A clinical study of 31 individuals with midline facial defects with hypertelorism and a guideline for follow-up

In order to contribute to clinical delineation of midline facial defects with hypertelorism (MFDH) and to etiologic diagnosis of the isolated form, 31 patients with MFDH unaffected by known syndromic associations were evaluated. Group A included patients personally examined by the authors, while Group B included those previously evaluated by other geneticists. Among the 14 patients from Group A, there were 7 with distinct pictures of multiple congenital anomalies. In Group B, 5 of the 17 patients also exhibited a distinct pattern of defects. Among isolated MFDH, there was association with anomalies of the skull and facial bones (13/14), otorhinologic (11/16), central nervous system (9/16), and ocular (6/7), and audiologic (3/16); 1/3 of the cases had a relevant gestational intercurrences. Isolated FNM may have involvement of environmental components in some cases; the possibility of a syndromic picture should be extensive investigated. Follow-up of such patients must include the examinations herein performed.

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Cocktail Therapy Increased the Survival Rate of APL.

Blood ◽

10.1182/blood.v106.11.899.899 ◽

2005 ◽

Vol 106 (11) ◽

pp. 899-899

Author(s):

Jin Zhou ◽

Ran Meng ◽

Limin Li ◽

Jie Yu ◽

Baofeng Yang

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Survival Rate ◽

Arsenic Trioxide ◽

Trans Retinoic Acid ◽

All Trans Retinoic Acid ◽

Group A ◽

The Central Nervous System ◽

Group B ◽

Central Nervous System Infiltration

Abstract Background Arsenic trioxide provides significant benefits in newly diagnosed and relapsed acute promyelocytic leukemia (APL) respectively. However, the high relapsed rate is still threatened the life of APL patients. Which regimen should be used to overcome or reduce the relapse in consolidated treatment is a key problem at present. We performed a pilot study about that. Objective To Compare the effectiveness and security of cocktail therapy with single arsenic trioxide therapy in APL consolidated treatment. Methods Sixty-Five APL patients, who once received arsenic trioxide treatment and obtained complete remission, were enrolled in this study. Patients were divided into two groups according to the different consolidated regimens. After reinforced treated with DA (daunomycin and cytarabine) or HOAP (harringtonine, vincristin, cytarabine and prednisone) for two course, Group A involved twenty cases received single arsenic trioxide consolidated, Group B included forty-five cases treated with the cocktail therapy, alternatively treated with arsenic trioxide, all trans-retinoic acid and chemotherapy (DA or HOAP). The relapse rates, the survival rates and the central nervous system infiltration rates in 3 years followed up were compared. Results The relapsed rate of Group A was 55%, which was higher than that of Group B(17.8%). The re-remission rate after the first relapse in Group A was 22%, which was lower than that of Group B(42.8%). The central nervous system infiltration rate of Group A was 28%, which was higher than that of Group B(6%). The average survival time of Group A was 10.5±4.2months, which was shorter than that of Group B (22.5±5.5 months). The three-year survival rate of Group A was 15%, which was less than that of Group B (65.8%). Conclusions Cocktail therapy —alternatively treated with arsenic trioxide, all trans-retinoic acid and chemotherapy will be the reasonable regimen for APL consolidated treatment. Which provided benefited on inhibiting relapse and central nervous system infiltration of APL.

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The effect of nivolumab treatment for central nervous system metastases in non-small cell lung cancer.

Journal of Clinical Oncology ◽

10.1200/jco.2017.35.15_suppl.e20601 ◽

2017 ◽

Vol 35 (15_suppl) ◽

pp. e20601-e20601 ◽

Cited By ~ 7

Author(s):

Hiromi Watanabe ◽

Toshio Kubo ◽

Takashi Ninomiya ◽

Kadoaki Ohashi ◽

Eiki Ichihara ◽

...

Keyword(s):

