Intracranial subarachnoid hemorrhage resulting from non-cervical spinal arteriovenous lesions: Analysis of possible cause of bleeding and literature review Publication date: September 2019 Source: Clinical Neurology and Neurosurgery, Volume 184 Author(s): He Yue, Wang Ling, Yibo Ou, Hanmin Chen, Zhang Po, Baofeng Wang, Jiasheng Yu, Dongsheng Guo Abstract
Subarachnoid hemorrhage (SAH) or intraventricle hemorrhage (IVH) with negative cerebral digital subtraction angiography (DSA) results, which are due to non-cervical spinal arteriovenous lesions, are uncommon. In this article we presented three cases from our hospital and nineteen cases from prior published literature and discussed clinical features, possible mechanisms underlying the hemorrhage and therapeutic strategies for managing this unusual entity. Our analysis revealed that headache was the most common initial symptom. Almost 60% of patients had symptoms related to the spinal cord at admission. Intramedullary arteriovenous malformations (AVM) were the most common type of malformation, and the thoracic segment was the most common location of the non-cervical spinal arteriovenous lesions. More than half of the patients had additional aneurysms. Surgery was chosen as the primary treatment modality in this series. Therefore, we speculate that thoracolumbar spinal arteriovenous lesions are an unusual cause of intracranial SAH with negative cerebral DSA results. If non-cervical spinal AVMs were associated with DSA-negative SAH, the pattern of hemorrhage could be manifested as the blood in supratentorial cisterns, the fourth ventricle or no copious blood around the foramen magnum as well (somewhat paradoxically), it depends on the timing of detection and image evaluation. The formation and the rupture of associated aneurysms were the most likely immediate cause of the intracranial SAH. If non-cervical spinal AVMs were not associated with DSA-negative SAH and all cases were genuine cases of 'SAH-of-unknown origin', the spinal AVM could be considered as incidental finding. Magnetic resonance imaging (MRI) of the complete spinal neuraxis is recommended to either exclude or identify a spinal lesion in these patients. Catheter-based spinal angiography remains the gold standard for the diagnosis of spinal vascular diseases. The decision regarding a therapeutic strategy is based on the angioarchitecture and on the type of spinal arteriovenous lesions.
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The role of the surgical technique in incidence of postoperative epileptic seizures in unruptured intracranial aneurysm clipping Publication date: September 2019 Source: Clinical Neurology and Neurosurgery, Volume 184 Author(s): Carmelo Lucio Sturiale, Alessio Albanese |
Viable treatment options for patients with symptomatic radiation necrosis treated with stereotactic radiosurgery and immunotherapy Publication date: September 2019 Source: Clinical Neurology and Neurosurgery, Volume 184 Author(s): Aatman Shah, Brianna Downey, Sarah T. Menacho |
“Limbic encephalitis with acute onset and Hu antibodies treated with rituximab: Paraneoplastic or non-paraneoplastic disorder?” Publication date: September 2019 Source: Clinical Neurology and Neurosurgery, Volume 184 Author(s): C. Lapucci, L. Benedetti, C. Tavarelli, C. Serrati, M. Godani, A. Schenone, D. Franciotta Abstract
Paraneoplastic limbic encephalitis (PLE) associated with Hu antibodies is a rare autoimmune disorder usually characterized by subacute onset of slowly progressive neurocognitive symptoms. Small cell lung carcinoma is the most frequent PLE-associated cancer, which negatively affects the prognosis of the disease. We report on a patient with acute onset of confusional state and disorganized speech. Cerebrospinal fluid analysis and brain MRI temporal lesions corroborated the diagnostic suspects toward infectious or autoimmune encephalitis but testing for onconeural antibodies suggested the alternative diagnosis of PLE, in the absence of cancer (total-body CT and PET were negative). The patient's serum was positive for Hu antibodies, thus leading to a diagnosis of PLE. First-line immunotherapies were ineffective on the neurocognitive symptoms, which improved after rituximab. Six months later, a retropharyngeal peri-jugular mass was histopathologically diagnosed as a metastasis of lung neuroendocrine tumor. Still clinically improved, the patient died from the oncological disease-related complications. Testing for onconeural antibodies should be considered in patients with clinico-radiological features of acute infectious or autoimmune encephalitis.
