Background and Objectives: Semaphorins are immunoregulatory proteins involved in inflammation and neurovascular modulation. Their roles in ischemic stroke pathogenesis and prognosis have recently gained attention. This study aimed to evaluate serum levels of semaphorin 3A, 3F, 4A, 4D, and 7A in patients with acute ischemic stroke and investigate their relationship with disease severity and prognosis. Materials and Methods: A total of 45 patients with acute ischemic stroke and 39 control individuals were enrolled. Serum semaphorin levels were measured using ELISA. Clinical data, including TOAST classification, NIHSS scores, and laboratory parameters, were recorded. Correlations between semaphorin levels and clinical or biochemical variables were analyzed statistically. Results: Semaphorin 4A levels were significantly lower and semaphorin 7A levels significantly higher in the patient group compared to controls (p < 0.001). Semaphorin 7A positively correlated with NIHSS scores (r = 0.390. p = 0.008). Semaphorin 3A and 4A levels showed significant correlations with inflammatory markers and lipid profiles. Semaphorin 3A was higher in female patients. No associations were found with TOAST subtypes or treatment modalities. Five (11.1%) patients died due to stroke-related complications, no significant differences in semaphorin levels were observed between survivors and non-survivors. Conclusions: Semaphorin 3A, 4A, and 7A levels may serve as potential biomarkers for inflammation and disease severity in acute ischemic stroke. Semaphorin 7A, in particular, showed strong prognostic value due to its association with stroke severity. These findings suggest that semaphorins could aid in clinical risk stratification and early intervention planning in ischemic stroke.
McArdle disease (glycogen storage disease type V) is a rare autosomal recessive metabolic myopathy caused by pathogenic variants in the PYGM gene, leading to myophosphorylase deficiency. It typically presents with exercise intolerance, muscle pain, cramps, and, in some cases, rhabdomyolysis. Due to marked clinical heterogeneity, diagnosis is often delayed. We report two adult siblings with McArdle disease carrying the same homozygous PYGM variant and highlight the importance of family screening. Both siblings underwent detailed clinical, biochemical, and genetic evaluation. Laboratory investigations included creatine kinase levels, alanine aminotransferase, aspartate aminotransferase levels, and genetic analysis was performed using a next-generation sequencing panel targeting myopathy-related genes. The first case was a 38-year-old male with long-standing exercise-induced muscle pain, cramps, weakness, and a history of rhabdomyolysis. His creatine kinase level was 2,490 U/L, and physical examination revealed limb asymmetry, a high-arched palate, and kyphoscoliosis. The second case was his 26-year-old sister, who developed exercise-induced muscle pain at 20 years of age and had a markedly elevated creatine kinase level of 12,380 U/L. She showed a high-arched palate and atrophy of the left gastrocnemius muscle. Molecular analysis identified a homozygous PYGM c.1A>G (p.Met1Val) variant affecting the translation initiation codon in both siblings. Despite sharing the same pathogenic variant, the siblings exhibited notable intrafamilial phenotypic variability. This report underscores the clinical diversity of McArdle disease and emphasizes the value of family screening and molecular testing for early diagnosis and appropriate management.
