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BACKGROUND: Ependymal cilia play a major role in the circulation of cerebrospinal fluid. Although isolation of cilia is an essential technique for investigating ciliary structure, to the best of our knowledge, no report on the isolation and structural analysis of ependymal cilia from mouse brain is available. NEW METHOD: We developed a novel method for isolating ependymal cilia from mouse brain ventricles. We isolated ependymal cilia by partially opening the lateral ventricles and gently applying shear stress, followed by pipetting and ultracentrifugation. RESULTS: Using this new method, we were able to observe cilia separately. The results demonstrated that our method successfully isolated intact ependymal cilia with preserved morphology and ultrastructure. In this procedure, the ventricular ependymal cell layer was partially detached. COMPARISON WITH EXISTING METHODS: Compared to existing methods for isolating cilia from other tissues, our method is meticulously tailored for extracting ependymal cilia from the mouse brain. Designed with a keen understanding of the fragility of the ventricular ependyma, our method prioritizes minimizing tissue damage during the isolation procedure. CONCLUSIONS: We isolated ependymal cilia from mouse brain by applying shear stress selectively to the ventricles. Our method can be used to conduct more detailed studies on the structure of ependymal cilia.
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Cilios , Epéndimo , Animales , Cilios/fisiología , Epéndimo/citología , Ratones , Ratones Endogámicos C57BL , Encéfalo/citología , Masculino , Ventrículos Cerebrales/citologíaRESUMEN
Background: Posterior clinoid process (PCP) meningioma is an exceedingly rare entity. It remains the most challenging skull base lesion for neurosurgeons due to its treacherous location that insinuates amongst critical neurovascular structures. This article will describe the technical notes using the endoscopic endonasal approach that provide the earliest devascularization and detachment of the tumor PCP meningioma. Methods: We are introducing the surgical implementation of an endoscopic endonasal approach to removing PCP meningioma. Furthermore, we perform a literature review of posterior clinoid process meningioma that undergoes surgical intervention, then summarize the benefits and limitations of each approach. Results: We present a case of right PCP meningioma that was removed using an endoscopic endonasal approach through the transposterior clinoid corridor in a 52-year-old-woman. We describe the technical notes in performing this approach to have the earliest devascularization and detachment of the tumor by performing posterior clinoidectomy. Safe tumor removal is performed with a wide and clear view of the surrounding neurovascular structure. Based on our database search, we found nine articles reported on the surgical management of PCP meningiomas, with a total number of 15 cases. All of the reported cases performed the tumor removal using the transcranial approach. Conclusion: The endoscopic endonasal transposterior clinoid approach circumvents all disadvantages faced by the traditional transcranial approach, providing the earliest approach to devascularized and detaching the tumor from its attachment at PCP. This approach demonstrates safety and efficacy, making it an acceptable alternative for PCP meningioma resections.
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Neurofibromatosis type 1 (NF1) is an autosomal dominant syndrome caused by germline alteration of the NF1gene. Among various NF1-related manifestations, obstructive hydrocephalus especially in adult NF1 cases is less frequently found. We report two adult NF1 cases exhibiting obstructive hydrocephalus due to an aggressive posterior fossa tumor exhibiting pathological characteristics of pilocytic astrocytoma as NF1-related manifestations. In these two cases, we performed endoscopic third ventriculostomy (ETV) and tumor biopsy as an initial treatment. The initial pathological diagnosis of the tumor is conventional pilocytic astrocytoma. After biopsy both cases revealed rapid tumor growth, therefore, we performed tumor removal, chemotherapy, and radiation therapy during an aggressive clinical course. However, both cases revealed dismal prognosis due to the progression of the tumor in spite of successful management of hydrocephalus by an initial ETV. DNA methylation analysis revealed that the tumor of one case matched high-grade astrocytoma with piloid features (HGAP). Most central nervous system tumors developed in NF1 are less aggressive such as pilocytic astrocytoma; however, recently a few studies revealed that HGAP, which has been a newly introduced malignant tumor in the World Health Organization Classification of Tumors of the Central Nervous System, 5th edition (WHO CNS 5), rarely develops in NF1 cases. These findings suggested that HGAP might be one of the important causes of obstructive hydrocephalus in adult NF1 cases.
