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1.
Turk Neurosurg ; 34(3): 435-440, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38650558

RESUMEN

AIM: To investigate the effectiveness of local halofuginone application for spinal epidural fibrosis (EF) after lumbar laminectomy in rats. MATERIAL AND METHODS: Forty rats were equally divided into four groups (Groups I-IV; 10 rats in each group), and lumbar laminectomy was performed under general anesthesia. After laminectomy, Group I received saline (NaCl 0.9%) locally (control), Group II received spongostan, Group III received 0.5 mL of halofuginone-impregnated spongostan, and Group IV received 0.5 mL of halofuginone. Spongostan was used to prolong the exposure period of halofuginone. All rats were sacrificed after four weeks and evaluated according to histopathological criteria. A p-value of < 0.05 was considered statistically significant. RESULTS: Fibrosis was significantly lower in Group IV than in Group I (p < 0.05). There was no significant difference in fibrosis between Group II/III and Group I. It was observed that spongostan increased fibrosis. CONCLUSION: Halofuginone helps prevent EF after spinal surgery. However, further clinical and experimental studies are needed to assess its safety in humans.


Asunto(s)
Espacio Epidural , Fibrosis , Laminectomía , Piperidinas , Quinazolinonas , Animales , Fibrosis/tratamiento farmacológico , Ratas , Piperidinas/administración & dosificación , Laminectomía/efectos adversos , Quinazolinonas/administración & dosificación , Quinazolinonas/uso terapéutico , Espacio Epidural/patología , Masculino , Complicaciones Posoperatorias/tratamiento farmacológico , Vértebras Lumbares/cirugía , Modelos Animales de Enfermedad , Ratas Sprague-Dawley
2.
Pediatr Neurosurg ; 59(1): 1-13, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-37926092

RESUMEN

INTRODUCTION: Pediatric epilepsy surgery is an effective treatment modality for patients with drug-resistant epilepsy (DRE). Early pediatric surgery yields favorable results for DRE in terms of seizure control and neurophysiological outcome. In this study, pediatric patients were categorized based on their age (above 3 years old and below 3 years old) to demonstrate the effectiveness and safety of surgical procedures. METHODS: In this retrospective, single-center study, 60 pediatric patients who underwent epilepsy surgery at Istanbul Faculty of Medicine between 2002 and 2018 were evaluated. Overall morbidity and mortality rates, as well as seizure outcomes of the patients, were assessed and compared based on two age groups: those aged 3 years old or younger and those older than 3 years old. The effectiveness of invasive monitoring was also evaluated in relation to pathological results. The postoperative seizure outcome rates were evaluated using Engel's classification, with an average follow-up period of 8.7 years. RESULTS: Out of the total number of patients, 47 (78.4%) underwent resective surgery, while 13 (21.6%) had palliative surgery. Ten patients (16.6%) had invasive monitoring. Among all patients, 34 were classified as Engel I and II (56.6%), while 26 were classified as Engel III and IV (43.4%) postoperatively. 47% of patients who were under 3 years old, 60.4% of patients who were over 3 years old, and 50% of patients who underwent invasive monitoring had a favorable seizure outcome (Engel I-II). Postoperative morbidity and mortality rates were 35% (n = 21) and 1.6% (n = 1), respectively. CONCLUSION: Pediatric epilepsy surgery is an important treatment modality for preserving cognitive abilities and providing effective treatment for pediatric DRE. In our study, we claim that both invasive monitoring and epilepsy surgery lead to favorable seizure outcomes for all age groups. Further clinical studies should be conducted to provide more reliable data on the safety and effectiveness of the surgery, particularly in patients under the age of three.


