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PURPOSE: Hamartomas of tuber cinereum present as ectopic tissue in the hypothalamic region. Clinically, the usual hypothalamic hamartomas manifest themself by gelastic seizures and pubertas praecox. We observed an increased coincidence of the presence of X-linked recessive deafness DFNX2 (DFN3) and a hamartoma of the tuber cinereum. Initially five patients presented with hearing loss in childhood, two additional were already adults, not showing any characteristic symptoms for a hamartoma but signs of delayed puberty. METHODS: Seven patients who underwent computed tomography imaging due to a sensorineural hearing loss and had a hamartoma of the tuber cinereum in addition to X-linked deafness DFNX2 (DFN3) were included in a retrospective study. Patients underwent initial neurologic, endocrinologic, and genetic evaluation. Long-term follow-up was performed after 10 to 12 years. RESULTS: The average age at the initial exam was 12.9 years (range 4-29). All patients genetically proven nonsyndromic, X-linked deafness associated with the POU3F4 gene. Three out of six patients presented signs of delayed puberty. None of all seven showed any evidence of pubertas praecox or gelastic seizures at mean age of 17 years (range 17-29 years) at any time. CONCLUSION: Hamartomas of tuber cinereum are often coincident with DFNX2. Clinically, half of the cases are-in contrary to the usual pubertas praecox-associated with growth hormone deficiency and delayed puberty, in the sense of pubertas tarda, when coincident. Clinicians' and radiologists' knowledge and awareness of this rare combination are crucial to identify children early enough for hormone-sensitive treatment.
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Patients with inoperable glioblastoma (GBM) usually experience worse prognosis compared to those in whom gross total resection (GTR) is achievable. Considering the treatment duration and its side effects identification of patients with survival benefit from treatment is essential to guarantee the best achievable quality of life. The aim of this study was to evaluate the survival benefit from radio-chemotherapy and to identify clinical, molecular, and imaging parameters associated with better outcome in patients with biopsied GBMs. Consecutive patients with inoperable GBM who underwent tumor biopsy at our department from 2005 to 2019 were retrospectively analyzed. All patients had histologically confirmed GBM and were followed up until death. The overall survival (OS) was calculated from date of diagnosis to date of death. Clinical, radiological, and molecular predictors of OS were evaluated. A total of 95 patients with biopsied primary GBM were enrolled in the study. The mean age was 64.3 ± 13.2 years; 56.8% (54/95) were male, and 43.2% (41/95) female. Median OS in the entire cohort was 5.5 months. After stratification for adjuvant treatment, a higher median OS was found in the group with adjuvant treatment (7 months, range 2-88) compared to the group without treatment (1 month, range 1-5) log-rank test, p < 0.0001. Patients with inoperable GBM undergoing biopsy indeed experience a very limited OS. Adjuvant treatment is associated with significantly longer OS compared to patients not receiving treatment and should be considered, especially in younger patients with good clinical condition at presentation.
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Neoplasias Encefálicas , Glioblastoma , Idoso , Biópsia , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/cirurgia , Feminino , Glioblastoma/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Qualidade de Vida , Estudos Retrospectivos , Resultado do TratamentoRESUMO
PURPOSE: With an incidence between 1-9/100â000 per year, Langerhans cell histiocytosis (LCH) is a rather rare disease from the hemato-oncologic disease spectrum (Hayes et al. 2009). The tumorlike disease with proliferation of histiocytic cells may manifest as localized to one organ or disseminated with infiltration of a wide variety of organs. Approximately 25-30â% of these cases show involvement of the temporal bone (Ni et al. 2017). CASE DESCRIPTION: With vertigo persisting for three years, chronic mastoiditis, and acute progressive hearing loss bilaterally (r > l) for three weeks, a 41-year-old woman presented at an emergency department. The DVT showed extensive bony destruction of large parts of the temporal bone on both sides, involving the vestibular organ, the cochlea, and the internal auditory canal. To confirm the suspicion of a systemic inflammatory process, a PE was performed from the mastoid with bioptic confirmation of an LCH. Systemic therapy was initiated. Post-therapeutic imaging showed almost complete remission with reossification of the preexisting defect zones and the internal auditory canal and labyrinth structures again showed bony margins. Clinically, there was an improvement of the vegetative symptoms with remaining bilateral sensorineural hearing loss. DISCUSSION: LCH of the temporal bone is a rare and often misdiagnosed disease due to its nonspecific clinical presentation. Awareness of temporal bone LCH and its occurrence in adults is essential for accurate and consistent diagnosis. KEY POINTS: · LCH is a rather rare disease from the hemato-oncological spectrum. · Affection of the temporal bone, especially such an extensive one (as in this case report), is rather atypical in adulthood. · Use of systemic therapy resulted in remission. · There was complete reossification of the osseous structures post-therapy. · A cochlear implant was able to be implanted to compensate for hearing loss.