Lung Cancer ◽

Central Nervous System ◽

Nervous System ◽

Small Cell Lung Cancer ◽

Small Cell ◽

Small Cell Lung ◽

Group A ◽

Group B ◽

Nsclc Patients ◽

Cns Lesions

e20601 Background: Central nervous system (CNS) metastases (mets) occur in 30% of patients with advanced non-small cell lung cancer (NSCLC) and are associated with poor overall survival (OS). Although nivolumab, a programmed death-1 immune checkpoint inhibitor antibody, has demonstrated a longer survival benefit compared with docetaxel in previously treated NSCLC patients (CheckMate 017 and 057; N Engl J Med, 2015), patients with symptomatic or untreated CNS mets were excluded in these trials. In CheckMate 012 Arm M, 2 of 12 patients (16.7%) with untreated CNS mets showed intracranial responses, but the effect of nivolumab treatment for CNS mets was not fully investigated. Methods: To investigate the effect and safety of nivolumab for CNS mets in NSCLC patients, we retrospectively analyzed 48 patients with NSCLC who were treated with nivolumab from February 2016 to December 2016 at Okayama University Hospital. Results: Twenty-nine patients (60%) had no CNS lesions (group A) and 19 patients (40%) had brain mets (BM) (group B). In group B, 15 patients (79%) received radiotherapy (RT) for BM, including 5 patients who received RT just before nivolumab treatment. The responses of extra-CNS lesions to nivolumab are shown in the table. The PFS was longer in group A than in group B (p=0.14). In group B, the PFS of patients who received prior RT tended to be longer than in those without RT (p=0.42); OS was not reached in either group. In group B, the effects of nivolumab treatment for CNS mets were evaluated in 12 patients: SD occurred in 3 patients (25%), PD in 4 patients (33%), and NE in 5 patients (42%). All 4 patients with PD in the CNS lesion also showed PD in the extra-CNS lesion. In group A, no patients showed progression only in the CNS lesion. Conclusions: In this retrospective study, there were no patients treated only with nivolumab who showed a response to CNS mets. RT prior to nivolumab might be more effective, so future investigations should involve additional cases and prospective studies. [Table: see text]

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Midline Facial Defects with Hypertelorism and Low-Grade Astrocytoma: A Previously Undescribed Association

The Cleft Palate-Craniofacial Journal ◽

10.1597/05-099 ◽

2006 ◽

Vol 43 (6) ◽

pp. 748-751 ◽

Cited By ~ 3

Author(s):

Silvyo David Araújo Giffoni ◽

Fernando Cendes ◽

Marcelo Valente ◽

Vera Lucia Gil-da-Silva-Lopes

Keyword(s):

Magnetic Resonance Imaging ◽

Central Nervous System ◽

Nervous System ◽

Magnetic Resonance ◽

Cleft Lip ◽

Low Grade ◽

Resonance Imaging ◽

Facial Defects ◽

Median Cleft

We report on a child with midline facial defects with hypertelorism (MFDH), median cleft lip, sphenoidal ventriculocele, partial agenesis of the corpus callosum, and low-grade astrocytoma in the cervicomedullary junction. This combination of findings has not been reported previously. Although this association might be casual, it demonstrates a relationship between disorders of frontonasal process and posterior fossae. It also suggests that individuals with MFDH might require a prospective follow-up with central nervous system magnetic resonance imaging.

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ML-01 Pathological characteristics of primary central nervous system lymphoma with atypical radiological finding

Neuro-Oncology Advances ◽

10.1093/noajnl/vdaa143.065 ◽

2020 ◽

Vol 2 (Supplement_3) ◽

pp. ii15-ii15

Author(s):

Madoka Inukai ◽

Ichiyo Shibahara ◽

Hajime Handa ◽

Wakiko Saruta ◽

Sumito Sato ◽

...

Keyword(s):

Central Nervous System ◽

Blood Flow ◽

Nervous System ◽

Blood Vessels ◽

Central Nervous System Lymphoma ◽

Radiological Findings ◽

Adc Value ◽

Significant Difference ◽

Group A ◽

Group B

Abstract Background: If the brain tumor is suspected to be a primary central nervous system lymphoma (PCNSL) on radiological findings, it is general to perform biopsy to obtain the pathological diagnosis. Glioblastomas (GBs) must be distinguished from PCNSLs. In addition to commonly used contrast-enhanced T1-weighted imaging, diffusion-weighted image (DWI), and apparent diffusion coefficient (ADC) value, the following characteristics of PCNSLs were reported to be essential for this purpose: 1) no increase in blood flow on perfusion images obtained by the arterial spin labeling (ASL) method; 2) less microbleeding on T2*-weighted images (T2*). However, we experienced some exceptional cases. Purpose: To clarify the histopathological features of PCNSLs those had atypical radiological findings. Method: 62 consecutive PCNSL cases (40 males, 22 females, mean age 65.4 years, range 35–84) treated in our department from April 2013 to March 2020 were retrospectively analyzed. We compared the following features between 47 biopsy cases showing typical image findings as PCNSLs (Group A) and 15 surgically resected cases with atypical findings (Group B), 1) number of blood vessels per hyper 10 fields, 2) occupying area of blood vessels per unit area, 3) immunoreactivity of vascular endothelial growth factor (VEGF), and 4) germinal center B-cell (GCB) subtype. Results: In Group A, the number of blood vessels in the tumor was 39.3 on average, and the area occupied by blood vessels was 3.8%. In Group B, the former was 133.2, and the latter was 9.9%. There was no significant difference in VEGF expression and GCB subtype. Conclusion: In PCNSLs showing with high blood flow and microbleeds, the blood vessels were rich and partial bleeding was confirmed histologically. We should analyze much more cases to set the threshold both of the ADC value and the absolute value of blood flow calculated by the ASL method to distinguish between PCNSLs and GBs.

