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.

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.

Effects of Chronic Migraine on Male Sexual Health.

OBJECTIVE: To investigate the clinical implication of the sexual functions of male patients diagnosed with chronic migraine (CM) compared with the healthy population. STUDY DESIGN: Observational study. PLACE AND DURATION OF STUDY: Departments of Urology and Neurology, Hitit University Hospital, Turkey, from August 2019 to August 2020. METHODOLOGY: A total of 179 patients (92 subjects diagnosed with CM and 87 control healthy volunteers) were included in this study. Demographic descriptive data including age, height, weight, and body mass index (BMI) of all patients were recorded. A 5-question version of the international index of erectile function questionnaire (IIEF-5) was applied to evaluate their sexual functions. Furthermore, a migraine identification test was performed for CM patients for the diagnosis of migraine in accordance with the International Headache Society's (IHS) definition of chronic migraine. Visual analog scale (VAS) scores between 0-10 points were recorded for the qualitative assessment of migraine pain. RESULTS: The IIEF-5 scores of CM patients [16 (11 - 21)] were lower compared to the control patients [21 (19 - 23), p <0.001)]. A negative correlation was found between the VAS scores and IIEF-5 scores of CM patients (rho -0.582, p <0.001). In the regression analysis, it was found that a 1-unit increase in the VAS score led to a 1.5 point decrease in the IIEF-5 score (p <0.001). CONCLUSION: Migraine pain in male patients with CM adversely affected erectile functions. A more detailed investigation of the pathophysiological mechanisms may be helpful in the treatment of ED. KEY WORDS: Erectile dysfunction, Chronic migraine, IIEF-5, Erectile functions.

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.

Clinical Manifestations of Overactive Bladder With Migraine as a Comorbidity: A Prospective Cross-Sectional Study.

PURPOSE: The aim of this study was to investigate the clinical manifestations of overactive bladder (OAB) with migraine as a comorbidity and to shed light on possible new treatment strategies. METHODS: This study included patients aged 18 years and older who were admitted to urology and neurology outpatient clinics between March 1, 2019 and March 1, 2020 for OAB and migraine. The study questionnaire contained 3 sections: (1) questions on demographic characteristics, (2) a migraine ID test, and (3) the Overactive Bladder Inquiry Form - V8 (OAB-V8) form. RESULTS: A total of 265 patients participated in the study. The average age of the participants was 39.75±11.93 years. The patients were divided into 3 groups according to the coexistence of OAB with migraine: group 1, OAB(+)/migraine(+); group 2, OAB(+)/migraine(-); and group 3, OAB(-)/migraine(+). The mean OAB-V8 score was 22.82 ±8.15 in group 1 and 25.64±7.49 in group 2. The mean OAB-V8 score of OAB patients with migraine as a comorbidity was statistically significantly lower than that of OAB patients without migraine (P=0.015). The median visual analogue scale (VAS) score was 7.11 (range, 2-10) in group 1 and 5.95 (range, 2-10) in group 3. This finding indicates that in patients with migraine, having OAB was associated with significantly higher VAS scores (P<0.001). CONCLUSION: OAB and migraine may be comorbid conditions coexisting in a single patient. This comorbidity may lead to a lower perception of OAB symptoms in OAB patients or, conversely, to a higher perception of migraine pain. Further studies are needed to elucidate how treatments for each of these diseases can affect the other disease.

Migraine-like headache in cerebral venous sinus thrombosis.

A 20-year-old female, university student presented with severe, throbbing, unilateral headache, nausea and vomiting that started 2 days ago. The pain was aggravated with physical activity and she had photophobia. She had been taking contraceptive pills due to polycystic ovary for 3 months. Cranial computed tomography was uninformative and she was considered to have the first attack of migraine. She did not benefit from triptan treatment and as the duration of pain exceeded 72 h further imaging was done. Cranial MRI and MR venography revealed a central filling defect and lack of flow in the left sigmoid sinus caused by venous sinus thrombosis. In search for precipitating factors besides the use of contraceptive pills, plasma protein C activity was found to be depressed (42%, normal 70-140%), homocystein was minimally elevated (12.7 µmol/L, normal 0-12 µmol/L) and anti-cardiolipin IgM antibody was close to the upper limit.

The prevalence of migraine in restless legs syndrome.