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OBJECTIVE: Transient neurological deficits (TNDs) are known to develop after direct bypass for Moyamoya disease and may be risk factors for subsequent stroke. However, the factors involved in the development of TNDs and stroke after indirect revascularization alone, including their association with subsequent stroke, remain unclear. The purpose of this study was to investigate this issue. METHODS: The subjects of the study were 30 patients with Moyamoya disease who underwent a total of 40 indirect revascularization procedures at our institution. Clinical and radiological data were collected retrospectively. To examine factors associated with the development of postoperative TND/stroke/asymptomatic disease, the clinical characteristics of each group were statistically compared. RESULTS: The mean age at surgery was 7 years (range 1-63). TNDs developed after surgery in 9 out of 40 patients (22.5%). Stroke in the acute postoperative period occurred in 3 patients (7.5%), all of whom experienced cerebral infarctions. Demographic data and preoperative clinical information were not different between the groups. However, posterior cerebral artery involvement on preoperative imaging was significantly associated with the development of TNDs and stroke (P = 0.006). Furthermore, postoperative stroke was associated with unfavorable outcomes (P = 0.025). CONCLUSIONS: Posterior cerebral artery involvement is significantly associated with the occurrence of TNDs. In contrast, TNDs after indirect revascularization have little relationship with the subsequent development of stroke. TNDs usually resolve without new strokes, and a better understanding of this particular pathology could help establish an optimal treatment regimen.
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Revascularización Cerebral , Accidente Cerebrovascular Isquémico , Enfermedad de Moyamoya , Arteria Cerebral Posterior , Complicaciones Posoperatorias , Humanos , Enfermedad de Moyamoya/cirugía , Enfermedad de Moyamoya/diagnóstico por imagen , Enfermedad de Moyamoya/complicaciones , Femenino , Masculino , Revascularización Cerebral/efectos adversos , Revascularización Cerebral/métodos , Adulto , Persona de Mediana Edad , Complicaciones Posoperatorias/diagnóstico por imagen , Complicaciones Posoperatorias/etiología , Complicaciones Posoperatorias/epidemiología , Adolescente , Estudios Retrospectivos , Niño , Adulto Joven , Arteria Cerebral Posterior/diagnóstico por imagen , Arteria Cerebral Posterior/cirugía , Accidente Cerebrovascular Isquémico/diagnóstico por imagen , Accidente Cerebrovascular Isquémico/etiología , Accidente Cerebrovascular Isquémico/cirugía , Preescolar , Lactante , Enfermedades del Sistema Nervioso/etiología , Enfermedades del Sistema Nervioso/epidemiología , Enfermedades del Sistema Nervioso/diagnóstico por imagenRESUMEN
Li-Fraumeni syndrome (LFS) is an autosomal dominant tumor predisposition syndrome caused by heterozygous germline mutations or deletions in the TP53 tumor suppressor gene. Central nervous system tumors, such as choroid plexus tumors, medulloblastomas, and diffuse gliomas, are frequently found in patients with LFS. Although molecular profiles of diffuse gliomas that develop in pediatric patients with LFS have been elucidated, those in adults are limited. Recently, diffuse gliomas have been divided into pediatric- and adult-type gliomas, based on their distinct molecular profiles. In the present study, we investigated the molecular profiles of high-grade gliomas in three adults with LFS. These tumors revealed characteristic histopathological findings of high-grade glioma or glioblastoma and harbored wild-type IDH1/2 according to whole exome sequencing (WES). However, these tumors did not exhibit the key molecular alterations of glioblastoma, IDH-wildtype such as TERT promoter mutation, EGFR amplification, or chromosome 7 gain and 10 loss. Although WES revealed no other characteristic gene mutations or copy number alterations in high-grade gliomas, such as those in histone H3 genes, PDGFRA amplification was found in all three cases together with uniparental disomy of chromosome 17p, where the TP53 gene is located. DNA methylation analyses revealed that all tumors exhibited DNA methylation profiles similar to those of pediatric-type high-grade glioma H3-wildtype and IDH-wildtype (pHGG H3-/IDH-wt), RTK1 subtype. These data suggest that high-grade gliomas developed in adult patients with LFS may be involved in pHGG H3-/IDH-wt. PDGFRA and homozygous alterations in TP53 may play pivotal roles in the development of this type of glioma in adult patients with LFS.
