Association between Alzheimer's disease, MAPT gene mutation and some biochemical biomarkers.

Alzheimer's Disease (AD) is a multifactorial neurodegenerative disease and there is still no definitive treatment today. Early diagnosis of the disease is important, but there are almost no biomarkers that can be used in early diagnosis. The cerebrospinal fluid used in the diagnosis of the disease is not sufficient and is very difficult to obtain. Therefore, blood biomarkers that are less costly, less invasive, easily accessible, and can be used in long-term studies would be a better alternative. The aim of this study is to determine the relationship between Alzheimer's Disease and P301L MAPT gene mutation, homocysteine, folate and uric acid. 101 Alzheimer's patients and 101 healthy individuals were included in this study. Mutation analysis was performed using the Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) method with blood samples taken from the subjects. There was no significant difference between the patient and control groups in terms of homocysteine (p = 0.771), folate (p = 0.366) and uric acid (p = 0.860). When the genotypes were compared between the patient and control groups in terms of MAPT gene mutation (P301L), no statistically significant difference was detected (p = 0.081). There are very few studies in the literature investigating the relationship between Alzheimer's disease and P301L MAPT gene mutation. Additionally, there is no study investigating the relationship between Alzheimer's disease and homocysteine, folate, uric acid and P301L MAPT mutation in the Turkish population. We believe that this study has shed light on future studies.

Investigation of the relationship between ACAN gene VNTR polymorphism and Alzheimer's disease in Turkish population.

Alzheimer's disease is one of the most common causes of dementia and is a neurodegenerative disease that occurs with memory loss, loss of language, thinking and problem-solving skills. In this study, it was aimed to reveal the relationship between Alzheimer's disease and the variable number tandem repeat (VNTR) polymorphism in the aggrecan (ACAN) gene. Thus, it is thought that it will contribute to enlightenment about disease by contributing to the pathophysiology of Alzheimer's disease. A total of 203 people, including 102 patients diagnosed with Alzheimer's and 101 healthy individuals, were included in the study. Deoxyribonucleic acid (DNA) extraction was performed from the blood samples taken. The variable number tandem repeat (VNTR) polymorphism of the ACAN gene was determined using the Polymerase Chain Reaction (PCR) method. In our study, the 30 R, 31 R and 33 R alleles were the most repetitive alleles in patients and controls. 30 R, 31 R and shorter alleles were more common in patients than in the control group and were found to be statistically significant (p = 0.042). According to our results, 30 R and 31 R alleles of the VNTR polymorphism in the ACAN gene may be associated with Alzheimer's disease. In addition, having less than 30 repeat alleles increases the risk of the disease by 2,202 times. Our study is the first to investigate the relationship between ACAN gene VNTR polymorphism and Alzheimer's disease. Further studies are needed to definitively relate it.

A Rare Presentation of Leptospirosis: Dysarthria and Guillain-Barré Syndrome.

Leptospirosis can present with severe cases such as polymyositis, peripheral neuropathy, and rarely, Guillain-Barré Syndrome (GBS). This paper reports a case who presented with dysarthria and GBS. A female patient presented with complaints of weakness, dizziness, diarrhea, and dysarthric. Her assessments included muscle strength globally 4/5 and deep tendon reflexes as hypoactive. An electromyographic examination was performed with the increase of weakness in the lower extremities, which indicated findings compatible with GBS. Antibodies against Leptospira biflexa serovar Patoc 1 at 1/400 titer were detected in the microscopic agglutination test (MAT). Neurological involvement in leptospirosis cases can range from meningoencephalitis to GBS.

Retinal nerve fiber layer analysis in idiopathic intracranial hypertension.

BACKGROUND: The chronic nature of idiopathic intracranial hypertension (IIH) represents a risk factor for progressive optic nerve damage and structural abnormalities of the retina. AIM: We measured the retinal nerve fiber layer (RNFL) thickness in patients followed with the diagnosis of IIH who had no or mild visual impairment to search for possible structural alterations in the retina for diagnostic and prognostic purposes. SETTINGS AND DESIGN: Case-control prospective study. MATERIALS AND METHODS: The study group consisted of 12 women followed and treated with the diagnosis of IIH in our clinic. The selection criteria were the, normal optic nerve, normal visual fields or mild visual field defects (Grade 1-3) by Humphrey perimeter. Randomly assigned, age-matched 12 healthy women were taken as the control group. Retinal nerve fiber layer thickness was evaluated with scanning laser polarimetry and both eyes were studied for each case in both groups. STATISTICAL ANALYSIS USED: Mann-Whitney U test. RESULTS: The mean ages of the patient and the control groups were 34.58+/-4.2 and 34.42+/-5.7 years respectively (P=0.87). The mean duration of disease was 5.5+/-3 years. Some parameters related to RNFL thickness were found to differ significantly between patients with IIH and control subjects. Namely superior ratio (P=0.007), inferior ratio (P=0.039), superior-nasal ratio (P=0.025), maximum modulation (P=0.01) and symmetry (P=0.006) were lower in the patient group than controls. CONCLUSION: Scanning laser polarimetry might be a good adjunct for determining possible structural affects of IIH on the retina in patients with no or mild visual impairment.