04, OR=8.27), but the rest of mucosal lesions are comparable among groups. Interestingly, patients with H. pylori-related pangastric atrophy exhibited lower frequencies of altered triglyceride (p=0.018) and cholesterol (p=0.029) levels compared to the autoimmune group. Linear regression analysis identified low triglyceride levels as an independent predictor for H. pylori-associated antral and corporal atrophic gastritis (p=0.04) in endoscopic population with atrophy, but no hematological or clinical parameters were predictive for these changes.
Conclusions: Male patients are more likely to present with corpus atrophic gastritis associated with H. pylori infection than with an autoimmune etiology. Patients with atrophic gastritis tend to have similar clinical characteristics, except for dyslipidemia, which is more prevalent in those with H. pylori pangastritis. Corporal erosions are associated with active H. pylori infection in atrophic mucosa.

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Determination of caffeine by micellar electrokinetic chromatography in different beverages

DOI: 10.2478/amma-2024-0026

A fast, simple and cost-effective capillary electrophoresis (CE) method was developed for caffeine determination in different beverages (energy drinks, soft drinks). Because caffeine is neutral from electrophoretic point of view and migrates with the electroosmotic flow (EOF), micellar electrokinetic chromatography (MEKC) was chosen as the separation method. The optimum separation conditions consisted of 25 mM sodium tetraborate, 100 mM sodium dodecyl sulphate, pH 9.30, 20°C temperature, 20 kV voltage, 50 mbar/sec hydrodynamic injection, UV detection at 270 nm. Employing the optimized conditions caffeine was quantified in less than 3 minutes. The analytical performances of the method were verified in terms of accuracy, linearity, limit of detection and quantification, precision and robustness. The method was applied also to detect caffeine in coffee and tea. The advantage of MEKC over other analytical methods, particularly compared with the more frequently used HPLC methods, lies in its lower operating costs and higher environmental friendliness.

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Identification and expression of microRNA-34a-3p and its target Rapamycin-insensitive companion of mTOR (RICTOR) in polycystic ovarian syndrome in South Indian population

DOI: 10.2478/amma-2024-0025

Objectives: Polycystic Ovarian Syndrome (PCOS) is a complex condition affecting 4% to 26% of the world-wide population and is characterized by enlarged ovaries and cysts. These cysts are actually immature ovarian follicles that have failed to mature and release an egg, which is a process known as anovulation. This study aims to explore the potential of miRNA as therapeutic and diagnostic biomarkers for PCOS, focusing on the identification and expression analysis of novel candidates like miR-34a-3p and its target Rapamycin-insensitive companion of mTOR (RICTOR). The objective is to enhance our understanding of the molecular mechanisms associated with PCOS, particularly the roles of miRNAs in its pathogenesis. In future, we plan to test miR-34a-3p mimics/inhibitors and RICTOR downregulation to improve insulin sensitivity and ovarian function. We will also explore combined therapies and conduct trials to assess their efficacy and safety in PCOS patients, aiming to develop practical treatments for PCOS.
Methods: National Centre for Biotechnology Information (NCBI) database, TargetScan, and miRbase were explored to identify the novel miRNA candidates, resulting in the discovery of miR-34a-3p. Secondary structure was constructed using RNA Fold, and Ct and melt curve analysis assessed its statistical expression levels. Additionally, similar research was conducted to analyze the expression levels of RICTOR, a target of miR-34a-3p.
Result: The secondary structure showed miR-34a-3p has a minimum free energy of -47.20 kcal. Additionally shows dysregulation in both miR-34a-3p and RICTOR in individuals with PCOS. Furthermore, overexpression of RICTOR and decrease in miR-34a-3p levels suggest their possible role in the pathogenesis of PCOS.
Conclusion: In PCOS, miR-34a-3p is downregulated, and there’s an inverse relationship between miR-34a-3p and RICTOR levels. qRT-PCR results showed high RICTOR expression in PCOS patients. RICTOR plays a crucial role in the mTOR pathway, affecting insulin signaling, metabolism, and cellular growth, which are all implicated in PCOS.

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Surgical procedure for acellular vascular xenografts testing in sheep carotid artery

DOI: 10.2478/amma-2024-0024

Objective: The objective of this study is to demonstrate the safety and reproducibility of our surgical technique for implanting decellularized vascular xenografts in the carotid artery of sheep.
Methods: Acellular porcine carotid arteries were implanted as interposition xenografts in seven sheep. An intravascular shunt was used for cerebral protection, and a flowmeter was utilized to assess graft performance.
Results: There were no intraoperative deaths or postoperative neurological complications observed. Acute graft thrombosis occurred in one sheep during surgery, but was successfully managed with thrombectomy to restore blood flow. Post-implantation flowmetry and Doppler ultrasound confirmed graft functionality.
Conclusions: Our study demonstrates the successful application of our surgical method for implanting decellularized vascular xenografts in the carotid artery of sheep. The implanted grafts maintained patency, normal blood flow, and favorable wound healing and neurological outcomes post-surgery.