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Neoplasias Encefálicas , Glioma , Síndrome de Li-Fraumeni , Adulto , Humanos , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patología , Genes p53 , Glioblastoma/genética , Glioblastoma/patología , Glioma/genética , Glioma/patología , Isocitrato Deshidrogenasa/genética , Síndrome de Li-Fraumeni/genética , Mutación/genéticaRESUMEN
The surgical treatment of retroinfundibular craniopharyngiomas is challenging due to their location and the surrounding neurovascular structures. In this report, the transdorsum sellar approach with posterior clinoidectomy, the efficacy of direct cyst puncture, and the suitability of a two-piece dural opening are presented. A 56-year-old male with visual and cognitive disturbances was referred to our hospital. Preoperative CT and MRI demonstrated a mostly cystic lesion with calcifications in the suprasellar and retroinfundibular areas. The imaging findings were suspected craniopharyngioma, and an extended endoscopic endonasal transdorsum sellar approach with posterior clinoidectomy was performed for direct access to the lesion. Two pieces of the dura were opened to prevent postoperative CSF leakage. The patient's postoperative course was uneventful. The endoscopic transdorsum sellar approach gives direct access to the posterior cranial fossa. A direct puncture of the cyst without CSF drainage is helpful for large cystic lesions. A two-piece dural opening is easy to suture and can reduce the chance of postoperative CSF leakage.
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Extrapleural air is a rare condition that may concurrently develop with pneumomediastinum and pneumothorax, especially in older patients with fragile connective tissues. Physicians should consider extrapleural air to prevent inadvertent harm. Coronal reconstruction computed tomography images help appreciate extrapleural air and recognize the track of extrapulmonary air.
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OBJECTIVE: Surgical treatment of brainstem cavernous malformations (CMs) is challenging. Surgery using the endoscopic transsphenoidal transclival approach (eTSTCA) is reported as a useful alternative for ventral brainstem CMs. However, CMs located in the ventral midline of the brainstem are rare, and only a small number of case reports on these CMs treated with the eTSTCA exist. The efficacy and safety of the eTSTCA have not yet been fully examined. METHODS: A retrospective analysis was performed for 5 consecutive patients who underwent surgery via the eTSTCA for treating ventral pontine CMs. RESULTS: The average maximum CM diameter was 26.0 mm (18-38 mm). All patients underwent MR-diffusion tensor imaging, which confirmed that the corticospinal tract (CST) deviated posteriorly or laterally to the CM. Direct brainstem cortical stimulation was performed to localize the CST before making the cortical incision. After the excision of the CM, the cavity was filled with artificial CSF to make an aqueous surgical field (wet-field technique) for observing the tumor cavity and confirming complete hemostasis and resection. Total removal was achieved in all patients. The preoperative modified Rankin Scale score was 3 in 3 patients and 4 in 2 patients, whereas it was 1 in 2 patients and 0 in 3 patients 3 months after surgery. Postoperative CSF leakage was observed in 1 patient, and transient abducens nerve palsy was observed in 1 patient. No other intra- or postoperative complications were observed. CONCLUSIONS: MR-diffusion tensor imaging and direct brainstem cortical stimulation were useful to ascertain the proximity of the CST to the CM. The endoscope provides a clear view even underwater, and it was safe and effective to observe the entire CM cavity and confirm complete hemostasis without additional retraction of the brainstem parenchyma, including the CST. The eTSTCA provides a direct access point to the lesion and may be a safer alternative treatment for patients whose CST deviates laterally or posteriorly to the CM.
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Imagen de Difusión Tensora , Puente , Humanos , Imagen de Difusión Tensora/métodos , Estudios Retrospectivos , Puente/cirugía , Endoscopía , Tronco Encefálico/diagnóstico por imagen , Tronco Encefálico/cirugía , Tronco Encefálico/patología , Complicaciones Posoperatorias/patologíaRESUMEN
BACKGROUND: The prognosis of pulmonary hypertension (PH) associated with connective tissue diseases related to interstitial pneumonia (CTD-IP PH) is relatively good among patients with PH and lung disease. However, the impact of pulmonary vasodilator treatment on the prognosis of CTD-IP PH compared with that of PH-induced chronic lung disease (group-3 PH) remains unclear. METHODS: From 2012 to 2022, 50 patients with lung parenchymal lesions diagnosed with PH (mean pulmonary arterial pressure >20 mmHg) at Juntendo University Hospital were divided into two groups: CTD-IP PH (30 patients) and group 3-PH (20 patients). The impact of pulmonary vasodilator treatment and the use of long-term oxygen therapy (LTOT) on the prognosis of each group was examined retrospectively. RESULTS: The prognosis of CTD-IP PH was significantly better compared to group-3 PH. While the treatment with pulmonary vasodilators did not affect the prognosis in group 3-PH, the prognosis of the patients treated with vasodilators in the CTD-IP PH group was significantly better than that of the non-treated patients. Treatment with multi-pulmonary vasodilators did not affect the prognosis in CTD-IP PH. Although the prognosis for the patients with LTOT was poor in all registered patients in the present study, treatment with pulmonary vasodilators improved the prognosis even under the use of LTOT in CTD-IP PH (P = 0.002). In a multivariate analysis of the CTD-IP PH group, pulmonary vasodilator treatment was an independent factor for better prognosis. CONCLUSION: Treatment with a pulmonary vasodilator for CTD-IP PH may improve the prognosis, even in patients requiring LTOT.
