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1.
Cureus ; 16(2): e55202, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38425333

RESUMO

Dysautonomia is a disruption of the body's autonomic processes. Symptoms vary among patients, depending on the underlying disease pathways. Given that symptoms can affect all organ functions, dysautonomia often significantly impacts quality of life. However, due to its complex and varied presentation, early recognition of dysautonomia remains a challenge, yet it is crucial for improving patient outcomes. We report a case of a patient with a KRIT1 mutation presenting with dysautonomia causing urological, sexual, and bowel dysfunction. We hypothesize that the patient's symptoms are due to a pontine cavernous malformation (CM) caused by the KRIT1 mutation. A literature review was conducted to establish a link between pontine CM and dysautonomia.

2.
Otol Neurotol ; 40(5S Suppl 1): S51-S58, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31225823

RESUMO

OBJECTIVE: To design and evaluate a new vestibular implant and surgical procedure that should reach correct electrode placement in 95% of patients in silico. DESIGN: Computational anatomy driven implant and surgery design study. SETTING: Tertiary referral center. PARTICIPANTS: The population comprised 81 patients that had undergone a CT scan of the Mastoid region in the Maastricht University Medical Center. The population was subdivided in a vestibular implant eligible group (28) and a control group (53) without known vestibular loss. INTERVENTIONS: Canal lengths and relationships between landmarks were calculated for every patient. The relationships in group-anatomy were used to model a fenestration site on all three semicircular canals. Each patient's simulated individual distance from the fenestration site to the ampulla was calculated and compared with the populations average to determine if placement would be successful. MAIN OUTCOME MEASURES: Lengths of the semicircular canals, distances from fenestration site to ampulla (intralabyrinthine electrode length), and rate of successful electrode placement (robustness). RESULTS: The canal lengths for the lateral, posterior, and superior canal were respectively 12.1 mm ±â€Š1.07, 18.8 mm ±â€Š1.62, and 17.5 mm ±â€Š1.23, the distances from electrode fenestration site to the ampulla were respectively 3.73 mm ±â€Š0.53, 9.02 mm ±â€Š0.90, and 5.31 mm ±â€Š0.73 and electrode insertions were successful for each respective semicircular canal in 92.6%, 66.7%, and 86.4% of insertions in silico. The implant electrode was subsequently revised to include two more electrodes per lead, resulting in a robustness of 100%. CONCLUSIONS: The computational anatomy approach can be used to design and test surgical procedures. With small changes in electrode design, the proposed surgical procedure's target robustness was reached.


Assuntos
Eletrodos Implantados , Procedimentos Cirúrgicos Otológicos/instrumentação , Procedimentos Cirúrgicos Otológicos/métodos , Desenho de Prótese/métodos , Canais Semicirculares/cirurgia , Adulto , Algoritmos , Desenho Assistido por Computador , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Vestibulares/cirurgia , Vestíbulo do Labirinto/cirurgia
3.
Clin Transl Radiat Oncol ; 8: 22-26, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29594239

RESUMO

Eekers et al. have recently proposed a neuro-oncology atlas, which was co-authored by most centers associated in the European Proton Therapy Network (EPTN; Figure 1). With the introduction of new treatment techniques, such as integrated magnetic resonance imaging and linear accelerators (MR-linac) or particle therapy, the prediction of clinical efficacy of these more costly treatment modalities becomes more relevant. One of the side-effects of brain irradiation, being cognitive decline, is one of the toxicities most difficult to measure and predict. In order to validly compare different treatment modalities, 1) a uniform nomenclature of the organs at risk (OARs), 2) uniform atlas-based delineation [e.g., Eekers et al.], 3) long-term follow-up data with standardized cognitive tests, 4) a large patient population, and 5) (thus derived) validated normal tissue complication probability (NTCP) models are mandatory. Apart from the Gondi model, in which the role of the dose to 40% of both hippocampi (HC) proves to be significantly related to cognition in 18 patients, no similar models are available. So there is a strong need for more NTCP models, on HC, brain tissue and possible other relevant brain structures. In this review we summarize the available evidence on the role of the posterior cerebellum as a possible new organ at risk for cognition, which is deemed relevant for irradiation of brain and head and neck tumors.

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