Asunto(s)
Epilepsia Refractaria , Epilepsia , Niño , Humanos , Preescolar , Epilepsia Refractaria/cirugía , Estudios Retrospectivos , Electroencefalografía , Epilepsia/cirugía , Convulsiones , Resultado del Tratamiento
3.
Oper Neurosurg (Hagerstown) ; 25(6): e345-e351, 2023 Dec 01.
Artículo en Inglés | MEDLINE | ID: mdl-37820101

RESUMEN

BACKGROUND AND IMPORTANCE: Full-endoscopic techniques are well-described for spinal procedures. Although endoscopic-assisted techniques are reported for posterior fossa decompression (PFD) in Chiari malformation (CM), a full-endoscopic technique is yet to be reported in these patients. The aim of this study was to present and describe a full-endoscopic technique for PFD in patients with CM. CLINICAL PRESENTATION: Two patients diagnosed with CM were operated on by the full-endoscopic PFD technique. The patients consented to the procedure and to the publication of their image. An endoscope with an oval shaft cross-section with a diameter of 9.3 mm, a working length of 177 mm, a viewing angle of 20°, and a working channel of 5.6 diameters were used. Operative videos were recorded. The surgical steps were easily applied after the clear anatomic landmarks, such as the C1 posterior tubercle and the rectus capitis posterior minor muscles. The patients were followed up for 6 months. Both patients were symptom-free with a significant decrease in Visual Analog Scale score and a good functional outcome assessed by Chicago Chiari Outcome Scale after surgery without any complications. CONCLUSION: All the steps of the full-endoscopic technique for PFD described by the authors in their previous human cadaveric study were also feasible on patients with CM.


Asunto(s)
Malformación de Arnold-Chiari , Descompresión Quirúrgica , Humanos , Descompresión Quirúrgica/métodos , Estudios Retrospectivos , Fosa Craneal Posterior/diagnóstico por imagen , Fosa Craneal Posterior/cirugía , Malformación de Arnold-Chiari/diagnóstico por imagen , Malformación de Arnold-Chiari/cirugía
5.
Front Surg ; 10: 1174144, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37334201

RESUMEN

Introduction: Colloid cysts (CCs) are rare benign lesions that usually arise from the roof of the third ventricle. They may present with obstructive hydrocephalus and cause sudden death. Treatment options include ventriculoperitoneal shunting, cyst aspiration, and cyst resection microscopically or endoscopically. This study aims to report and discuss the full-endoscopic technique for removing colloid cysts. Materials and methods: A 25°-angled neuroendoscope with an internal working channel diameter of 3.1 mm and a length of 122 mm is used. The authors described the technique of resecting a colloid cyst by a full-endoscopic procedure and evaluated the surgical, clinical, and radiological results. Results: Twenty-one consecutive patients underwent an operation with a transfrontal full-endoscopic approach. The swiveling technique (grasping the cyst wall and rotational movements) was used for CC resection. Of these patients, 11 were female, and ten were male (mean age, 41 years). The most frequent initial symptom was a headache. The mean cyst diameter was 13.9 mm. Thirteen patients had hydrocephalus at admission, and one needed shunting after cyst resection. Seventeen patients (81%) underwent total resection; 3 (14%), subtotal resection; and 1 (5%), partial resection. There was no mortality; one patient had permanent hemiplegia, and one had meningitis. The mean follow-up period was 14 months. Conclusion: Even though microscopic resection of cysts has been widely used as a gold standard, successful endoscopic removal has been described recently with lower complication rates. Applying angled endoscopy with different techniques is essential for total resection. Our study is the first case series to show the outcomes of the swiveling technique with low recurrence and complication rates.

6.
Ulus Travma Acil Cerrahi Derg ; 29(4): 514-522, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-36995197

RESUMEN

BACKGROUND: Subdural empyemas (SDEs) are rare intracranial infections mostly secondary to sinusitis. Incidence of SDEs is 5-25%. Interhemispheric SDEs are even rarer, which makes their diagnosis and treatment difficult. Aggressive surgical interventions and wide-spectrum antibiotics are needed for treatment. In this retrospective clinical study, we intended to evaluate the results of surgical management supported by antibiotics in patients with interhemispheric SDE. METHODS: Clinical and radiological features, medical and surgical management and outcomes of 12 patients treated for interhemi-spheric SDE have been evaluated. RESULTS: 12 patients were treated for interhemispheric SDE between 2005 and 2019. Ten (84%) were male, two (16%) were female. Mean age was 19 (7-38). Most common complaint was headache (100%). Five patients were diagnosed with frontal sinusitis prior SDE. Initially, three patients (27%) underwent burr hole aspiration and ten patients (83%) underwent craniotomy. In one patient both were done in the same session. Six patients were reoperated (50%). Weekly magnetic resonance imaging and blood tests were used for follow-up. All patients received antibiotics for at least 6 weeks. There was no mortality. Mean follow-up period was 10 months. CONCLUSION: Interhemispheric SDEs are rare, challenging intracranial infections that have been related to high morbidity and mor-tality rates in the past. Both antibiotics and surgical interventions play role in treatment. Careful choice of surgical approach and repeated surgeries if necessary, accompanied by appropriate antibiotic regimen, leads to good prognosis reducing morbidity and mortality.


