Publications by authors named "Pernille Martens"

CEP78 is a centrosomal protein implicated in ciliogenesis and ciliary length control, and mutations in the gene cause retinal cone-rod dystrophy associated with hearing loss. However, the mechanism by which CEP78 affects cilia formation is unknown. Based on a recently discovered disease-causing p.

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Cerebral radiation necrosis is the most serious late reaction to high doses of ionising radiation to the brain, and its treatment is generally unsatisfactory. We present a patient who developed cerebral radiation necrosis after protracted fluoroscopy during repeated embolisations of an extracranial arteriovenous malformation. Treatment with bevacizumab (a humanised murine monoclonal antibody against vascular endothelial growth factor) was followed by neurological and radiological improvements.

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Objective: To systematically describe central (CNS) and peripheral (PNS) nervous system complications in hospitalized COVID-19 patients.

Methods: We conducted a prospective, consecutive, observational study of adult patients from a tertiary referral center with confirmed COVID-19. All patients were screened daily for neurological and neuropsychiatric symptoms during admission and discharge.

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Introduction: Apraxia of eyelid opening (AEO) refers to impaired voluntary eyelid elevation of supranuclear origin. AEO is well-described in neurodegenerative disorders, but its frequency in stroke is unknown.

Methods: To investigate the frequency of AEO after stroke, we enrolled patients with an anterior circulation occlusion admitted for endovascular thrombectomy (EVT).

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Background: Patient head motion is a major concern in clinical brain MRI, as it reduces the diagnostic image quality and may increase examination time and cost.

Purpose: To investigate the prevalence of MR images with significant motion artifacts on a given clinical scanner and to estimate the potential financial cost savings of applying motion correction to clinical brain MRI examinations.

Study Type: Retrospective.

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Article Synopsis
  • CEP78 gene variants are linked to a specific condition called cone-rod dystrophy with hearing loss (CRDHL), which differs from Usher syndrome.
  • Researchers identified a new missense variant, c.449T>C, p.(Leu150Ser), in multiple families, indicating a potential founder effect.
  • The variant affects protein stability and is associated with elongated primary cilia, sperm abnormalities, and even male infertility, suggesting that CEP78's role in related conditions may be broader than previously thought.
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Article Synopsis
  • Cortical activity related to cognitive and emotional processes may affect how pupils respond, but the specific neural pathways involved are unclear.
  • A study on 74 stroke patients focused on how ischemic infarcts in the insular cortex and prefrontal eye field influenced pupil function, comparing them to controls without neurological issues.
  • Results indicated that while pupil responses (like light reflex) were generally normal, there were distinctive correlations for pupil size and constriction velocity that varied depending on the location of brain infarcts, particularly noting differences between left and right hemisphere strokes.
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Preclinical studies suggest that gallbladder emptying, via bile acid-induced activation of the G protein-coupled receptor TGR5 in intestinal L cells, may play a significant role in the secretion of the incretin hormone glucagon-like peptide-1 (GLP-1) and, hence, postprandial glucose homeostasis. We examined the secretion of gut hormones in cholecystectomized subjects to test the hypothesis that gallbladder emptying potentiates postprandial release of GLP-1. Ten cholecystectomized subjects and 10 healthy, age-, gender-, and body mass index-matched control subjects received a standardized fat-rich liquid meal (2,200 kJ).

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Article Synopsis
  • - PAC is a rare condition where tissue from Meckel's cave herniates into the petrous apex, but its exact cause is still unclear.
  • - A patient experienced symptoms like facial pain, hearing loss, and cerebrospinal fluid leakage, which were linked to PAC through imaging tests.
  • - The patient underwent a successful surgery using the middle fossa approach to correct the issue.
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Background: Invasive infection with Streptococcus pneumoniae (pneumococci) causes significant morbidity and mortality. Case series and experimental data have shown that the capsular serotype is involved in the pathogenesis and a determinant of disease outcome.

Methods: Retrospective review of 464 cases of invasive disease among adults diagnosed between 1990 and 2001.

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