Category Archives: AMM 2024, Volume 70, Number 4

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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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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