Asunto(s)
Empiema Subdural , Humanos , Masculino , Femenino , Adulto Joven , Adulto , Empiema Subdural/diagnóstico , Empiema Subdural/cirugía , Empiema Subdural/etiología , Estudios Retrospectivos , Tomografía Computarizada por Rayos X , Craneotomía/efectos adversos , Antibacterianos/uso terapéutico
7.
Turk Neurosurg ; 33(1): 63-69, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36924006

RESUMEN

AIM: To describe, and to evaluate the clinical and radiological characteristics of pediatric cavernous malformations (CMs) and the surgical approaches and their outcomes in a single center. MATERIAL AND METHODS: We retrospectively reviewed pediatric patients with CMs that were treated in our center between 2010 and 2020. Radiological, clinical, and demographic features, as well as treatment details were evaluated. RESULTS: Of 23 patients, 12 were male, and 11 were female. Two patients with multiple CMs had a family history. The most common symptoms were headaches (9/23, 39.1%) and seizures (9/23, 39.1%). Twenty patients had single lesions and three patients had multiple lesions. According to Zabramski classification, eight (34.7%) patients had type 1, 11 (47.8%) had type 2 and four (17.3%) had type 3 lesions. Thirteen patients had recurrent preoperative hemorrhages and nine had increased lesion size. Seven patients (30.4%) had coexisting deep venous anomalies in the CM vicinity. Twenty-one patients underwent microsurgical resection (5/23 simple lesionectomy, 16/23 lesionectomy + resection of the surrounding hemosiderin ring). All lesions were completely resected. No surgical mortalities or major complications occurred. CONCLUSION: Since pediatric CMs are more aggressive than adult CMs, they should not be underestimated. Microsurgical total resection should be the first treatment choice where possible. We concluded that early surgical treatment and resection of perilesional hemosiderin-stained tissue, when feasible, yield the most favorable results at long-term follow-up including seizure outcomes.


Asunto(s)
Hemangioma Cavernoso del Sistema Nervioso Central , Adulto , Humanos , Niño , Masculino , Femenino , Estudios Retrospectivos , Hemangioma Cavernoso del Sistema Nervioso Central/complicaciones , Hemangioma Cavernoso del Sistema Nervioso Central/diagnóstico por imagen , Hemangioma Cavernoso del Sistema Nervioso Central/cirugía , Hemosiderina , Resultado del Tratamiento , Procedimientos Neuroquirúrgicos/métodos , Convulsiones/etiología , Convulsiones/cirugía
8.
Br J Neurosurg ; 37(3): 374-376, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-32436447

RESUMEN

We report three cases of spontaneously fused distractive flexion injury (DFI) in the cervical spine detected several years after the trauma. This is the first report in the literature that describes such late presentation of healed DFI. Although injuries are considered highly unstable requiring fusion surgery, all three healed spontaneously without intervention or immobilization. Despite significant misalignment, stability was confirmed with flexion-extension radiographs. All the three patients had no neurologic deficits. The possibility of healed old DFI should be kept in mind for patients who present with neck pain and a history of high-energy trauma.


Asunto(s)
Traumatismos Vertebrales , Humanos , Traumatismos Vertebrales/cirugía , Radiografía , Vértebras Cervicales/diagnóstico por imagen , Vértebras Cervicales/cirugía , Vértebras Cervicales/lesiones , Dolor de Cuello/etiología
9.
Turk Neurosurg ; 32(3): 500-507, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35615769