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Qualitative phytochemical screening and in vitro antioxidant activities of aqueous extracts of Rhaphiolepis bibas (Lour.) Galasso & Banfi

DOI: 10.2478/amma-2024-0022

Reactive oxygen species causes harm to cell membranes and biomolecules, wherefore chronic diseases develop. Antioxidants scavenge such free radicals combating oxidative stress. This research aimed to determine the antioxidant potential of the aqueous stem bark, root and leaf extracts of Rhaphiolepis bibas against standards. DPPH radical scavenging activity was high from th stem bark extract at 72.33% with root extract at 65.85% and leaf extract at 55.91%, while ascorbic acid scavenged 89.53% of DPPH radicals. The leaf extract had the highest H2O2 scavenging activity of 91.92% with stem bark at 91.17% and the root extracts at 89.12%. The aqueous root extract of R. bibas had a significantly higher FRAP capacity in comparison to the leaf extracts and the stem bark. The abilities to chelate iron by the leaf extract were statistically higher compared to the root and stem bark extracts. Stem bark extracts had the highest phenol content of about 149.44 followed by the root extract at 141.14 and the least amount of phenol was found in the aqueous leaf extract having 73.012 Gallic acid equivalent/g. The root extracts had the highest total flavonoid 377.66-milligram quercetin equivalent/gram dry weight followed by stem bark extract at 255.72 and the least amount was found in aqueous leaf extract having 164.52 mgQE/g of sample dry weight. The existence of secondary metabolites linked to antioxidant action was shown by the qualitative phytochemical screening.

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Considerations regarding the attitude of medical staff towards administrative risks within the Pathology Department

DOI: 10.2478/amma-2024-0023

Objective: In the context of public health, there is a common misconception that only Romania’s system faces issues and generates societal dissatisfaction. However, globally, there is significant room for improvement, as the performance of the sector is often unsatisfactory. This paper presents findings from an exploratory study on the attitudes of medical personnel in pathology services towards managerial and administrative risks, supported by a survey that provides a wealth of useful information.
Methods: The survey encompassed a geographic area including the counties of Mureș, Harghita, Sibiu, and Alba, involving 12 healthcare units: 2 university hospitals, 2 county hospitals, and several municipal or town hospitals. These institutions housed anatomical pathology service structures staffed by approximately 240 physicians and assistants, with a ratio of 1 physician to 2.5 assistants. The questionnaire aimed to test four hypotheses through questions that invited respondents to select from formatted answers.
Results: Of the four hypotheses formulated and their corresponding items, only two were confirmed. This outcome suggests that the Romanian healthcare system is not unequivocally adaptable to the needs of medical product consumers. Specifically, the data indicate that hospitals face dire financial conditions amidst various challenges and vulnerabilities.
Conclusion: Differences of opinion between the two categories of respondents are evident in certain risk categories. This discrepancy arises from the specific nature of their activities and their respective contributions to ensuring the quality and efficiency of the service.

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The influence of the COVID-19 pandemic on pediatric hospitalizations for type 1 diabetes mellitus

DOI: 10.2478/amma-2024-0021

Objective: In this retrospective cohort study, we aimed to provide a snapshot of how the pandemic has affected pediatric type 1 diabetes mellitus (T1D) admissions in our hospital.
Methods: This study included 117 patients aged 0-18 classified based on period (pre-pandemic vs. pandemic period 2020-2022) and type of diagnosis at admission: new-onset T1D (nT1D) or diabetic ketoacidosis (DKA)-decompensated T1D. We investigated the effect of the COVID-19 pandemic on the demographic, clinical, and laboratory characteristics of these patients.
Results: Out of all T1D-related admissions, the proportion of admissions for nT1D increased compared to the pre-pandemic period: 71.6% vs 53.4%, p=0.048. Unrelated to the pandemic, the type of diagnosis at admission was associated with 1) the sex distribution (males – more nT1D admissions, females – more frequent DKA admissions, p=0.01), and 2) hospitalization duration (longer for nT1D admissions than for DKA-decompensated T1D admissions, p=0.001). Blood glucose and HbA1c levels were influenced neither by the pandemic period nor by the type of diagnosis. During the pandemic, a change in the T1D seasonality became apparent. A potential association pattern between new COVID-19 cases, number of T1D admissions, and stringency of restrictions was observed.
Conclusions: During the COVID-19 pandemic, the proportion of nT1D admissions increased, as well as the severity of DKA-decompensated T1D cases. In addition, the pandemic period brought about notable shifts in the seasonality of pediatric T1D.

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