Results 91 to 100 of about 38,064 (238)

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa   +7 more
wiley   +1 more source

Malignant peripheral nerve sheath tumor of the cervical vagus nerve in a neurofibromatosis type 1 patient - An unusual presentation [PDF]

open access: yes, 2010
Malignant peripheral nerve sheath tumors (MPNST’S) of the head and neck comprise 2% to 6% of head and neck sarcomas. These tumors may arise as sporadic variants or in patients with neurofibromatosis (NF).
Bahl, A, Bansal, S, Bhagat, S, Gupta, A
core   +1 more source

Neurofibromin knockdown in glioma cell lines is associated with changes in cytokine and chemokine secretion in vitro. [PDF]

open access: yes, 2018
The neurofibromin-1 tumor suppressor gene (NF1) is altered in approximately 20% of sporadic glioblastoma (GBM) cases. NF1 deficient GBM frequently shows a mesenchymal gene expression signature, suggesting a relationship between NF1 status and the tumor ...
Mukherjee, Joydeep   +2 more
core   +3 more sources

Pediatric spinal ependymomas: Long‐term surgical outcomes in a cohort of 61 cases

open access: yesPediatric Investigation, EarlyView.
Spinal ependymomas are rare in children, with limited long‐term outcome data. In this retrospective study of 61 pediatric patients undergoing surgical resection, gross total resection was achieved in 62.3% and was associated with favorable functional improvement. Recurrence was observed in 31.1% of cases.
Liang Zhang   +3 more
wiley   +1 more source

Schwannoma of the tongue in a child [PDF]

open access: yes, 2010
A schwannoma or neurilemmoma is a benign, slow growing, usually solitary and encapsulated tumour originating from Schwann cells of the nerve sheath.
Lukšić, Ivica   +4 more
core   +1 more source

No increased risk of spinal cerebrospinal fluid leak after spinal manipulative therapy: A retrospective cohort study

open access: yesPM&R, EarlyView.
Abstract Background Spinal cerebrospinal fluid (CSF) leaks, a rare but debilitating condition, have been described following spinal manipulative therapy (SMT) in case reports. However, the nature of the potential association between SMT and CSF leak is uncertain, and symptoms such as neck pain or headache may reflect preexisting leaks rather than ...
Robert J. Trager   +4 more
wiley   +1 more source

Ocular manifestations of Sturge–Weber syndrome: pathogenesis, diagnosis, and management [PDF]

open access: yes, 2016
Sturge-Weber syndrome has been included in the group of phakomatoses that is characterized by hamartomas involving the brain, skin, and eyes. The characteristic facial port-wine stain, involving the first branch of the trigeminal nerve and the embryonic ...
Abdolrahimzadeh, Solmaz   +4 more
core   +1 more source

Audiological Characteristics in Vestibular Schwannoma Patients

open access: yesWorld Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Objective Vestibular schwannoma (VS) is a benign tumor that originates from the Schwann cells of the vestibular nerve sheath in the internal auditory canal. This retrospective study collected data from patients with VS who underwent surgical treatment to identify their demographic characteristics and audiometric features.
Shan Zeng   +4 more
wiley   +1 more source

NEUROFIBROMATOSIS TIPO I DIAGNOSTICADA EN EL EMBARAZO

open access: yesRevista Chilena de Obstetricia y Ginecología, 2004
Se presenta un caso clínico de neurofibromatosis tipo I diagnosticada a las 28 semanas de embarazo con evolución materna y fetal satisfactoriaA clinical case of neurofibromatosis type I is presented with diagnosis at 28 weeks of pregnancy with ...
René Rivera Z   +3 more
doaj  

Neurofibromatosis type 1 or Von Recklinghausen's disease. A case report

open access: yesMedisur, 2023
Neurofibromatosis type I or Von Recklinghausen's disease is one of the genetic diseases that affect the nervous system, named for its common embryonic origin.
Marisleidy Denis Rodríguez   +3 more
doaj  

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