RESUMEN

AIM: To evaluate isocitrate dehydrogenase (IDH) mutation status and Ki67 percentages of tumors that were treated in our institution to determine whether these markers affected the initial diagnosis and survival rates. MATERIAL AND METHODS: High-grade glioma patients, who were operated in our department between 2013 and 2018, were enrolled in the study and retrospectively reviewed. New immunohistochemistry staining studies were conducted and survival analyses were performed. RESULTS: Of 135 patients and 136 tumors, 117 were glioblastoma multiforme (GBM), 8 were grade III-IV glioma, 4 were anaplastic astrocytoma and 7 were anaplastic oligodendroglioma. One patient had two different lesions, which were GBM and anaplastic astrocytoma respectively. Mean age was 55 (7-85) years, and 88 (65%) were male and 47 (35%) were female. The most common complaint was motor deficit (56%). Fourteen patients underwent reoperation due to recurrent disease. Tumors were most commonly found in the frontal lobe (53, 39%). Magnetic resonance imaging (MRI) features showed that existence of necrosis is strongly related to GBM (p < 0.01). Approximately 126 patients were found to be IDH-wildtype, which changed 6 patients? diagnosis to GBM, IDH wildtype from grade III-IV glioma. Five patients, who were diagnosed with anaplastic astrocytoma and anaplastic oligodendroglioma initially were found to be IDH wildtype. IDH mutation status, extend of resection, and age were found to affect survival. CONCLUSION: IDH mutation status is important in classifying high-grade gliomas, as well as its effects on prognosis. This mutation is related to several radiological features of tumors. Extent of resection and patient age are also profoundly affect survival. Detailing the diagnosis with molecular features will help physicians to shape targeted adjuvant therapies, which would better outcomes.


Asunto(s)
Astrocitoma , Biomarcadores de Tumor , Glioblastoma , Glioma , Astrocitoma/genética , Astrocitoma/cirugía , Neoplasias Encefálicas/clasificación , Neoplasias Encefálicas/patología , Neoplasias Encefálicas/cirugía , Femenino , Glioblastoma/clasificación , Glioblastoma/patología , Glioblastoma/cirugía , Glioma/clasificación , Glioma/patología , Glioma/cirugía , Humanos , Inmunohistoquímica , Isocitrato Deshidrogenasa/genética , Antígeno Ki-67 , Masculino , Persona de Mediana Edad , Oligodendroglioma/clasificación , Oligodendroglioma/patología , Oligodendroglioma/cirugía , Pronóstico , Estudios Retrospectivos , Organización Mundial de la Salud
10.
Childs Nerv Syst ; 37(12): 3733-3742, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-34550414

RESUMEN

PURPOSE: Medulloblastoma is one of the most common malignant brain tumors in the pediatric population. Recent studies identified four distinct medulloblastoma subgroups with different molecular alterations and pathways, and natural courses and outcomes. To evaluate the results of surgical and medical treatments of patients with medulloblastoma and compare them among the medulloblastoma subgroups. METHODS: The clinical and radiological features, medical and surgical management and treatment outcomes and their correlation with molecular subgroups of 58 patients treated for medulloblastoma in the last 20 years were evaluated. RESULTS: Fifty-eight patients, of whom 35 were male and 23 were female, were evaluated. The median age was 6 years (range, 1-19 years). The most common symptoms were nausea and vomiting (60%). Forty-three percent of the patients had headache and 40% had ataxia. Previous pathology reports revealed that 43 (74%), eight (14%), five (8%), and two (3%) had classic, desmoplastic, desmoplastic/nodular, and anaplastic morphologies, respectively. After the subgroup analyses, five patients (12%) were attributed to the wingless subgroup (WNT) group; 14 (32.5%), to the sonic hedgehog subgroup (SHH) group; and 24 (56%), to the non-WNT non-SHH group. On the basis of immunohistochemical analysis results, 15 patients could not be attributed to any subgroups. The clinical risk groups (average vs high-risk) and age at diagnosis (≥ 3 years vs < 3 years of age) were significant for 5-year event free survival (86% vs 43%, p:0.011 and 59% vs 36%, p:0.039). There was no significant difference in survival or event free survival according to molecular subtypes in this cohort. CONCLUSION: In corporation of molecular features to the clinicopathologic classification leads to risk-adapted treatment. Although the molecular subgroups did not affect outcome significantly in this study, more studies with larger numbers of patients are needed to understand the tumor pathophysiology of medulloblastoma and design the future medical practice.


