Results 71 to 80 of about 56,718 (308)

Patient‐Mounted Neuro Optical Coherence Tomography for Targeted Minimally Invasive Micro‐Resolution Volumetric Imaging in Brain In Vivo

open access: yesAdvanced Intelligent Systems, Volume 7, Issue 3, March 2025.
Herein, a patient‐mounted neuro optical coherence tomography system that integrates a 5 degrees‐of‐freedom skull‐mounted robot (Skullbot) with a 0.6 mm neuroendoscope for targeted, minimally invasive deep brain imaging, is developed. The system offers high‐resolution imaging with precise deployment, demonstrated through successful tumor imaging in a ...
Chao Xu   +7 more
wiley   +1 more source

Case report: Cochlear implantation for deafness caused by endolymphatic sac tumors in patients with von Hippel–Lindau syndrome

open access: yesFrontiers in Oncology
IntroductionEndolymphatic sac tumors (ELSTs) are rare neuroectodermal neoplasms that originate in the endolymphatic sac and duct. They exhibit no specific age or gender predilection, although they are more prevalent in patients with von Hippel–Lindau ...
Oskar Rosiak   +5 more
doaj   +1 more source

Imaging for juvenile angiofibroma [PDF]

open access: yes, 2002
Juvenile angiofibroma presents characteristic imaging signs, many of which allow diagnosis and accurate estimation of extent without recourse to the dangers of biopsy.
Howard, D, Lloyd, G, Lund, VJ, Savy, L
core   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken   +4 more
wiley   +1 more source

Diagnostic confusion resulting from CD56 expression by cutaneous myeloid sarcoma

open access: yesRare Tumors, 2009
Myeloid sarcomas are tumor masses composed of aggregates of malignant myeloid precursors in extramedullary sites including the skin. We report a case of myeloid sarcoma in a patient who presented with an ear lobe mass and facial nerve paralysis ...
Sheeja T. Pullarkat   +3 more
doaj   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide   +10 more
wiley   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio   +11 more
wiley   +1 more source

Malignant lymphomas in transplantation patients: a review of the world experience. [PDF]

open access: yes, 1970
Malignant lymphomas developed in 9 renal homograft recipients treated at widely separated transplantation centers. The development of these tumors appears to be an indirect complication of organ transplantation and/or the measures taken to prevent ...
Penn, I, Starzl, TE
core  

Feline primary erythrocytosis: a multicentre case series of 18 cats [PDF]

open access: yes, 2018
A retrospective multicentre case series of feline primary erythrocytosis (PE) was evaluated. The aim was to gain better understanding of disease presentation and progression to guide management and prognostication. Case records were assessed for evidence
Balazs Szladovits   +7 more
core   +2 more sources

Local Specific IgE Levels Can Predict and Monitor the Therapeutic Response to Subcutaneous Immunotherapy With House Dust Mite

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Identifying predictive and monitoring biomarkers for allergen immunotherapy response is crucial for enhancing clinical efficacy. This study aims to investigate the systemic and local levels of immunoglobulins and identify potential biomarkers in house dust mite (HDM) allergic rhinitis (AR) patients who are undergoing subcutaneous ...
Xu Xu   +6 more
wiley   +1 more source

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