Giriş: Virchow-Robin boşlukları olarak bilinen perivasküler boşluklar, metabolik atıkları temizlemek için beyin omurilik sıvısı (BOS) ve interstiyel sıvının astrositik aquaporin 4 (AQP4) kanalları yoluyla değişimine izin vermektedir. Glimfatik sistemde bu perivasküler boşlukların mekanizmasında ortaya çıkan aksamalar, nörodejeneratif hastalıkların oluşum mekanizmalarından biri olarak gösterilmektedir. Bu yazımızda demansiyel süreç ile takip edilen, nörogörüntülemesinde genişlemiş Virchow-Robin boşlukları saptanan, nadir görülen bir olguyu sunmayı amaçladık. Olgu: Seksen yaşında kadın hastanın yaklaşık altı yıl önce başlayan ve giderek artan unutkanlık şikayetleri olduğu öğrenildi. Özgeçmişinde Alzheimer tipi demans ön tanısı olduğu öğrenildi. Nörolojik muayenesinde genel durum iyi, şuuru açık, koopereydi, kişi ve zaman dezoryanteydi. Toplam 30 puanlık mini mental test 13 puan saptandı. Kranial manyetik rezonan görüntüleme (MRG) de her iki serebral hamisferde yaygın perivasküler genişleme ve T2 hiperintensiteleri ve konveksite düzeyinde mikrohemoraji odakları izlendi. Dört yıl önce de çekilen kranial MRG da perivasküler genişlemeler izlendi. Serebral amiloid anjiopati ön tanısı ile interne edildi ve 1 mg/kg dan kortikoteroid tedavisi verildi. Kortikosteroid tedavisi ile semptomları gerilemeyen olgunun kranial MRG’si nöroradyoloji konseyinde Virchow-Robin boşluklarının genişlemeleri olarak değerlendirildi. Tartışma: Bu perivasküler boşlukların genişlemesi yüksek olasılıkla ileri yaş, hipertansiyon ve aterosklerotik karotis plakları gibi arteryel damarlardaki patolojiler ve nabızda izlenen dalgalanmalar ile açıklanmaya çalışılmıştır. Perivasküler boşluklardaki bu genişlemelerin daha çok bazal ganglionlar ve sentrum semiovalede görüldüğü bildirilmiş. Bizim olgumuzda ön planda amilod anjiopatide düşünülse de kortikosteroide tedavi yanıtı alınamamıştır. Nöroradyoloji konseyinde MRG lezyonlarının Virchow-Robin boşluklarının genişlemesi lehine değerlendirilmesi üzerine, bu perivasküler boşlukların genişlemelerinin demans riskinde artışa neden olabileceğini vurgulamak amacıyla sunuma değer görülmüştür.
28 June 2025 in Academic Journal of Neurology and Neurosurgery
Wernicke encephalopathy (WE) is a serious acute neurological condition that is commonly associated with vitamin B1 (thiamine) deficiency due to alcohol abuse, albeit it can also occur in non-alcoholic settings. In cases of thiamine deficiency, a clinical diagnosis of WE is considered when two or more of the classic features—such as ophthalmoplegia, gait ataxia, and confusion—are present. A rare clinical manifestation of WE, including bilateral sixth cranial nerve palsy, ataxia, and pontine involvement on MRI, is described in this report. A 36-year-old male was admitted with complaints of diplopia for five days, along with a one-month history of hallucinations and insomnia. His medical history revealed chronic alcohol dependence, including recent consumption of homemade alcohol shortly before his complaints began. On neurological examination, bilateral restricted lateral gaze was observed. Axial T2-weighted MRI images of the brain showed a hyperintense lesion at the pontine midline. The patient was admitted with a preliminary diagnosis of WE and started on thiamine therapy at 500 mg/day for five days, followed by 200 mg/day and then 100 mg/day, each administered for an additional five days. During the early stages of WE, patients typically exhibit characteristic symptoms such as alterations in mental status, ophthalmoplegia, and ataxia. On T2-weighted MRI, Wernicke encephalopathy is indicated by hyperintense lesions in brain regions with high carbohydrate metabolism, particularly involving the ventral thalamus, hypothalamus, mammillary bodies, periaqueductal gray matter, and the floor of the fourth ventricle. This case has been presented to highlight a rare clinical presentation of Wernicke encephalopathy.