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Three novel mutations in a group of Chinese patients with X-linked Charcot-Marie-Tooth disease Publication date: September 2019 Source: Clinical Neurology and Neurosurgery, Volume 184 Author(s): Bin Chen, Songtao Niu, Xingao Wang, Xueying Yu, Hefei Tang, Hua Pan, Zaiqiang Zhang Abstract
The X-linked form of Charcot-Marie-Tooth disease type1 (CMTX1) is the second most common hereditary motor and sensory neuropathy caused by mutations in the gap junction beta 1 (GJB1) gene. Here, we report the clinical and genetic features of six unrelated Chinese patients with CMTX1, which were identified by genetic analysis. Among the 6 identified mutations, 3 were previously unknown (c.31A > T, c.42 C > G and c.423 del C). The six patients showed typical signs of CMT with a median age of onset of 16.5 years (range: 13–30). Sensorineural hearing loss was confirmed in the patient with the c.423 del C mutation. White matter lesions on brain magnetic resonance imaging (MRI) were observed in two patients. The three newly identified GJB1 mutations expand the clinical and mutational spectrum of CMTX1.
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The first case report of McLeod syndrome in an infant with a novel mutation (c.89C>A, p. Ser30X) in XK Publication date: September 2019 Source: Clinical Neurology and Neurosurgery, Volume 184 Author(s): Pei-Chao Tian, Yue Wang, Zheng Chen, Dan-Dan Shi, Huai-li Wang, Qiang Luo Abstract
McLeod syndrome (MLS) is a rare multisystem disorder and X-linked recessive inheritance disorder caused by mutations of the X-linked Kx blood group (XK) gene. The manifestations progress slowly and mainly appear in middle age, which make it difficult to distinguish MLS from other neuromuscular disorders. Here, we present a case of a 10-month-old Chinese boy who was taken to hospital for herpes of the extremities and oral cavity along with febrile seizures in June 2017. The laboratory test revealed persistent elevated levels of serum creatine phosphokinase and abnormal liver function. The results of the electrocardiogram showed sinus tachycardia, and magnetic resonance imaging of the brain showed enlarged bilateral ventricles and third ventricle. Genetic analysis by next-generation sequencing revealed a novel nonsense mutation c.89C > A (p. Ser30X) in exon 1 of XK. To the best of our knowledge, this is the first case report of infants with MLS confirmed by genetic analysis.
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Megalencephalic leukoencephalopathy with subcortical cysts without macrocephaly: A case study of comorbid Turner’s syndrome Publication date: September 2019 Source: Clinical Neurology and Neurosurgery, Volume 184 Author(s): Klára Brožová, Hana Krásničanová, Robert Rusina Abstract
We present a case of megalencephalic leukoencephalopathy with subcortical cysts without macrocephaly and who initially presented with severe psychiatric symptoms. The patient presented with presented with late-onset secondary generalized focal motor seizures, gait ataxia and mild spasticity with hyperreflexia. MRI showed diffuse white matter hyperintensities and bilateral anterotemporal cysts. Genetic analysis confirmed the causal MLC1 mutation and Turner's syndrome. Surprisingly, our patient had no macrocephaly, which is a typical finding in MCL1 mutations; we emphasize that comorbid unrelated Turner's syndrome could explain the absence of macrocephaly: although short stature is typical, microcephaly is not associated with Turner's syndrome. Our observation thus argues for detailed investigations in cases presenting with an atypical clinical picture.
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Clinical characteristics, treatment and prognosis of paediatric patients with metastatic neuroblastoma to the brain Publication date: September 2019 Source: Clinical Neurology and Neurosurgery, Volume 184 Author(s): Huimin Hu, Weiling Zhang, Dongsheng Huang, Yizhuo Wang, Yi Zhang, You Yi, Aiping Liu, Jing Li AbstractObjectiveNeuroblastoma (NB) is the most common extracranial solid malignancy in children. Metastatic involvement of brain is rare in NB. This study was established to evaluate the clinical characteristics, treatment and prognosis of NB patients with brain metastases.Patients and methodsFrom September 2005 to December 2016, the clinical data of 15 cases with brain metastases among 264 NB patients admitted to Beijing Tongren Hospital, Capital Medical University were collected and retrospectively analysed. The clinical features of the 15 patients were summarised, and the patients were grouped according to different treatment methods and followed up for a median time of 41 months. The survival curves were plotted, and the Log-rank test was performed to compare the effect of different treatment methods on the prognosis.ResultsThe proportion of brain metastases in NB patients in our hospital is 5.68% (15/264). For the prognosis of 15 NB cases, the survival time of combined radiotherapy and/or autologous peripheral blood stem cell transplantation group was longer than that of simple operation and chemotherapy group (61.79 ± 9.59 vs. 30.00 ± 5.99 months, P = 0.03). Among the 15 patients, 4 cases underwent intracranial tumor resection, 4 cases received craniospinal irradiation, and the rest received maintenance chemotherapy. The 2-year survival rate was 82.2%, and the 5-year survival rate was 19.9%. The survival time of combined intracranial surgery and/or radiotherapy group was significantly longer than that of the chemotherapy group (46.67 ± 6.69 vs. 16.42 ± 1.42 months, P = 0.003).ConclusionsThe incidence of brain metastases NB in children is relatively small, but the prognosis is very poor. Active chemotherapy, radiotherapy and surgery-based comprehensive treatment can prolong the survival time. |