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OBJECTIVE: Malnutrition is often underestimated in the context of cancer therapy: the dietary trends initiated by patients after diagnosis are usually neither known to nor evaluated by the medical staff. Here, we propose a combined screening instrument evaluating malnutrition and dietary trends. METHODS: The validated screening tool NRS-2002 was combined with a four-item questionnaire assessing whether (1) patients preferred certain foods, (2) avoided certain foods, (3) used dietary supplements or followed a special diet since the time of cancer diagnosis. The screening tool was routinely used by cancer patients in the daily practice of three oncological departments. The presented analysis was performed retrospectively and anonymized. RESULTS: Overall, 102 cancer patients undergoing systemic therapy (CP), 97 undergoing radiation therapy (RP), and 36 head-neck cancer patients (HNP) were screened. The CP cohort showed a higher rate of malnutrition (50.00%) than the HNP (28.13%) or RP (26.80%) cohort. Overall, diet changes were observed in 33.63% of all patients. Avoiding meat, stimulants, or hard and edgy food was often mentioned in free text answers, while patients reported a preference for fruit and vegetables. Nutritional supplements were used by 28.76% of the patients. While dietary changes were common, only 6.64% of the patients mentioned adhering to a specific cancer diet. CONCLUSION: Malnutrition is still underestimated nowadays. Diet trends, especially avoiding certain foods, are common in cancer patients, while adhering to a specific cancer diet is an exception. Diet trends should be assessed and addressed to avoid or aggravate malnutrition.
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Neoplasias de Cabeça e Pescoço , Desnutrição , Humanos , Estudos Retrospectivos , Dieta , RefeiçõesRESUMO
PURPOSE: The Pipeline Vantage flow diverter with Shield technology (PV) used in this study is a 4th-generation flow diverter (FD) designed to reduce thrombogenicity, promote endothelialization of the implant and increase efficiency in achieving aneurysm closure. In this study, we report the aneurysm occlusion rate, complication rate and clinical outcome with short-term dual antiplatelet therapy (DAPT) in the treatment of unruptured intracranial saccular aneurysms using the PV. METHODS: We retrospectively identified patients treated between September 2021 and January 2023 with the PV and subsequently underwent short-term DAPT for 3 months. Patient and aneurysm characteristics, peri- and post-procedural complications, clinical outcomes and the grade of aneurysm occlusion were documented. RESULTS: Thirty patients with 32 aneurysms were treated. Successful FD implantation was achieved in all cases (100%). No periprocedural complications were documented. The overall symptomatic complication rate was 10% and the neurologic, treatment-related symptomatic complication rate was 6.6%. Only one symptomatic complication (3.3%) was device-related. Permanent clinical deterioration occurred in 2/30 patients (6.6%), leading to deterioration of the mRS within the first 3 months after treatment. No mortality was documented. The rate of complete aneurysm occlusion after 3 months and after a mean imaging follow-up of 9.9 months was 65.6% and 75%, respectively. CONCLUSION: Implantation of the PV for the treatment of saccular intracranial aneurysms achieves a good aneurysm occlusion rate with a low rate of complications. In addition, the use of short-term DAPT after PV implantation appears to be safe.
