RESUMO
Pineal neoplasms have a significant impact on children although they are relatively uncommon. They account for approximately 3-11% of all childhood brain tumors, which is considerably higher than the <1% seen in adult brain tumors. These tumors can be divided into three main categories: germ cell tumors, parenchymal pineal tumors, and tumors arising from related anatomical structures. Obtaining an accurate and minimally invasive tissue diagnosis is crucial for selecting the most appropriate treatment regimen for patients with pineal gland tumors. This is due to the diverse treatment options available and the potential risks associated with complete resection. In cases where patients present with acute obstructive hydrocephalus caused by a pineal gland tumor, immediate treatment of the hydrocephalus is necessary. The urgency stems from the potential complications of hydrocephalus, including increased intracranial pressure and neurological deficits. To address these challenges, a minimally invasive endoscopic approach provides a valuable opportunity. This technique allows clinicians to promptly relieve hydrocephalus and obtain a histological diagnosis simultaneously. This dual benefit enables a more comprehensive understanding of the tumor and assists in determining the most effective treatment strategy for the patient.
Assuntos
Neoplasias Encefálicas , Glândula Pineal , Pinealoma , Ventriculostomia , Humanos , Ventriculostomia/métodos , Glândula Pineal/cirurgia , Glândula Pineal/patologia , Pinealoma/cirurgia , Pinealoma/patologia , Neoplasias Encefálicas/cirurgia , Neoplasias Encefálicas/patologia , Biópsia/métodos , Hidrocefalia/cirurgia , Hidrocefalia/patologia , Terceiro Ventrículo/cirurgia , Terceiro Ventrículo/patologia , Neuroendoscopia/métodosRESUMO
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.
Assuntos
Espaço Epidural , Fibrose , Laminectomia , Piperidinas , Quinazolinonas , Animais , Fibrose/tratamento farmacológico , Ratos , Piperidinas/administração & dosagem , Laminectomia/efeitos adversos , Quinazolinonas/administração & dosagem , Quinazolinonas/uso terapêutico , Espaço Epidural/patologia , Masculino , Complicações Pós-Operatórias/tratamento farmacológico , Vértebras Lombares/cirurgia , Modelos Animais de Doenças , Ratos Sprague-DawleyRESUMO
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.
Assuntos
Epilepsia Resistente a Medicamentos , Epilepsia , Criança , Humanos , Pré-Escolar , Epilepsia Resistente a Medicamentos/cirurgia , Estudos Retrospectivos , Eletroencefalografia , Epilepsia/cirurgia , Convulsões , Resultado do TratamentoRESUMO
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.
Assuntos
Malformação de Arnold-Chiari , Descompressão Cirúrgica , Humanos , Descompressão Cirúrgica/métodos , Estudos Retrospectivos , Fossa Craniana Posterior/diagnóstico por imagem , Fossa Craniana Posterior/cirurgia , Malformação de Arnold-Chiari/diagnóstico por imagem , Malformação de Arnold-Chiari/cirurgiaRESUMO
[This corrects the article DOI: 10.3389/FSURG.2023.1174144.].
RESUMO
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 3.1â mm and a length of 122â 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 13.9â 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.
RESUMO
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.
Assuntos
Hemangioma Cavernoso do Sistema Nervoso Central , Adulto , Humanos , Criança , Masculino , Feminino , Estudos Retrospectivos , Hemangioma Cavernoso do Sistema Nervoso Central/complicações , Hemangioma Cavernoso do Sistema Nervoso Central/diagnóstico por imagem , Hemangioma Cavernoso do Sistema Nervoso Central/cirurgia , Hemossiderina , Resultado do Tratamento , Procedimentos Neurocirúrgicos/métodos , Convulsões/etiologia , Convulsões/cirurgiaRESUMO
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.
Assuntos
Empiema Subdural , Humanos , Masculino , Feminino , Adulto Jovem , Adulto , Empiema Subdural/diagnóstico , Empiema Subdural/cirurgia , Empiema Subdural/etiologia , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Craniotomia/efeitos adversos , Antibacterianos/uso terapêuticoRESUMO
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.
Assuntos
Traumatismos da Coluna Vertebral , Humanos , Traumatismos da Coluna Vertebral/cirurgia , Radiografia , Vértebras Cervicais/diagnóstico por imagem , Vértebras Cervicais/cirurgia , Vértebras Cervicais/lesões , Cervicalgia/etiologiaRESUMO
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.
Assuntos
Astrocitoma , Biomarcadores Tumorais , Glioblastoma , Glioma , Astrocitoma/genética , Astrocitoma/cirurgia , Neoplasias Encefálicas/classificação , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/cirurgia , Feminino , Glioblastoma/classificação , Glioblastoma/patologia , Glioblastoma/cirurgia , Glioma/classificação , Glioma/patologia , Glioma/cirurgia , Humanos , Imuno-Histoquímica , Isocitrato Desidrogenase/genética , Antígeno Ki-67 , Masculino , Pessoa de Meia-Idade , Oligodendroglioma/classificação , Oligodendroglioma/patologia , Oligodendroglioma/cirurgia , Prognóstico , Estudos Retrospectivos , Organização Mundial da SaúdeRESUMO
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.
Assuntos
Neoplasias Cerebelares , Meduloblastoma , Adolescente , Neoplasias Cerebelares/genética , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Meduloblastoma/diagnóstico por imagem , Prognóstico , Adulto JovemRESUMO
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.
Assuntos
Hidrocefalia/cirurgia , Cirurgia Assistida por Computador/métodos , Tomografia Computadorizada por Raios X/métodos , Derivação Ventriculoperitoneal/métodos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Falha de Equipamento , Feminino , Humanos , Lactente , Recém-Nascido , Período Intraoperatório , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
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.
Assuntos
Endoscopia/métodos , Vértebras Lombares/cirurgia , Procedimentos Ortopédicos/métodos , Feminino , Humanos , MasculinoRESUMO
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.
Assuntos
Fraturas por Osteoporose/complicações , Fraturas por Osteoporose/cirurgia , Sarcopenia/complicações , Fraturas da Coluna Vertebral/complicações , Fraturas da Coluna Vertebral/cirurgia , Idoso , Idoso de 80 Anos ou mais , Feminino , Fraturas por Compressão/complicações , Fraturas por Compressão/mortalidade , Fraturas por Compressão/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Fraturas por Osteoporose/mortalidade , Estudos Retrospectivos , Fatores de Risco , Fraturas da Coluna Vertebral/mortalidade , Resultado do Tratamento , Vertebroplastia/métodosRESUMO
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.
Assuntos
Cistos Coloides/cirurgia , Microcirurgia/efeitos adversos , Neuroendoscopia/efeitos adversos , Complicações Pós-Operatórias/epidemiologia , Adolescente , Adulto , Idoso , Hemorragia Cerebral/cirurgia , Feminino , Humanos , Imageamento Tridimensional , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Cirurgia Assistida por Computador , Turquia/epidemiologia , Adulto JovemRESUMO
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.
Assuntos
Adenosina Trifosfatases/genética , Encéfalo/anormalidades , Encéfalo/patologia , Microcefalia/genética , Células-Tronco Neurais/patologia , Neurogênese/genética , Lobo Óptico de Animais não Mamíferos/anormalidades , Animais , Encéfalo/crescimento & desenvolvimento , Contagem de Células , Divisão Celular/genética , Dendritos/genética , Drosophila , Proteínas de Drosophila/genética , Humanos , Katanina , Camundongos , Microcefalia/patologia , Proteínas Associadas aos Microtúbulos/genética , Mutação , Fuso Acromático/genética , Peixe-ZebraRESUMO
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.