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ML-07 R-MPV-A THERAPY FOR PRIMARY CENTRAL NERVOUS SYSTEM LYMPHOMA IN THE ELDERLY: OUTCOME AND PROBLEM

Neuro-Oncology Advances ◽

10.1093/noajnl/vdz039.149 ◽

2019 ◽

Vol 1 (Supplement_2) ◽

pp. ii33-ii33

Author(s):

Hirotaka Fudaba ◽

Yasutomo Momii ◽

Kouhei Onishi ◽

Daigo Asou ◽

Minoru Fujiki

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Partial Response ◽

Central Nervous System Lymphoma ◽

Whole Brain Radiotherapy ◽

Complete Response ◽

The Other ◽

Brain Radiotherapy ◽

Group A ◽

Group B

Abstract PURPOSE R-MPV-A therapy has recently been reported to improve the outcomes of primary central nervous system lymphoma (PCNSL). Our patients have received R-MPV-A therapy since 2017 and elderly patients have only been treated with whole brain radiotherapy when they do not show a complete response after induction chemotherapy. We report the therapeutic outcomes and problems of elderly PCNSL patients treated with R-PMV-A. MATERIALS & METHODS Eight newly diagnosed PCNSL patients received R-MPV therapy from September 2017 to June 2019. We retrospectively reviewed the cycles of R-MPV therapy, radiotherapy, consolidation high-dose Ara-C (HD-Ara-C) therapy, and the G8 score (a geriatric assessment). RESULTS Patients were divided into three groups: Group A (71–75 years; n=2), Group B (76–80 years; n=4), and Group C (>81 years; n=2). All Group A patients finished 5 cycles of R-MPV therapy, showed a complete response, and underwent consolidation HD-Ara-C therapy. Two Group B patients showed a complete response on R-MPV therapy. One of the other patients showed a partial response after 3 cycles of R-MPV therapy, and a >3 kg reduction in body weight. The patient’s G8 score was 12 points. Whole brain radiotherapy (23.4 Gy) was administered followed by local radiotherapy (21.6 Gy). One patient showed a partial response after 7 cycles of R-MPV therapy and started radiotherapy. One Group C patient received radiotherapy after 3 cycles of R-MPV because of a new lesion. The other Group C patient showed acute renal damage after 3 cycles of R-MPV. CONCLUSION R-MPV-A therapy was relatively safe for our elderly PCNSL patients. Notably, patients >76 years of age sometimes had severe adverse effect with increased R-MPV cycles. A promising therapeutic strategy based on age and geriatric assessment is needed.

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Chemotherapy with cisplatin for AFP-secreting germ-cell tumors of the central nervous system

Journal of Neurosurgery ◽

10.3171/jns.1986.65.4.0470 ◽

1986 ◽

Vol 65 (4) ◽

pp. 470-475 ◽

Cited By ~ 49

Author(s):

Yoshihisa Kida ◽

Tatsuya Kobayashi ◽

Jun Yoshida ◽

Kyouzou Kato ◽

Naoki Kageyama

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Germ Cell Tumors ◽

Pineal Region ◽

The Other ◽

Content Type ◽

Suprasellar Region ◽

Group A ◽

The Central Nervous System ◽

Group B

✓ Therapeutic results in 17 cases of alpha-fetoprotein (AFP)-secreting tumors of the central nervous system are reported. Twelve of the patients were male and five female. The patients' ages ranged from 5 years to 25 years (mean 13.6 years). The tumors originated in the pineal region in 10 cases, in the suprasellar region in four cases, and in both regions in one case; of the other two tumors, one originated in the basal ganglia and one in the sacrococcygeal region. Extraneural metastases or subarachnoid dissemination occurred in seven cases. Increased AFP titer in the serum or cerebrospinal fluid was verified in 13 cases. The patients were divided into two groups: those treated before (Group A) and those treated after (Group B) the introduction in 1980 of cisplatin as a chemotherapeutic agent. All seven Group A patients died, even after extensive therapy consisting of surgery, radiotherapy, and chemotherapy (ACNU or adriamycin) in some of the cases. The mean survival time following diagnosis for Group A was 23.7 months. Six of the 10 Group B patients died an average of 25.8 months after diagnosis; however, the other four were still alive and well an average of 25.3 months after diagnosis. The tumors responded well to chemotherapy consisting of cisplatin either alone or combined with bleomycin and vinblastine. The initial response rate to treatment in Group B was 100% and five cases had a complete remission, verified by computerized tomography or the serum AFP level. Once the tumor recurred, the response to cisplatin was markedly decreased. It is suggested that an effective therapy must still be sought for recurrent tumors.