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Enfermedades del Tejido Conjuntivo , Hipertensión Pulmonar , Humanos , Pronóstico , Hipertensión Pulmonar/tratamiento farmacológico , Hipertensión Pulmonar/etiología , Estudios Retrospectivos , Pulmón , Enfermedades del Tejido Conjuntivo/complicaciones , Enfermedades del Tejido Conjuntivo/diagnóstico , Vasodilatadores/uso terapéuticoRESUMEN
Accurate tumor identification during surgical excision is necessary for neurosurgeons to determine the extent of resection without damaging the surrounding tissues. No conventional technologies have achieved reliable performance for pituitary adenomas. This study proposes a deep learning approach using intraoperative endoscopic images to discriminate pituitary adenomas from non-tumorous tissue inside the sella turcica. Static images were extracted from 50 intraoperative videos of patients with pituitary adenomas. All patients underwent endoscopic transsphenoidal surgery with a 4 K ultrahigh-definition endoscope. The tumor and non-tumorous tissue within the sella turcica were delineated on static images. Using intraoperative images, we developed and validated deep learning models to identify tumorous tissue. Model performance was evaluated using a fivefold per-patient methodology. As a proof-of-concept, the model's predictions were pathologically cross-referenced with a medical professional's diagnosis using the intraoperative images of a prospectively enrolled patient. In total, 605 static images were obtained. Among the cropped 117,223 patches, 58,088 were labeled as tumors, while the remaining 59,135 were labeled as non-tumorous tissues. The evaluation of the image dataset revealed that the wide-ResNet model had the highest accuracy of 0.768, with an F1 score of 0.766. A preliminary evaluation on one patient indicated alignment between the ground truth set by neurosurgeons, the model's predictions, and histopathological findings. Our deep learning algorithm has a positive tumor discrimination performance in intraoperative 4-K endoscopic images in patients with pituitary adenomas.
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Adenoma , Aprendizaje Profundo , Neoplasias Hipofisarias , Humanos , Neoplasias Hipofisarias/diagnóstico por imagen , Neoplasias Hipofisarias/cirugía , Proyectos Piloto , Adenoma/diagnóstico por imagen , Adenoma/cirugía , Adenoma/patología , Endoscopía/métodos , Resultado del Tratamiento , Estudios RetrospectivosRESUMEN
Genetic factors alone cannot explain the pathophysiology of moyamoya disease (MMD), and environmental factors such as an immune response are thought to be involved. Oral and gut microbiomes have attracted attention as environmental factors in the pathophysiology of some vascular and autoimmune diseases. However, the relationship between MMD and these microbiomes is yet to be thoroughly investigated. This prospective case-control study aimed to compare the microbiomes of Japanese patients with MMD with those of healthy individuals to identify the specific bacteria involved in MMD. Saliva and fecal samples were collected from 16 patients with MMD who had not undergone revascularization surgery. Fifteen healthy individuals were matched for age, sex, and body mass index. The microbiomes were determined using 16S rRNA sequencing and analyzed using QIIME2. Differentially abundant microbes were identified using LEfSE and ANCOM-BC. In the oral microbiome, the two analytical methods showed that Campylobacter was more abundant in patients with MMD than in healthy individuals. Differences in the gut microbiome were smaller than those in the oral microbiome. In conclusion, the oral microbiome profiles of patients with MMD significantly differ from those of healthy individuals. Campylobacter spp. could be a substantial environmental factor in the pathophysiology of MMD.
