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1.
Acta Neurol Belg ; 124(3): 981-986, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38526645

ABSTRACT

Migraine is a common and disabling primary headache disorder and inflammation is a proposed factor in the complex ethiology of the disease. Gasdermin D (GSDMD) is a membrane pore-forming protein acting through the caspase system. End result is cell death caused by leakage of intracellular components to extracellular space which also results in inflammation. Stemming from this knowledge, the potential role of GSDMD in migraine was investigated in this prospective study. This prospective study was conducted between September 2022 to April 2023. 47 patients with migraine were designated as the patient group, whereas 47 healthy volunteers were designated as the control group. Serum GSDMD levels of both groups were compared, with an additional comparison between migraine patients during symptom-free and attack periods. Migraine related characteristics of the patients were also included in the study. Median GSDMD levels of the patient and control group did not reveal a significant difference. Nausea, vomiting and severity of headache were found to be correlated with GSDMD levels in migraine patients. Patients with nausea revealed a higher GSDMD level compared to patients without nausea during both symptom-free and attack periods (p = 0.021 and p = 0.01, respectively). Nausea was correlated to higher GSDMD levels in the patient population during symptom-free period (p = 0.030). The severity of pain was positively correlated with GSDMD levels during the attack period (p < 0.001). Gasdermin family and GSDMD in particular are promising prospects for therapy in a wide spectrum of disorders. Gasdermin proteins are candidates to be the focus for future studies both related to pathogenesis and drug therapy in migraine and varying inflammatory-driven clinical pictures.


Subject(s)
Migraine Disorders , Phosphate-Binding Proteins , Humans , Migraine Disorders/blood , Male , Female , Phosphate-Binding Proteins/blood , Adult , Prospective Studies , Middle Aged , Inflammation/blood , Pore Forming Cytotoxic Proteins/blood , Nausea/etiology , Young Adult , Gasdermins
3.
Epilepsy Behav ; 89: 130-134, 2018 12.
Article in English | MEDLINE | ID: mdl-30415134

ABSTRACT

Psychogenic nonepileptic seizures (PNES) are more prevalent among women, and diagnosis may sometimes be delayed by as much as seven years. Understanding the effect of gender on the presentation of a PNES may assist with diagnosis based on semiological details in the clinical setting. Although video-EEG monitoring (VEM) is the gold standard for diagnosing PNES, determining gender-related seizure semiology through careful history may prevent diagnostic delay while waiting for VEM. The aim of this study was to investigate gender-related differences in the semiology of PNES. Patients, all aged at least 16 years, diagnosed with PNES following VEM between December 2005 and November 2016 were included in this study. All patients' medical records and video-EEG-documented PNES were reviewed, and the presence or absence of semiological signs was recorded for each documented attack. Demographic features and semiological signs of PNES were compared between female and male patients. Forty-one patients (31 females, 10 males) aged 27.2 ±â€¯12.2 years (range: 16-65) were included in the study. Mean age at onset of PNES was higher for female patients than males, at 24.3 ±â€¯11.5 versus 17.5 ±â€¯3.2 years (p = 0.005). The median duration of PNES was longer for female patients than males, at 10 min (range: 5 s-120 min) versus 2 min (range: 10 s-60 min) (p = 0.016). The most common symptom was forced eye closure in both genders. No significant gender-specific differences were observed in terms of the type or semiology of PNES. Although there are no major gender-related differences in PNES semiology, our findings highlight the importance of greater caution, especially in male patients, when diagnosing PNES, remembering that onset may also occur at young ages and that a short seizure duration does not exclude PNES.


Subject(s)
Seizures/diagnosis , Adolescent , Adult , Aged , Delayed Diagnosis , Electroencephalography , Female , Humans , Male , Middle Aged , Ocular Physiological Phenomena , Retrospective Studies , Seizures/physiopathology , Sex Factors , Time Factors , Young Adult
4.
Med Princ Pract ; 26(1): 71-77, 2017.
Article in English | MEDLINE | ID: mdl-27802446

ABSTRACT

OBJECTIVES: The aim of this study was to investigate the associations between major histocompatibility complex (MHC) class I and II alleles and disease characteristics in Turkish patients with myasthenia gravis (MG). SUBJECTS AND METHODS: The MHC class I and II alleles of 108 unrelated MG patients were genotyped. The human leucocyte antigen (HLA) distribution of all MG patients and subgroups of MG patients (grouped according to disease characteristics) was compared to that of 250 healthy controls. RESULTS: Overall distributions of HLA-B*61 and C*05 were more frequent in MG patients (7.4 vs. 2.0% and 14.8 vs. 6.8%, respectively) than in non-MG patients. Subgroup analyses revealed that HLA-DRB1*14 and DQB1*02 alleles were more frequent in early-onset MG [n = 10 (20.8%) vs. n = 25 (10.0%) and n = 21 (43.8%) vs. n = 59 (23.6%)]. In patients seropositive for anti-AchR antibodies, the frequencies of HLA-B*50 and C*05 were higher. HLA-C*05, DRB1*01, and DRB1*11 were higher in patients with ocular MG. In addition, HLA-A*01, A*31, B*08, and DRB1*14 were higher among patients with thymic hyperplasia, whereas DQB1*03 was lower. However, all of these differences lost significance after correction of the p value for multiple comparisons. No allele association was found among patients with thymoma. Strikingly, patients with generalized MG who had pure ocular symptoms at disease onset had significantly increased HLA-B*50 compared to the controls (corrected p < 0.001, OR = 9.92; 95% CI 3.05-32.22). CONCLUSION: The HLA-B*50 allele was associated with conversion to generalized disease in patients with pure ocular symptoms at disease onset. This finding could extend our understanding of the complex interactions between the pathogenesis of MG and genetic heritage.


Subject(s)
Genes, MHC Class II/genetics , Genes, MHC Class I/genetics , HLA-DQ beta-Chains/genetics , HLA-DR Antigens/genetics , Myasthenia Gravis/genetics , Adult , Aged , Aged, 80 and over , Alleles , Eye Diseases/complications , Female , Genetic Predisposition to Disease , Genotype , HLA Antigens , Humans , Male , Middle Aged , Myasthenia Gravis/blood , Myasthenia Gravis/complications , Turkey , Young Adult
5.
Neurologist ; 17(3): 144-6, 2011 May.
Article in English | MEDLINE | ID: mdl-21532382

ABSTRACT

Head drop is characterized by marked anterior flexion of the cervical spine. As a result, the affected patient presents with the head tilted forward and the chin resting on the chest. We report a 75-year-old male patient with parkinsonism and head drop caused by isolated myasthenic weakness of the neck extensor muscles. Our case is the second report of isolated head drop as a presenting symptom of myasthenia gravis in a patient with parkinsonism.


Subject(s)
Muscle Weakness/etiology , Muscle Weakness/physiopathology , Myasthenia Gravis/complications , Neck Muscles/physiopathology , Parkinson Disease/physiopathology , Aged , Cholinesterase Inhibitors/therapeutic use , Electromyography , Head , Humans , Immunoglobulins, Intravenous/therapeutic use , Male , Muscle Weakness/drug therapy , Myasthenia Gravis/diagnosis , Myasthenia Gravis/immunology , Parkinson Disease/diagnosis , Pyridostigmine Bromide/therapeutic use
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