OBJECTIVE: While previous studies have investigated the prevalence of restless legs syndrome (RLS) in patients with migraine, we aimed to explore the prevalence and characteristics of migraine in adult patients diagnosed with RLS. BACKGROUNDS: The association of primary headaches, especially of migraine, with RLS has recently attracted much attention. Migraine prevalence was reported to be higher in patients with RLS than in the general population, and the role of dopamine was strengthened. METHODS: We evaluated 265 consecutive adult RLS patients (137 males and 128 females) followed up in a Sleep Disorders Unit and diagnosed according to criteria defined by the International Restless Legs Syndrome Study Group (IRLSSG). RLS characteristics, and the severity, were performed by using the IRLSSG severity scale. The diagnosis of headache subtypes was defined by the International Classification of Headache Disorders. Gender, age, age at RLS onset, duration of RLS, family history of RLS, family history of headache, presence of depression, any treatments given for RLS, and the change in headache following RLS treatment were questioned. RESULTS: The mean age of the study population was 50.4 ± 12.8 years, mean age at RLS onset was 41.6 ± 13.2 years, and mean disease duration was 8.40 ± 8.6 years. Of these, 163 patients had headache; 40 of them were diagnosed to have migraine-type headache (15.1%). The presence of migraine-type headache was 9.4% in males with RLS, and 21.1% in female RLS patients. In RLS patients with migraine, 67.5% were females, while 48.0% of RLS patients with other types of headache were females (P = .032), and only 41.2% of RLS patients without headache were females (P = .005). The severity of RLS was significantly higher in patients with migraine compared with those without headache (P < .001). The presence of depression, the family history of RLS, and headache were also higher in patients with migraine compared with RLS patients with other types of headache or those without headache. Thirty-six patients with headache reported partial or substantial benefit from RLS treatment. CONCLUSIONS: Our results did not suggest higher rates of migraine-type headache in RLS patients when compared with population-based prevalence studies from Turkey. Alternatively, the severity of RLS was significantly higher in patients with migraine. Although the increase in these scores does not constitute a relationship etiopathogenetic, it suggests a correlation between the type cross-model nociceptive systems. Moreover, the family history of RLS was higher in patients with migraine. The prevalence of migraine in patients with RLS, however, waits to be better demonstrated.

Bilateral non-arteritic anterior ischemic optic neuropathy following second-trimester spontaneous abortion-related haemorrhage.

Bilateral anterior ischemic optic neuropathy is a rare complication of massive haemorrhage and related hypotension and anaemia in young individuals. We report a 34-year-old woman with bilateral non-arteritic ischemic optic neuropathy (NAION) after a massive spontaneous abortion-related haemorrhage who presented with sudden painless visual loss in her left eye. Visual acuity was 20/20 in the right eye with only hand motion discernible in the left eye. There was a left relative afferent papillary defect (RAPD). Fundus examination revealed bilateral swollen, hyperaemic optic discs and nerve fiber layer haemorrhages. Brain MRI and magnetic resonance venography were normal. The diagnosis of bilateral NAION was made and intravenous pulse corticosteroid therapy (1000 mg/day) was administered for three days. On the sixth day, optic disc oedema regressed bilaterally and on the third week, the visual acuity improved to 20/80 in the left eye. The visual field showed only a small spared area in the nasal region, and persistent RAPD was present. After two months, fundus examination showed a small and crowded optic disc on the right and a pale optic disc on the left. Severe acute haemorrhage is an important risk factor for NAION in healthy young individuals. In addition to correction of hypotension and anaemia, intravenous high dose corticosteroid might be beneficial for treatment.

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.

Use of botulinum toxin type A for the treatment of masseteric muscle hypertrophy.

We investigated the effectiveness of botulinum toxin A intramuscular injection for the management of masseteric muscle hypertrophy. Five patients with masseteric muscle hypertrophy were treated with botulinum toxin A (Dysport, Beaufour Ipsen, France). Clinical photographs were obtained before and between 3 and 6 months after application. Four patients are pleased with their present facial appearance. However, one patient reported mild discomfort about his appearance. Neither local nor general adverse effects were noted. Botulinum toxin A is a safe, easy-to-use, and effective nonsurgical option in the management of masseteric muscle hypertrophy. Its use is associated with a high degree of patient and physician satisfaction.

Magnetic resonance spectroscopy of the thalamus in essential tremor patients.

BACKGROUND AND PURPOSE: Although essential tremor (ET) is one of the most common movement disorders, its pathogenesis remains obscure. The ventral intermediate nucleus of the thalamus (VIM nucleus) is suggested to play an important role in the occurrence of disease. In this study, the authors investigated the presence of biochemical or metabolic alterations in the thalamus of patients with ET using magnetic resonance (MR) spectroscopy. METHODS: The study group included 14 patients with ET who suffered from tremor predominantly in their right arm and 9 healthy controls. All patients and controls were right handed. Following conventional cranial MR imaging, single voxel proton MR spectroscopy of the thalamus involving the VIM nuclei was performed bilaterally in both the patients with ET and controls. Metabolite peaks of choline (Cho), creatine (Cr), and Nacetylaspartate (NAA) were obtained from each spectroscopic volume of interest. The right and left thalamic NAA/Cr and Cho/ Cr ratios were compared first within the patient group and then between the control and patient groups. The differences in age and spectroscopic data between groups were assessed using the Mann-Whitney U test, whereas the comparison within groups between left thalamus and right thalamus was done by the Wilcoxon test. RESULTS: In patients with ET, the NAA/Cr ratio of the right thalamus was found to be significantly higher than the NAA/Cr ratio of the left thalamus (P= .02). However, NAA/Cr and Cho/Cr ratios were found to be similar (P> .05) when we compared the control and patient groups for the right thalamus and then the left thalamus. CONCLUSION: These data present preliminary evidence for metabolic alterations of the contralateral thalamus (namely, low NAA/Cr ratio) in ET patients with predominantly involved right arm. However, the series is small and further data are necessary to clear the subject adequately.