Asunto(s)
Neoplasias Cerebelosas , Meduloblastoma , Adolescente , Neoplasias Cerebelosas/genética , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Meduloblastoma/diagnóstico por imagen , Pronóstico , Adulto Joven
11.
World Neurosurg ; 153: e373-e379, 2021 09.
Artículo en Inglés | MEDLINE | ID: mdl-34217860

RESUMEN

BACKGROUND: In patients with hydrocephalus who undergo ventriculoperitoneal shunt placement, the ventricular catheter tip position is one of the most important prognostic factors influencing shunt survival. The aim of this study was to present our findings of ventriculoperitoneal shunt placement performed with intraoperative computed tomography (CT) and to evaluate the effect of intraoperative CT-based image guidance on optimal catheter positioning and overall shunt survival. METHODS: Of the study enrolled 345 patients with hydrocephalus who underwent ventriculoperitoneal shunt placement for the first time between 2008 and 2018. Ventricular catheters were inserted freehand via the Kocher point into the lateral ventricle in all patients. In 163 patients, intraoperative CT was performed to confirm the tip position. In this group of patients, if the tip position was nonoptimal, the catheter was ejected and reinserted during the surgery. In the remaining 182 patients, the tip position was assessed with routine postoperative CT. The effect of performing intraoperative CT on catheter tip positioning and shunt failure was investigated. RESULTS: Nonoptimal tip position was significantly correlated with shunt dysfunction even when excluding nonobstructive causes (P < 0.001). In the intraoperative CT group, 11 ventricular catheters (6.7%) were intraoperatively repositioned. The repositioning significantly improved the optimal tip position rate from 54% to 58.3% (P = 0.007). Intraoperative CT usage also showed direct correlation with shunt survival (P = 0.006). CONCLUSIONS: Intraoperative CT is an effective tool for increasing the rate of optimal tip positioning and thereby overall shunt survival.


Asunto(s)
Hidrocefalia/cirugía , Cirugía Asistida por Computador/métodos , Tomografía Computarizada por Rayos X/métodos , Derivación Ventriculoperitoneal/métodos , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Falla de Equipo , Femenino , Humanos , Lactante , Recién Nacido , Periodo Intraoperatorio , Masculino , Persona de Mediana Edad , Adulto Joven
12.
World Neurosurg ; 138: e354-e360, 2020 06.
Artículo en Inglés | MEDLINE | ID: mdl-32142946

RESUMEN

OBJECTIVE: The aim to evaluate central sarcopenia, as measured by psoas cross-sectional area on admission imaging, is associated with outcomes in patients with vertebral compression fractures (VCFs) treated with percutaneous vertebral augmentation treatment. METHODS: We evaluated the records of patients aged >60 years treated with vertebroplasty or kyphoplasty between 2009 and 2018 for osteoporotic VCFs. The Social Security Death Index was used to determine death. We used the psoas:lumbar vertebral index (PLVI), calculated using the cross-sectional area of the L4 vertebral body and the left and right psoas muscles, to assess for sarcopenia. A multivariate Cox algorithm was applied to recognize factors independently associated with survival. RESULTS: A total of 103 patients were included with an average age of 72.3 years. During the study period, 22 (21.4%) patients were deceased, whereas 81 (78.6%) were alive. The survival rates at 1 month, 6 months, and 1 year after surgery were 99%, 94.1%, and 88.4%, respectively. PLVI measurements ranged from 0.24-1.19 with a mean of 0.59 ± 0.17 and a median of 0.603. A total of 51 patients with a median value of 0.603 were defined as low PLVI group, and 52 patients with a median value of ≥0.603 were defined as the high PLVI group. PLVI was significantly low in patients who died. Age, American Society of Anesthesiologists score, and PLVI value were independently associated with a poor overall survival. CONCLUSIONS: There is a significant correlation between sarcopenia and postoperative mortality after vertebral augmentation procedure in patients with VCFs.