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Campylobacter , Microbiota , Enfermedad de Moyamoya , Saliva , Humanos , Campylobacter/genética , Campylobacter/aislamiento & purificación , Estudios de Casos y Controles , Pueblos del Este de Asia , Enfermedad de Moyamoya/genética , Enfermedad de Moyamoya/microbiología , ARN Ribosómico 16S/genética , Saliva/microbiología , Heces/microbiologíaRESUMEN
Optic pathway gliomas (OPGs) are benign tumors that can stop growing or even shrink. In recent years, surgical resection has not been considered the first-line treatment because of its high risk of complications. Chemotherapy is the mainstay of treatment for growing OPGs. Surgical treatment for OPGs with obstructive hydrocephalus is required. Ventriculoperitoneal shunting is effective for all types of hydrocephalus. However, long-term management is required, especially in pediatric cases, and there is a risk of shunt-related complications over a long lifespan. Debulking surgery for OPGs allows us to avoid shunt placement by creating a waterway and releasing the hydrocephalus. To reduce the surgical risk and invasiveness, we used an endoscopic canalization technique with a small-diameter cylinder. In this article, we present a case of endoscopic canalization of an obstructive hydrocephalus caused by OPGs in a 14-year-old female to illustrate our surgical technique.(Trial registration Registry name and number: Efficacy and safety of the neuro-endoscopic treatment for brain tumors (2019-0254)).
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Neoplasias Encefálicas , Hidrocefalia , Glioma del Nervio Óptico , Adolescente , Femenino , Humanos , Neoplasias Encefálicas/cirugía , Procedimientos Quirúrgicos de Citorreducción/efectos adversos , Hidrocefalia/diagnóstico por imagen , Hidrocefalia/etiología , Hidrocefalia/cirugía , Glioma del Nervio Óptico/complicaciones , Estudios Retrospectivos , Resultado del Tratamiento , Derivación Ventriculoperitoneal/efectos adversosRESUMEN
Introduction: The pituitary gland, regulating various hormones, is central in the endocrine system. As spontaneous recovery from hypopituitarism is rare, and exogenous-hormone substitution is clumsy, pituitary replacement via regenerative medicine, using pluripotent stem cells, is desirable. We have developed a differentiation method that in mice yields pituitary organoids (POs) derived from human embryonic stem cells (hESC). Efficacy of these POs, transplanted subcutaneously into hypopituitary mice, in reversing hypopituitarism was studied. Methods: hESC-derived POs were transplanted into inguinal subcutaneous white adipose tissue (ISWAT) and beneath dorsal skin, a relatively avascular region (AR), of hypophysectomized severe combined immunodeficient (SCID) mice. Pituitary function was evaluated thereafter for ¾ 6mo, assaying basal plasma ACTH and ACTH response to corticotropin-releasing hormone (CRH) stimulation. Histopathologic examination of organoids 150d after transplantation assessed engraftment. Some mice received an inhibitor of vascular endothelial growth factor (VEGF) to permit assessment of how angiogenesis contributed to subcutaneous engraftment. Results: During follow-up, both basal and CRH-stimulated plasma ACTH levels were significantly higher in the ISWAT group (p < 0.001 - 0.05 and 0.001 - 0.005, respectively) than in a sham-operated group. ACTH secretion also was higher in the ISWAT group than in the AR group. Histopathologic study found ACTH-producing human pituitary-cell clusters in both groups of allografts, which had acquired a microvasculature. POs qPCR showed expression of angiogenetic factors. Plasma ACTH levels decreased with VEGF-inhibitor administration. Conclusions: Subcutaneous transplantation of hESC-derived POs into hypopituitary SCID mice efficaciously renders recipients ACTH-sufficient.