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Approximately 25% of glioblastomas show at diagnosis a corpus callosum infiltration, which is associated with poor prognosis. The extent of corpus callosum involvement, however, ranges from partial unilateral to complete bilateral infiltration. The role of surgery in glioblastoma with corpus callosum involvement is controversial. In this study, we aimed to examine prognostic differences between glioblastoma with unilateral and glioblastoma with bilateral corpus callosum infiltration, and to evaluate possible treatment strategy implications. Patients with newly diagnosed glioblastoma from 2010 to 2019 were included. Corpus callosum infiltration was assessed in contrast-enhanced T1-weighted preoperative magnetic resonance imaging. Extent of resection, adjuvant treatments and overall survival were evaluated. Corpus callosum involvement was found in 96 (26.4%) out of 363 patients with newly diagnosed glioblastoma. Bilateral corpus callosum infiltration was found in 27 out of 96 patients (28%), and 69 patients had unilateral corpus callosum infiltration. Glioblastoma with corpus callosum affection had significantly lower median overall survival compared to glioblastoma without corpus callosum involvement (9 vs. 11 months, p = 0.02). A subgroup analysis of glioblastoma with unilateral corpus callosum infiltration revealed a significant difference in median overall survival dependent on extent of resection (6.5 without gross total resection vs. 11 months with gross total resection, Log-rank test p = 0.02). Our data confirms a shorter overall survival in glioblastoma subpopulation with corpus callosum involvement, especially for glioblastoma with bilateral corpus callosum infiltration. However, patients with partial corpus callosum infiltration undergoing gross total resection exhibited a significant survival benefit compared to their counterparts without gross total resection. Whenever reasonably achievable gross total resection should be considered as an integral part of the treatment strategy in glioblastoma with partial corpus callosum infiltration.
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Neoplasias Encefálicas , Glioblastoma , Humanos , Glioblastoma/diagnóstico por imagem , Glioblastoma/terapia , Corpo Caloso/diagnóstico por imagem , Prognóstico , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/terapia , Estudos RetrospectivosRESUMO
Objective: Cerebral vasospasm (CVS) represents one of the multiple contributors to delayed cerebral ischemia (DCI) in patients with aneurysmal subarachnoid hemorrhage (aSAH). Especially the management of CVS, refractory to medical treatment, is a challenging task during the acute phase after aSAH. Endovascular rescue therapies (ERT), such as medical and mechanical dilation, are possible treatment options on an individual basis. However, data about the influence on the patients' functional outcomes are limited. This study aims to assess the impact of ERT on the long-term functional outcome in aSAH-patients with refractory CVS. Methods: We performed a retrospective analysis of aSAH patients treated between 2012 and 2018. CVS was considered refractory, if it persisted despite oral/intravenous nimodipine application and induced hypertension. The decision to perform ETR was made on an individual basis, according to the detection of "tissue at risk" on computed tomography perfusion (CTP) scans and CVS on computed tomography angiography (CTA) or digital subtraction angiography (DSA). The functional outcome was assessed according to the modified Rankin scale (mRS) 3 months after the ictus, whereas an mRS ≤ 2 was considered as a good outcome. Results: A total of 268 patients were included. Out of these, 205 patients (76.5%) were treated without ERT (group 1) and 63 patients (23.5%) with ERT (group 2). In 20 patients (31.8%) balloon dilatation was performed, in 23 patients (36.5%) intra-arterial nimodipine injection alone, and in 20 patients (31.8%) both procedures were combined. Considering only the patient group with DCI, the patients who were treated with ERT had a significantly better outcome compared to the patients without ERT (Mann-Whitney test, p = 0.02). Conclusion: Endovascular rescue therapies resulted in a significantly better functional outcome in patients with DCI compared to the patient group treated without ETR. CTP and CTA-based identification of "tissue at risk" might be a reliable tool for patient selection for performing ERT.
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Nimodipine prevents cerebral vasospasm and improves functional outcome after aneurysmal subarachnoid hemorrhage (aSAH). The beneficial effect is limited by low oral bioavailability of nimodipine, which resulted in an increasing use of nanocarriers with sustained intrathecal drug release in order to overcome this limitation. However, this approach facilitates only a continuous and not an on-demand nimodipine release during the peak time of vasospasm development. In this study, we aimed to assess the concept of controlled drug release from nimodipine-loaded copolymers by ultrasound application in the chicken chorioallantoic membrane (CAM) model. Nimodipine-loaded copolymers were produced with the direct dissolution method. Vasospasm of the CAM vessels was induced by means of ultrasound (Physiomed, continuous wave, 3 MHz, 1.0 W/cm2). The ultrasound-mediated nimodipine release (Physiomed, continuous wave, 1 MHz, 1.7 W/cm2) and its effect on the CAM vessels were evaluated. Measurements of vessel diameter before and after ultrasound-induced nimodipine release were performed using ImageJ. The CAM model could be successfully carried out in all 25 eggs. After vasospasm induction and before drug release, the mean vessel diameter was at 57% (range 44-61%) compared to the baseline diameter (set at 100%). After ultrasound-induced drug release, the mean vessel diameter of spastic vessels increased again to 89% (range 83-91%) of their baseline diameter, which was significant (p = 0.0002). We were able to provide a proof of concept for in vivo vasospasm induction by ultrasound application in the CAM model and subsequent resolution by ultrasound-mediated nimodipine release from nanocarriers. This concept merits further evaluation in a rat SAH model.