GİRİŞ: Migren, tipik olarak 4 ile 72 saat süren, genellikle orta veya şiddetli tekrarlayan başağrısı atakları ile karakterizedir. Başağrısı, genellikle bulantı, kusma ve/veya ışığa ve sese karşı tahammülsüzlük ile birlikte görülür. Migren ile ilgili birçok tedavi modalitesi olmakla birlikte bu çalışmada kliniğimizde migren hastalarının Galcanezumab tedavi deneyimleri ve sonuçlarının sunulması amaçlanmıştır. GEREÇ ve YÖNTEM: Sakarya Üniversitesi Eğitim Araştırma Hastanesi Nöroloji Anabilim Dalı’nda 2021-2023 yılları arasında başvuran, 18 yaşın üzerinde, en az iki yıllık migren öyküsüne sahip olan ve ICHD-3 kriterlerine göre tanı almış olan Galcanezumab tedavisi alan dokuz olgu dâhil edilmiştir. BULGULAR: Olguların ortalama migren süresi dört ve otuz yıl arasında değişmektedir ve ortalama 17,4 (6,8) yıldır. Hastaların Galcanezumab öncesi ortalama aylık migren başağrısı gün sayısı on beş ve yirmi beş gün arasında değişmektedir ve ortalama 18,3 (3,5) gündür. Hastalar Galcanezumab tedavisi sonrası ortalama %86,6 migren başağrısı şiddetinde azalma ve ortalama %90 migren başağrısı sıklığında azalma ve %88,8’i akut ilaç kullanımında azalma bildirmektedir. TARTIŞMA: Çalışmamızda hastaların Galcanezumab tedavisi ile migren sıklığı, şiddeti ve analjezik tüketiminde önemli bir ölçüde iyileşme gösterdiğini tespit ettik. Çalışmaya, tedaviye en az altı ay devam eden hastalar dâhil edilmiştir. Bu hastalar aylık enjeksiyonun sürekli ilaç kullanımına göre kolaylığı ve klinikte önemli ölçüde fayda görmeleri nedeniyle tedaviye devam ettiklerini bildirdiler. Migrenin patofizyolojik bilgisi ve klinik çalışmalardaki yüksek araştırma standartları, risk altındaki kişilerde hastalığın ilerlemesini önlemeyi mümkün kılabilir. SONUÇ: Bu çalışma, ülkemiz genelinde kullanımı giderek yaygınlaşan Galcanezumab tedavisinin migren başağrısı tedavisinde önemli bir rolü olduğunu göstermek ve klinik deneyimlerimizi paylaşmak amacıyla sunulmuştur. Anahtar Kelimeler: Başağrısı, Migren, Galcanezumab
Introduction: Carotid artery stenosis is the presence of 50% or more stenosis in the internal carotid artery (ICA) according to the North American Symptomatic Carotid Endarterectomy Trial (NASCET) criteria and is one of the leading etiological factors of ischemic stroke. The severity of stenosis is associated with stroke risk. The prevalence of bilateral carotid artery stenosis (BCAS) varies. This study aims to evaluate the clinical outcomes and complications associated with carotid artery stenting in patients with BCAS or occlusion in a comprehensive stroke center.Methods: The data of patients who underwent carotid artery stenting (CAS) between January 2020 and September 2024 were scanned. The demographic data and comorbidities were noted from the patients’ files. Then, the patients were divided into two groups. The first group is “bilateral 50%–99% ICA stenosis” and the second group is “one side ICA occluded contralateral side ICA ≥50% stenosis”. Both groups were also listed as symptomatic and asymptomatic. Demographic and endovascular procedure data were analyzed.Results: A total of 82 patients were included in this study, 69 male (84.14%) and 13 female (15.85%). The mean age was 69.46 ± 7.24. Hypertension (HT) was the most common comorbid disease (69.51%). Sixty‐six patients (80.50%) were symptomatic and 16 (19.50%) were asymptomatic. TIA developed in one patient in the first group. Two minor (The National Institutes of Health Stroke Scale [NIHSS] 1–3) and two major strokes developed in the second group. Only three patients (two in the first group, one in the second group) underwent postdilatation balloon angioplasty.Conclusion: Endovascular treatment seems to be an acceptable strategy in comprehensive stroke centers where the possible complication risks can be well managed in this group of patients.