نتایج جستجو برای: hemimegalencephaly
تعداد نتایج: 239 فیلتر نتایج به سال:
Hemispherectomy has been performed in the treatment of epilepsy in association with hemiplegia for over 50 years. However, the optimal timing of surgery with respect to age at presentation and the influence of underlying pathology on outcome is only slowly emerging. This study reports on the clinical course and outcomes of 33 children who underwent hemispherectomy at Great Ormond Street Hospita...
BACKGROUND Facial infiltrating lipomatosis is a nonheritable disorder characterized by hemifacial soft-tissue and skeletal overgrowth, precocious dental development, macrodontia, hemimacroglossia, and mucosal neuromas. The authors tested the hypothesis that this condition is caused by a somatic mutation in the phosphatidylinositide-3 kinase (PI3K) signaling pathway, which has been indicted in o...
Incontinentia pigmenti (IP) is a rare X-linked dominant neurocutaneous disorder affecting ectodermal tissue: skin, eyes, central nervous system, hair, nails, and teeth. It is usually lethal for males in utero. The involved gene is NEMO, an essential component of the nuclear factor-kappa B (NF-κB) signaling pathway. Skin lesions are highly diagnostic, occurring in neonates, with a particular dis...
C owden syndrome (CS; OMIM 158350) is an autosomal dominant disorder with age related penetrance characterised by mucocutaneous lesions, macrocephaly and an increased risk of cancer, especially of the breast, thyroid and endometrium. 2 The phenotype in CS has proven to be highly variable, which became especially evident after identification of the susceptibility gene PTEN. 4 This is also shown ...
We studied the effects of transcutaneous electrical nerve stimulation (TENS) in six right-brain-damaged patients with left unilateral spatial neglect (USN), using both standard clinical tests (reading, line, and letter cancelation, and line bisection), and electrophysiological measures (steady-state visual-evoked potentials, SSVEP). TENS was applied on left neck muscles for 15', and measures we...
We have recently shown that unilateral naris occlusion (UNO) causes an increase in olfactory marker protein (OMP) immunoreactivity (IR) in mouse olfactory sensory neurons (OSN) from the occluded side of the nasal cavity and a decrease in OMP-IR on the non-occluded side, relative to controls. Given OMP's demonstrated role in olfactory modulation, these OMP-IR changes have been interpreted as a c...
OBJECTIVE To compare the oncologic and obstetric outcomes in reproductive-age females with borderline ovarian tumors (BOTs) treated with cyst enucleation (CE) or unilateral salpingo-oophorectomy (USO). METHODS The medical records of patients with BOTs treated between 1998 and 2014 were retrospectively reviewed. The recurrence rates in the USO and CE groups were compared, and the postoperative...
BACKGROUND Sphenoid wing meningiomas extending to the orbit (ePMSW) are currently removed through several transcranial approaches. Presenting the largest surgical cohort of hyperostosing ePMSW with the longest follow up period, we will provide data supporting minilateral orbitotomy with excellent exposure for wide resection of all compartments of the tumor. METHODS A retrospective survival an...
Objective: This study was conducted to assess the prevalence of different types of gross testicular disorders in bulls, and to evaluate the associations with sampling year, age, and body condition. Materials and methods: In this study, a total of 398 apparently healthy bulls were randomly selected that were brought from different parts of eastern Ethiopia to the Haramaya University abattoir for...
Little is known about the physiological responses and genetic mutations associated with reproductive isolation between species, especially for postmating prezygotic isolating barriers. Here, we examine changes in gene expression that accompany the expression of 'unilateral incompatibility' (UI)-a postmating prezygotic barrier in which fertilization is prevented by gamete rejection in the reprod...
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