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Hemorragia Subaracnóidea , Vasoespasmo Intracraniano , Animais , Micelas , Nimodipina , Ratos , Ultrassonografia , Vasodilatadores , Vasoespasmo Intracraniano/diagnóstico por imagem , Vasoespasmo Intracraniano/tratamento farmacológico , Vasoespasmo Intracraniano/etiologiaRESUMO
Cerebral vasospasm is a highly investigated phenomenon in neurovascular research. Experimental vasospasm models are irreplaceable for the evaluation of new antivasospastic drugs. In this study, we assessed the reliability of in vivo vasospasm induction by ultrasound application in the chicken chorioallantoic membrane (CAM) model. After incubation of fertilized chicken eggs for four days, a fenestration was performed to enable examination of the CAM vessels. On the thirteenth day, continuous-wave ultrasound (3 MHz, 1 W/cm2) was applied on the CAM vessels for 60 s. The ultrasound effect on the vessels was recorded by life imaging (5-MP HD-microscope camera, Leica®). The induced vessel diameter changes were evaluated in a defined time interval of 20 min using a Fiji macro. The vessel diameter before and after sonication was measured and the relative diameter reduction was determined. A first reduction of vessel diameter was observed after three minutes with an average vessel-diameter decrease to 77%. The maximum reduction in vessel diameter was reached eight minutes after sonication with an average vessel diameter decrease to 57% (mean relative diameter reduction of 43%, range 44-61%), ANOVA, p = 0.0002. The vasospasm persisted for all 20 recorded minutes post induction. Vasospasm can be reliably induced by short application of 3 MHz-ultrasound to the CAM vessels. This might be a suitable in vivo model for the evaluation of drug effects on vasospasm in an experimental setting as intermediary in the transition process from in vitro to in vivo assessment using animal models.
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Membrana Corioalantoide , Vasoespasmo Intracraniano , Animais , Galinhas , Membrana Corioalantoide/irrigação sanguínea , Reprodutibilidade dos Testes , UltrassonografiaRESUMO
PURPOSE: Aneurysmal subarachnoid hemorrhage (aSAH) is associated with a high risk of developing multiple complications requiring further diagnostics including imaging associated with radiation exposure (RE). Since aSAH often affects younger patients, the obtained cumulative RE may have serious long-term health consequences. The aim of this study was to calculate the cumulative RE in the acute phase after aSAH and to identify contributors to RE. Additionally, we investigated whether there is a correlation of RE with outcome. METHODS: A retrospective analysis of patients with aSAH treated at our department from 2012 to 2018 was performed. The radiation dose of every single cranial radiological examination was calculated for every patient. The outcome was assessed according to the modified Rankin scale (mRS) 3 months after ictus. Factors associated with high RE were evaluated and the correlation of RE with outcome was assessed. RESULTS: In 268 included consecutive patients, the mean cumulative RE per patient was 39.95â¯mSv, ranging from 2 to 265.5â¯mSv. A higher RE correlated with delayed cerebral ischemia (râ¯= 0.52, pâ¯< 0.0001), delayed infarction (râ¯= 0.25, pâ¯< 0.0001), delayed ischemic neurological deficits (râ¯= 0.29, pâ¯< 0.0001) and transcranial Doppler (TCD)-vasospasm (râ¯= 0.34, pâ¯< 0.0001). Independent predictors of outcome were age (pâ¯= 0.0001), World Federation of Neurosurgical Societies (WFNS) grade (pâ¯< 0.0001) and delayed infarction (pâ¯= 0.0004), while RE did not correlate with outcome. CONCLUSION: There is a considerable imaging-related RE in aSAH patients. A meticulous decision-making process and imaging protocols with lower RE for the deployment of CT-based and fluoroscopy-based imaging is indicated in order to minimize the risk for radiation-mediated heath consequences in this patient population.