The roles of galectin-3 and galectin-4 in the idiopatic Parkinson disease and its progression Publication date: September 2019 Source: Clinical Neurology and Neurosurgery, Volume 184 Author(s): Tuğba Cengiz, Saadet Türkboyları, Onur Serdar Gençler, Ömer Anlar AbstractObjectives: Idiopathic Parkinson's Disease is a neurodegenerative disease caused by the loss of cells that secrete dopamine in the basal ganglia. Galectins are multipotent, evolutionarily conserved, cell surface glycoconjugated and crosslinked carbohydrate-binding proteins. The roles of these proteins in the diagnosis of the disease have been investigated.Patient and Methods: Patients who were diagnosed with idiopathic Parkinson's disease were classified as early (stage 1–2) and advanced stage (stage 3–5) according to the Hoehn-Yahr classification. In addition, voluntary cases without parkinson disease constituted the control group. Serum samples of consecutive Parkinson patients and age and gender matched healthy controls were used to measure serum galectin-3 and serum galectin-4 levels. The levels were compared between Parkinson's patients and control groups and early and advanced stage Parkinson's groups.Results: Thirty age and gender-matched healthy controls and 60 parkinson patients were enrolled in the study. Serum galectin-3 levels were lower in controls compared with patients (892.9 (168.2–2416.3) vs. 2271.8 (375.9–9673.4), respectively, P < 0.01). Serum galectin-3 levels were related to Hoehn-Yahr stages and (r: 0.691, P < 0.001). The early stage group (20 patients) had lower serum galectin-4 levels compared with advanced stages (40 patients) (197.97 ± 46.42 vs. 334.263 ± 37, respectively, P < 0.01). Serum galectin-4 levels were also lower in controls compared with patients 185.1 (116.2–313.3) vs. 282.3 (156.9–984.8), respectively, P < 0.01. ROC analysis showed that serum galectin-3 and galectin-4 were statistically significant in the identification of Parkinson disease and advanced stages. The results were significant for galectin-3 (AUC: 0.89, SE: 0.034, P < 0.001 and CI: 0.823-0.958; P < 0.001) and for galectin-4 (AUC: 0.758, SE: 0.05, P < 0.001).Conclusion: Serum galectin-3 and galectin-4 may be potential noninvasive markers for the identification of Parkinson disease and advanced stages. |
IL18RAP polymorphisms and its plasma levels in patients with Lumbar disc degeneration Publication date: September 2019 Source: Clinical Neurology and Neurosurgery, Volume 184 Author(s): Sibin MK, Harshitha SM, Arati S, Chetan GK, Dhaval P Shukla, Dhananjaya I Bhat AbstractObjectivesLumbar disc degeneration (LDD) is a common musculoskeletal disorder. Interleukin 18 Receptor Accessory Protein (IL18RAP) gene is involved in disc degeneration and inflammatory processes like matrix degeneration. Hence, this study was performed to understand the role of 2 IL18RAP (rs1420106 and rs917997) polymorphisms and IL18RAP plasma levels in lumbar disc degeneration (LDD) in Indian population.Patients and methods200 LDD patients and 200 healthy controls were recruited for the study. Genotyping was performed using allelic discrimination assay. IL18RAP levels were measured by ELISA.Resultsrs1420106 polymorphism did not follow Hardy Weinberg equilibrium, so it was not considered for association analysis. There was a significant association among females in CT genotype of rs917997 in LDD (p = 0.041). Also, among subjects with no history of alcohol consumption, CT allele was found to be significantly associated and had a protective effect (OR = 0.61). The plasma levels of IL18RAP were also measured. There was no significant difference in IL18RAP levels between patients and controls.ConclusionOverall, rs917997 polymorphism did not show any significant difference between patients and controls (p = 0.77). However, it showed a protective role in females and patients with no history of alcohol consumption in Indian population and there was no association between polymorphisms and IL18RAP plasma levels. |
Medicine by Alexandros G. Sfakianakis,Anapafseos 5 Agios Nikolaos 72100 Crete Greece,00302841026182,00306932607174,alsfakia@gmail.com,
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Κυριακή 11 Αυγούστου 2019
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Medicine by Alexandros G. Sfakianakis,Anapafseos 5 Agios Nikolaos 72100 Crete Greece,00302841026182,00306932607174,alsfakia@gmail.com,
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00302841026182,
00306932607174,
alsfakia@gmail.com,
Anapafseos 5 Agios Nikolaos 72100 Crete Greece,
Medicine by Alexandros G. Sfakianakis
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