Color Doppler imaging in optic neuritis with multiple sclerosis.

PURPOSE: To evaluate the retrobulbar hemodynamics in eyes with optic neuritis with multiple sclerosis and to compare these values with those of the unaffected fellow eyes and healthy control eyes. METHODS: Thirty-four eyes of 17 patients with unilateral optic neuritis and multiple sclerosis and 16 eyes of 16 normal healthy subjects were recruited from the Departments of Ophthalmology and Neurology. The peak systolic and end-diastolic blood flow velocities and resistivity indices of the ophthalmic artery, posterior ciliary arteries and central retinal artery were measured in each eye with optic neuritis, using color Doppler imaging. Then, they were compared with those of the unaffected fellow eyes and healthy control eyes using paired and unpaired Student's t-tests, respectively. RESULTS: The mean retrobulbar blood flow velocities and mean resistivity index in the ophthalmic artery in the eyes with optic neuritis were not significantly different from the unaffected fellow eyes and healthy control eyes, as well (P>0.05). The mean end-diastolic blood flow velocity in the central retinal artery (P=0.04) was lower and mean resistivity indices in the central retinal (P=0.02) and posterior ciliary arteries (P=0.009) were higher in the eyes with optic neuritis than in the control eyes. In patients with multiple sclerosis, the eyes with optic neuritis had higher resistivity indices in the posterior ciliary (P=0.02) and central retinal arteries (P=0.04) than did the unaffected fellow eyes. The retrobulbar blood flow velocities and resistivity indices of all vessels in the unaffected fellow eyes did not significantly differ from the control eyes (P>0.05). CONCLUSIONS: This study suggests that optic neuritis with multiple sclerosis is associated with impaired retrobulbar hemodynamics, especially in the posterior ciliary and central retinal arteries when compared with the contralateral unaffected eyes as well as healthy control eyes.

MR spectroscopy of cervical spinal cord in patients with multiple sclerosis.

MR spectroscopy (MRS) of the brain in patients with multiple sclerosis has been well studied. However, in vivo MRS of the spinal cord in patients with MR spectroscopy has not been reported to our knowledge. We performed MRS of normal-appearing cervical spinal cords in multiple sclerosis patients and in healthy controls. N-acetyl aspartate was shown to be reduced within the cervical spinal cord of multiple sclerosis patients when compared with healthy controls. This finding supports axonal loss and damage within even normal-appearing spinal cords of multiple sclerosis patients.

Ankylosing spondylitis and multiple sclerosis in an HLA-B27 negative patient.

A 41-year-old man presented with vertigo and gait disturbance. He gave a 10-year history of definite ankylosing spondylitis with low back pain, limitation of spinal mobility, decreased chest expansion and radiological evidence of bilateral sacroiliitis. The vertigo attacks started 3 years before and he had insidious evolution of bilateral leg weakness, increased muscle tension and walking disability during the past 2 years. The HLA haplotypes of the patient were A2, A33, B14, B49, Bw4, Bw6, Cw7 and he was HLA-B27 negative. The axial and sagittal cranial magnetic resonance imaging (MRI) showed multiple foci of increased signal intensity in the periventricular white matter and cerebellar hemispheres, suggesting a demyelinating disease process. The MRI of the spine showed centromedullar high intensity lesions at C7, Th7-8, Th9-10 levels. The diagnosis was definite MS (primary progressive MS) as the patient had insidious neurological progression, CSF evidence of inthrathecal production of oligoclonal bands, conduction defects at VEP, multiple brain and additional spinal cord lesions on MRI and continued progression for more than 1 year.

Dual benefit from intramuscular interferon-beta treatment in a patient with multiple sclerosis and chronic hepatitis-C virus infection.

In patients with hepatitis C virus infection interferon-beta therapy is most effective when administered by the intravenous route. However we would like to present a patient with multiple sclerosis and chronic hepatitis C virus infection who obtained dual benefit from intramuscular interferon-beta therapy. Intramuscular interferon-beta 1a (Avonex) 6 million U/week was started for prevention of attacks in a 32-year-old woman with multiple sclerosis. She had acquired hepatitis C virus infection from blood transfusion during a Caesarean section. Although serum transaminases were within normal limits anti-hepatitis C virus test by ELISA and hepatitis C virus RNA by polymerase chain reaction were positive. Liver biopsy revealed chronic persistent hepatitis. Considering the use of interferon-beta 1a for multiple sclerosis prophylaxis and the stage of hepatitis the patient was not offered any additional treatment. Repeat liver biopsy performed after one year showed the absence of previous findings. The patient has also cleared the hepatitis-C virus RNA.