Asunto(s)
Fracturas Osteoporóticas/complicaciones , Fracturas Osteoporóticas/cirugía , Sarcopenia/complicaciones , Fracturas de la Columna Vertebral/complicaciones , Fracturas de la Columna Vertebral/cirugía , Anciano , Anciano de 80 o más Años , Femenino , Fracturas por Compresión/complicaciones , Fracturas por Compresión/mortalidad , Fracturas por Compresión/cirugía , Humanos , Masculino , Persona de Mediana Edad , Procedimientos Quirúrgicos Mínimamente Invasivos/métodos , Fracturas Osteoporóticas/mortalidad , Estudios Retrospectivos , Factores de Riesgo , Fracturas de la Columna Vertebral/mortalidad , Resultado del Tratamiento , Vertebroplastia/métodos
13.
World Neurosurg ; 138: e486-e491, 2020 06.
Artículo en Inglés | MEDLINE | ID: mdl-32147551

RESUMEN

OBJECTIVE: The aim of this study is to provide essential information for endoscopic transforaminal approach by performing morphometric analysis of the triangular working zone (TWZ) in fresh cadavers. METHODS: Fifteen fresh human cadavers (9 women and 6 men) with no history of spinal surgery were used in this study. Anatomic dissection of 150 foraminal levels were performed. Significant surgical landmarks constructing TWZ were measured bilaterally from L1-2 to L5-S1 on 15 fresh cadavers. The relationship between traversing roots and intervertebral discs was defined. RESULTS: Base, height, and hypotenuse measurements of TWZ were longer as the level lowered. Mean base height and hypotenuse of TWZ were 12.15 mm, 11.29 mm, and 16.69 mm (L1-2); 17.94 mm, 17.18 mm, and 28.03 mm (L5-S1), respectively. TWZ was triangular shaped at the upper lumbar levels (L1-2, L2-3, and L3-4), and trapezoid at the lower lumbar levels (L4-5 and L5-S1). Going down the levels, the exiting root angle was narrower, the mean exiting angle of the L5 root being 28.23°. All L2 and L3 traversing roots and nearly all L4 traversing roots (86.7%) originated from below the disc level. Forty percent of L5 traversing roots originated above the disc level, and 53.3% originated at the disc level. Most S1 traversing roots originated at the proximal margin of the disc level (80%). CONCLUSIONS: Our study reveals a detailed morphometric analysis of TWZ. Understanding the foraminal anatomy is crucial for safely performing transforaminal endoscopic surgery. The learning curve of transforaminal surgery can be reduced by garnering knowledge of TWZ anatomy.


Asunto(s)
Endoscopía/métodos , Vértebras Lumbares/cirugía , Procedimientos Ortopédicos/métodos , Femenino , Humanos , Masculino
14.
Turk Neurosurg ; 27(4): 546-557, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-27337241

RESUMEN

AIM: To compare the clinical results of different transcortical approaches for the removal of third ventricular colloid cysts (CC). MATERIAL AND METHODS: Records of 41 colloid cyst patients who underwent transcortical conventional microsurgical, microsurgical with the aid of stereotactically guided cylindrical retractor (minitubular), and endoscopic removal between 1999 and 2015 were retrospectively analyzed. The clinical results of these three different transcortical surgical approaches were compared and a literature review of published series was conducted. RESULTS: Ages ranged between 16 and 66 years (mean: 36.8). There were 18 female and 23 male patients. Headache was the main presenting symptom. The mean CC diameter was 15.5 mm. Intraventricular hemorrhage was encountered in 2 patients. Three patients needed postoperative ventriculoperitoneal shunt surgery. Postoperative seizures were seen in 3, postoperative neurological deficit in 3 and residual tumor in 2 patients. The conventional approach resulted in significantly higher rates of postoperative seizure compared to the minitubular and endoscopic approaches (p=0.012). The rate of residual cyst was significantly higher in endoscopic approach compared to conventional and minitubular approaches (p=0.024). Conventional approach led to significantly higher rates of neurological deficit compared to the two other approaches (p < 0.05). CONCLUSION: With respect to complication rates, the stereotactic and endoscopic approaches are both safe and reliable compared to conventional microsurgical approach that has unacceptably high rates of seizures and neurological deficit. Concerning completeness of removal, both microsurgical approaches are by far superior to neuroendoscopy. The stereotactic microsurgical approach compares favorably in both respects with endoscopic and conventional microsurgical approaches.