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The Diagnostic Value of Brain Magnetic Resonance Imaging in Detecting CNS Diseases Among Advanced AIDS Patients

Infection International ◽

10.1515/ii-2017-0093 ◽

2014 ◽

Vol 3 (4) ◽

pp. 173-178

Author(s):

Fang Zhao ◽

Li-qing Sun ◽

Yi-mei Tian ◽

Liu-mei Xu ◽

Pu-xuan Lu ◽

...

Keyword(s):

Central Nervous System ◽

Nervous System ◽

T Cell ◽

Statistical Significance ◽

Brain Mri ◽

Brain Magnetic Resonance Imaging ◽

Aids Patients ◽

Cns Diseases ◽

Group A ◽

Group B

Abstract Objective To investigate the diagnostic value of brain magnetic resonance imaging in detecting central nervous system diseases among AIDS patients of different levels of T cells. Methods Total of 164 AIDS patients who did not receive antiviral treatment were divided into 2 groups according to their baseline CD4+ T cell counts. Group A had CD4+ T cell below or equal to 50 cells/μl (n = 81) and group B had CD4+ T cells over 50 cells/μl (n = 83). All patients underwent brain MRI scan. Imaging analysis and the prevalence of the central nervous system disorders were compared between two groups. Results Among them 48 cases were found of abnormal brain MRI, group A was higher than group B (35.8% vs. 22.9%) although without statistical significance (P = 0.065). Altogether 48 cases were diagnosed as AIDS related central nervous system disorders based on clinical symptoms, signs and laboratory findings. The prevalence of CNS disorders was higher in group A than in group B (41.9% vs. 16.8%) with statistical significance (P < 0.01). Conclusions The patients with CD4+ T cell count less than or equal to 50 cells/μl had high prevalence of CNS diseases. Brain MRI plays an important role in the diagnosis and differentiation of CNS diseases in advanced AIDS patients. This study suggests patients with low CD4+ T cell count (≤ 50/μl) should routinely undergo MRI examination.

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Microglia Polarization in Heat-Induced Early Neural Injury

Archives of Medical Science ◽

10.5114/aoms/116550 ◽

2021 ◽

Author(s):

lei wang ◽

zhao jing ◽

yi zhang

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Early Brain Injury ◽

Central Nervous System Injury ◽

Control Group ◽

Protein Markers ◽

Microglia Polarization ◽

Group A ◽

Group B ◽

Brain Tissues

Introductionobserve the polarization of microglia in response to heat-induced early nerve injury and to explore its possible mechanism of action.Material and methods18 dogs were divided into control (group A) and experimental groups (group B, C and D) ，Western blot analysis was used to detect the expression of microglia-specific markers CD45, iNOS, Arginase, and CD206 in normal and heat-damaged brain tissues at different time points (1 h, 6 h, 24 h).ResultsCD45 and iNOS were detected in group A. The two protein markers in group B were significantly higher than those in group A (P < 0.05), and in group C were still higher than those in group A (P < 0.05). Arginase and CD206 were also detected in group A. they in group B were higher than those in group A (P < 0.05), and in group C were even higher than those in group A (P < 0.05). Immunofluorescence co-localization of CD45 and Arginase showed significantly increased fluorescence density at 6 h and 24 h after thermal injury (P < 0.001).ConclusionsAfter heat-induced disease, microglia were found active in the brain tissues of dogs. The microglia activated in the early 1-6 h of central nervous system injury were mainly the M1 type, which were then converted to the M2 type after 6 h. The 24 h M2 type was dominant. The relationship between M1/M2 polarization trends and early brain injury in heat-induced disease may be a key to understanding central nervous system injury in heat-induced disease.

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OS8.4 Impact of brain invasion assessment on outcome in intracranial grade II meningiomas

Neuro-Oncology ◽

10.1093/neuonc/noz126.054 ◽

2019 ◽

Vol 21 (Supplement_3) ◽

pp. iii16-iii16

Author(s):

T Picart ◽

C Dumot ◽

F Ducray ◽

A Durand ◽

J Guyotat ◽

...