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Células Madre Embrionarias Humanas , Hipopituitarismo , Enfermedades de la Hipófisis , Humanos , Ratones , Animales , Células Madre Embrionarias Humanas/metabolismo , Factor A de Crecimiento Endotelial Vascular/metabolismo , Hormona Adrenocorticotrópica/metabolismo , Hormona Liberadora de Corticotropina/metabolismo , Ratones SCID , Hipófisis/metabolismo , Enfermedades de la Hipófisis/metabolismo , Hipopituitarismo/metabolismoRESUMEN
BACKGROUND: Although lung ultrasound has been reported to be a portable, cost-effective, and accurate method to detect pneumonia, it has not been widely used because of the difficulty in its interpretation. Here, we aimed to investigate the effectiveness of a novel artificial intelligence-based automated pneumonia detection method using point-of-care lung ultrasound (AI-POCUS) for the coronavirus disease 2019 (COVID-19). METHODS: We enrolled consecutive patients admitted with COVID-19 who underwent computed tomography (CT) in August and September 2021. A 12-zone AI-POCUS was performed by a novice observer using a pocket-size device within 24 h of the CT scan. Fifteen control subjects were also scanned. Additionally, the accuracy of the simplified 8-zone scan excluding the dorsal chest, was assessed. More than three B-lines detected in one lung zone were considered zone-level positive, and the presence of positive AI-POCUS in any lung zone was considered patient-level positive. The sample size calculation was not performed given the retrospective all-comer nature of the study. RESULTS: A total of 577 lung zones from 56 subjects (59.4 ± 14.8 years, 23% female) were evaluated using AI-POCUS. The mean number of days from disease onset was 9, and 14% of patients were under mechanical ventilation. The CT-validated pneumonia was seen in 71.4% of patients at total 577 lung zones (53.3%). The 12-zone AI-POCUS for detecting CT-validated pneumonia in the patient-level showed the accuracy of 94.5% (85.1%- 98.1%), sensitivity of 92.3% (79.7%- 97.3%), specificity of 100% (80.6%- 100%), positive predictive value of 95.0% (89.6% - 97.7%), and Kappa of 0.33 (0.27-0.40). When simplified with 8-zone scan, the accuracy, sensitivity, and sensitivity were 83.9% (72.2%- 91.3%), 77.5% (62.5%- 87.7%), and 100% (80.6%- 100%), respectively. The zone-level accuracy, sensitivity, and specificity of AI-POCUS were 65.3% (61.4%- 69.1%), 37.2% (32.0%- 42.7%), and 97.8% (95.2%- 99.0%), respectively. INTERPRETATION: AI-POCUS using the novel pocket-size ultrasound system showed excellent agreement with CT-validated COVID-19 pneumonia, even when used by a novice observer.
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COVID-19 , Neumonía , Humanos , Femenino , Masculino , COVID-19/diagnóstico por imagen , Inteligencia Artificial , Sistemas de Atención de Punto , Estudios Retrospectivos , Pulmón/diagnóstico por imagen , Tomografía Computarizada por Rayos X/métodosRESUMEN
The myeloid differentiation primary response gene 88 (MYD88) L265P mutation is a disease-specific mutation of primary central nervous system lymphoma (PCNSL) among the central nervous system tumors. Accordingly, this mutation is considered a reliable diagnostic molecular marker of PCNSL. As the intra-operative diagnosis of PCNSL is sometimes difficult to achieve using histological examinations alone, intra-operative detection of the MYD88 L265P mutation could be effective for the accurate diagnosis of PCNSL. Herein, we aimed to develop a novel rapid genotyping system (GeneSoC) using real-time polymerase chain reaction (PCR) based on microfluidic thermal cycling technology. This real-time PCR system shortened the analysis time, which enabled the detection of the MYD88 L265P mutation within 15 min. Rapid detection of the MYD88 L265P mutation was performed intra-operatively using GeneSoC in 24 consecutive cases with suspected malignant brain tumors, including 10 cases with suspected PCNSL before surgery. The MYD88 L265P mutation was detected in eight cases in which tumors were pathologically diagnosed as PCNSL after the operation, while wild-type MYD88 was detected in 16 cases. Although two of the 16 cases with wild-type MYD88 were pathologically diagnosed as PCNSL after the operation, MYD88 L265P could be detected in all eight PCNSL cases harboring MYD88 L265P. The MYD88 L265P mutation could also be detected using cell-free DNA derived from the cerebrospinal fluid of two PCNSL cases. Detection of the MYD88 L265P mutation using GeneSoC might not only improve the accuracy of intra-operative diagnosis of PCNSL but also help the future pre-operative diagnosis through liquid biopsy of cerebrospinal fluid.