Asunto(s)
Quiste Coloide/cirugía , Microcirugia/efectos adversos , Neuroendoscopía/efectos adversos , Complicaciones Posoperatorias/epidemiología , Adolescente , Adulto , Anciano , Hemorragia Cerebral/cirugía , Femenino , Humanos , Imagenología Tridimensional , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Cirugía Asistida por Computador , Turquía/epidemiología , Adulto Joven
16.
Eur J Med Genet ; 58(1): 39-43, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-25220016

RESUMEN

N-glycanase 1 (NGLY1) is a conserved enzyme that is responsible for the deglycosylation of misfolded N-glycosylated proteins in the cytoplasm prior to their proteasome-mediated degradation. Disruption of this degradation process has been associated with various neurologic diseases including amyotrophic lateral sclerosis and Parkinson's disease. Here, we describe two siblings with neuromotor impairment, apparent intellectual disability, corneal opacities, and neuropathy who were found to possess a novel homozygous frame-shift mutation due to a 4 base pair deletion in NGLY1 (c.1533_1536delTCAA, p.Asn511LysfsX51). We hypothesize that this mutation likely limits the capability of neuronal cells to respond to stress due to accumulation of misfolded proteins, thereby impairing their survival and resulting in progressive loss of neurological function.


Asunto(s)
Discapacidades del Desarrollo/genética , Discapacidad Intelectual/genética , Trastornos del Movimiento/genética , Péptido-N4-(N-acetil-beta-glucosaminil) Asparagina Amidasa/genética , Enfermedades del Sistema Nervioso Periférico/genética , Anomalías Múltiples/genética , Adolescente , Niño , Opacidad de la Córnea/genética , Femenino , Mutación del Sistema de Lectura , Genotipo , Humanos , Masculino
17.
Neuron ; 84(6): 1226-39, 2014 Dec 17.
Artículo en Inglés | MEDLINE | ID: mdl-25521378

RESUMEN

Exome sequencing analysis of over 2,000 children with complex malformations of cortical development identified five independent (four homozygous and one compound heterozygous) deleterious mutations in KATNB1, encoding the regulatory subunit of the microtubule-severing enzyme Katanin. Mitotic spindle formation is defective in patient-derived fibroblasts, a consequence of disrupted interactions of mutant KATNB1 with KATNA1, the catalytic subunit of Katanin, and other microtubule-associated proteins. Loss of KATNB1 orthologs in zebrafish (katnb1) and flies (kat80) results in microcephaly, recapitulating the human phenotype. In the developing Drosophila optic lobe, kat80 loss specifically affects the asymmetrically dividing neuroblasts, which display supernumerary centrosomes and spindle abnormalities during mitosis, leading to cell cycle progression delays and reduced cell numbers. Furthermore, kat80 depletion results in dendritic arborization defects in sensory and motor neurons, affecting neural architecture. Taken together, we provide insight into the mechanisms by which KATNB1 mutations cause human cerebral cortical malformations, demonstrating its fundamental role during brain development.


Asunto(s)
Adenosina Trifosfatasas/genética , Encéfalo/anomalías , Encéfalo/patología , Microcefalia/genética , Células-Madre Neurales/patología , Neurogénesis/genética , Lóbulo Óptico de Animales no Mamíferos/anomalías , Animales , Encéfalo/crecimiento & desarrollo , Recuento de Células , División Celular/genética , Dendritas/genética , Drosophila , Proteínas de Drosophila/genética , Humanos , Katanina , Ratones , Microcefalia/patología , Proteínas Asociadas a Microtúbulos/genética , Mutación , Huso Acromático/genética , Pez Cebra
18.
Turk Neurosurg ; 24(3): 63-69, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24848188

RESUMEN

On behalf of all authors, I respectfully request the retraction of our article, "Primary Cerebellopontine Angle Rathke's Cleft Cyst: Case Report" (Turk Neurosurg, published online 2014, Vol: 24, No: 3; DOI: DOI: 10.5137/1019-5149. JTN.8084-13.1). This request is based on multiple problems with our study.


Asunto(s)
Quistes del Sistema Nervioso Central/diagnóstico , Enfermedades Cerebelosas/diagnóstico , Ángulo Pontocerebeloso/patología , Adulto , Humanos , Masculino
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