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Who Classification ◽

Time To Progression ◽

Brain Invasion ◽

Group A ◽

The Central Nervous System ◽

Grade Ii ◽

Group B

Abstract BACKGROUND Brain invasion has already been identified as an independent criterion of meningioma recurrence by Jääskaläinen’s in 1986. While it was only suggested that meningiomas harbouring brain invasion could be staged as grade II in the 2007 WHO Classification of Tumours of the Central Nervous System, brain invasion was clearly listed as a grade II atypical meningioma criterion for the first time in the 2016 version. Since 2007, brain invasion has been carefully screened during the histopathological characterisation of meningiomas in our centre thanks to specific training of the neuropathology department staff. Furthermore, neurosurgeons are asked to provide well-preserved and grossly orientable tumours borders whenever possible. The aim of the present study was to compare the characteristics of patients diagnosed with grade II meningiomas before and after this change of practices. MATERIAL AND METHODS We retrospectively reviewed the characteristics of 125 patients with grade II meningiomas diagnosed between 2011 and 2014 (group A) and compared them to those of 166 patients with grade II meningiomas diagnosed between 1998 and 2005 (group B). RESULTS Tumour location and socio-demographic parameters were comparable in group A and B with a median age of 62 years in both groups (p=0.18). There were more de novo meningiomas in group A (84% vs 68.7%, p=0.004). Brain invasion was found in 59% in group A and 9% in group B (p=0.00001) while median Ki67 labelling was of 8.4% in group A and 10.5% in group B (p=0.04). Consistently, tumour borders were irregular in 52% in group A and 29% in group B (p=0.0002). Progression free survival was similar in the two groups (65 vs 66 months, p=0.92) but grade progression was more frequently observed in group B (18.9% vs 0%, p=0.006). In group A, meningiomas that were classified as grade II exclusively based on brain infiltration (n=33, group A-bi) had a similar progression rate compared to meningiomas with other criteria of atypia (27% vs 25%, p=0.98) and a similar time to progression (32 vs 32 months, p=0.74). The median time to progression of group A-bi meningiomas was also comparable to that of the other 258 pooled meningiomas (32 vs 40 months, p=0.40). CONCLUSION In accordance with the 2016 WHO Classification of Tumours of the Central Nervous System, the outcome of meningiomas defined as atypical solely based on brain infiltration seems to be comparable to that of meningiomas with other criteria of atypia. Appropriate coordination between neurosurgeons and neuropathologists is mandatory to optimally assess this criterion.

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Central nervous system involvement in children and adolescents with rhabdomyosarcoma. A report from the AIEOP Soft Tissue Sarcoma Committee

Neuro-Oncology Practice ◽

10.1093/nop/npy007 ◽

2018 ◽

Vol 5 (4) ◽

pp. 241-245

Author(s):

Marta Pierobon ◽

Andrea Ferrari ◽

Giovanni Scarzello ◽

Angela Tamburini ◽

Lucia Quaglietta ◽

...

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Soft Tissue ◽

Soft Tissue Sarcoma ◽

Children And Adolescents ◽

Central Nervous System Involvement ◽

Cns Disease ◽

Dismal Prognosis ◽

Group A ◽

Group B

Abstract Background Rhabdomyosarcoma (RMS) is a highly malignant tumor typically affecting children and adolescents. Central nervous system (CNS) dissemination is rare in RMS patients, but seems to have a particularly negative impact. The aim of this study was to analyze treatment and outcome of patients with RMS and evidence of CNS disease who were registered in the protocols coordinated by the Italian Soft Tissue Sarcoma Committee from March 1979 to December 2016. Methods We analyzed 39 patients with CNS disease. Depending on when their CNS disease was identified, we grouped patients as: Group A, at diagnosis; Group B, progression during treatment; Group C, at first relapse. Results Six patients were in Group A (2.7% of metastatic RMS patients at diagnosis); 24 were in Group B and 9 in Group C (6.5% of patients with tumor progression/relapse included in the protocols). Only 5 patients (4 in Group A, 1 in Group B) survived the event and are alive in complete remission with a median follow-up of 17.5 years. These 5 patients received systemic chemotherapy and craniospinal radiotherapy, and 2 of them also received intrathecal therapy with topotecan. Conclusions CNS involvement at diagnosis is a rare and prognostically negative event in RMS patients, but not always fatal when it is found at diagnosis. It is more frequent during or shortly after treatment, and the more dismal prognosis in these cases underscores the need to improve our ability to identify patients at risk of CNS dissemination in order to attempt more effective treatments that can sterilize the meninges.

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