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Neoplasias del Sistema Nervioso Central , Linfoma , Humanos , Factor 88 de Diferenciación Mieloide/genética , Factor 88 de Diferenciación Mieloide/metabolismo , Mutación , Neoplasias del Sistema Nervioso Central/diagnóstico , Neoplasias del Sistema Nervioso Central/genética , Sistema Nervioso Central , Linfoma/diagnóstico , Linfoma/genéticaRESUMEN
PURPOSE: Delayed hyponatremia (DHN), a unique complication, is the leading cause of unexpected readmission after pituitary surgery. Therefore, this study aimed to develop tools for predicting postoperative DHN in patients undergoing endoscopic transsphenoidal surgery (eTSS) for pituitary neuroendocrine tumors (PitNETs). METHODS: This was a single-center, retrospective study involving 193 patients with PitNETs who underwent eTSS. The objective variable was DHN, defined as serum sodium levels < 135 mmol/L at ≥ 1 time between post operative days 3 and 9. We trained four machine learning models to predict this objective variable using the clinical variables available preoperatively and on the first postoperative day. The clinical variables included patient characteristics, pituitary-related hormone levels, blood test results, radiological findings, and postoperative complications. RESULTS: The random forest (RF) model demonstrated the highest (0.759 ± 0.039) area under the curve of the receiver operating characteristic curve (ROC-AUC), followed by the support vector machine (0.747 ± 0.034), the light gradient boosting machine (LGBM: 0.738 ± 0.026), and the logistic regression (0.710 ± 0.028). The highest accuracy (0.746 ± 0.029) was observed in the LGBM model. The best-performing RF model was based on 24 features, nine of which were clinically available preoperatively. CONCLUSIONS: The proposed machine learning models with pre- and post-resection features predicted DHN after the resection of PitNETs.
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Adenoma , Hiponatremia , Neoplasias Hipofisarias , Humanos , Hiponatremia/etiología , Estudios Retrospectivos , Adenoma/cirugía , Neoplasias Hipofisarias/cirugía , Neoplasias Hipofisarias/complicaciones , Aprendizaje AutomáticoRESUMEN
BACKGROUND: Rituximab, high-dose methotrexate (HD-MTX), procarbazine and vincristine (R-MPV), has significantly prolonged the survival of patients with primary central nervous system lymphoma (PCNSL), but predictive factors for response to R-MPV have not yet been investigated. Herein, we investigated the correlation of MYD88 L265P and CD79B Y196 mutations, which are the most frequently found molecular alterations in PCNSL, with prognosis of patients with PCNSL treated with R-MPV. METHODS: We investigated the long-term clinical course and status of MYD88 and CD79B genes in 85 patients with PCNSL treated with R-MPV or HD-MTX treatment, and the correlation of these genetic mutations with prognosis. RESULTS: R-MPV achieved an excellent tumor control rate (61.6% and 69.9% of 5-year progression-free and overall survival rates, respectively). While MYD88 L265P mutation had no significant effect on survival, patients with CD79B Y196 mutations exhibited prolonged survival (p < 0.05). However, the association of CD79B Y196 mutation with a better prognosis was not observed in the HD-MTX cohort, which indicated that CD79B Y196 mutation was a predictive marker for a favorable response to R-MPV. Furthermore, we established an all-in-one rapid genotyping system for these genetic mutations. CONCLUSIONS: In conclusion, CD79B Y196 mutation is a potent predictive marker for favorable response to R-MPV in PCNSL. The rapid identification of MYD88 L265P and CD79B Y196 mutations can be helpful not only for the accurate molecular diagnosis of PCNSL but also for the prediction of response to R-MPV.
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Neoplasias del Sistema Nervioso Central , Linfoma de Células B Grandes Difuso , Humanos , Linfoma de Células B Grandes Difuso/tratamiento farmacológico , Factor 88 de Diferenciación Mieloide/genética , Factor 88 de Diferenciación Mieloide/metabolismo , Mutación , Rituximab/uso terapéutico , Sistema Nervioso Central/metabolismo , Sistema Nervioso Central/patología , Neoplasias del Sistema Nervioso Central/tratamiento farmacológico , Neoplasias del Sistema Nervioso Central/genética , Metotrexato/uso terapéutico , Antígenos CD79/genéticaRESUMEN
PURPOSE: Postoperative pituitary dysfunction, a critical problem in the treatment of craniopharyngiomas, can occur even when the pituitary stalk is preserved. We hypothesized that compromise of the primary superior hypophyseal artery (pSHA) might be related to this occurrence. METHODS: We performed a retrospective review of 131 patients with craniopharyngioma who underwent surgery from April 2009 to September 2021. The inclusion criteria were initial surgery, endoscopic transsphenoidal surgery, preoperative normal pituitary function or pituitary dysfunction in one axis, and morphological preservation of the pituitary stalk. The branches of the pSHA consist mainly of the chiasmatic branches (Cb), infundibular branches (Ib), and descending branches (Db). We analyzed the association between postoperative pituitary function and preservation of these branches. RESULTS: Twenty patients met the criteria. Preoperative anterior pituitary function was normal in 18 patients, and there was isolated growth hormone deficiency in two patients. No patient had preoperative diabetes insipidus (DI). Anterior pituitary function was unchanged postoperatively in eight patients. Of these eight patients, bilateral preservation of pSHA Ib was confirmed in seven patients. Bilateral preservation of pSHA Ib was the only factor associated with preserved anterior pituitary function (p < 0.01). Fifteen patients were free of permanent DI, and the preservation of any given pSHA branch produced no significant difference in the postoperative occurrence of permanent DI. CONCLUSIONS: Our study shows that bilateral preservation of pSHA Ib provides favorable postoperative anterior pituitary function in craniopharyngioma surgery; however, such preservation may have little effect on the postoperative occurrence of DI.
Asunto(s)
Craneofaringioma , Diabetes Insípida , Neoplasias Hipofisarias , Humanos , Craneofaringioma/cirugía , Neoplasias Hipofisarias/cirugía , Hipófisis/cirugía , Diabetes Insípida/complicaciones , Complicaciones Posoperatorias , Arterias , Estudios RetrospectivosRESUMEN
Background: The aim of this study was to investigate the association between early postoperative slow flow in bypass grafts and preoperative focal cerebral blood flow (CBF) in patients who underwent combined surgery for moyamoya disease (MMD). Methods: The subjects were 18 patients (22 surgeries) who underwent single photon emission computed tomography (SPECT) before surgery. The CBF value of the middle cerebral artery territory was extracted from the SPECT data, and the value relative to the ipsilateral cerebellar CBF (relative CBF, or RCBF) was calculated. The association between RCBF and early postoperative slow flow in the bypass graft was investigated. In addition, the correlation between the revascularization effect and preoperative RCBF was analyzed. Results: In four of 22 surgeries (18.2%), slow flow in the bypass graft was identified in the early postoperative period. Preoperative RCBF in the slow flow and patent groups was 0.86 ± 0.15 and 0.87 ± 0.15, respectively, with no significant difference (P = 0.72). The signal intensity of four slow-flowed bypasses was improved in all cases on magnetic resonance angiography images captured during the chronic phase (mean of 3.3 months postoperatively). The revascularization scores were 2 ± 0.82 and 2.1 ± 0.68 in the slow flow and patent groups, respectively, and did not differ significantly (P = 0.78). A significant correlation was not observed between preoperative RCBF and the revascularization effect. Conclusion: No significant association was observed between preoperative RCBF and early postoperative slow flow in bypass grafts in patients with MMD undergoing combined surgery. Given the high rate of improved depiction of slow-flowed bypass in the chronic postoperative phase, the conceptual significance of an opportune surgical intervention is to maintain CBF by supporting the patient's own intracranial-extracranial conversion function.
RESUMEN
BACKGROUND: Remote cerebral infarction after combined revascularization of the middle cerebral artery (MCA) territory is rare in patients with moyamoya disease (MMD) with a fetal-type posterior communicating artery (PCoA). OBSERVATIONS: A 57-year-old woman developed numbness in her right upper limb and transient motor weakness and was diagnosed with MMD. She also had a headache attack and a scintillating scotoma in the right visual field. Preoperative magnetic resonance angiography (MRA) showed stenosis of the left posterior cerebral artery (PCA). Combined revascularization was performed for the left MCA territory. No new neurological deficits were observed for 2 days after the operation, but right hemianopia, alexia, and agraphia appeared on postoperative day (POD) 4. Magnetic resonance imaging showed a new left occipitoparietal lobe infarction, and MRA showed occlusion of the distal left PCA. After that point, the alexia and agraphia gradually improved, but right hemianopia remained at the time of discharge on POD 18. LESSONS: Cerebral ischemia in the PCA territory may occur after combined revascularization of the MCA territory in patients with fetal-type PCoA. For these cases, a double-barrel bypass or indirect revascularization to induce a slow conversion could be considered on its own as a treatment option.