Results 91 to 100 of about 49,367 (248)
Con el objetivo de caracterizar la Neurofibromatosis 1 (NF1) se realizó un estudio analítico y transversal en Pinar del Río, desde 2004 hasta 2007.
Orraca Castillo, Miladys
core
Audiological Characteristics in Vestibular Schwannoma Patients
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
Targeting KRAS for cancer therapy
In recent years, therapeutics targeted against KRAS proto‐oncogene GTPase (KRAS)‐mutant cancers have seen significant progress. Herein we outline the biology and epidemiology of KRAS alterations at the lineage and allele levels, reviewing the clinical evidence for KRASG12C inhibition from the discovery of the recessive switch pocket to sotorasib ...
Jianlong Jia +4 more
wiley +1 more source
Our study demonstrates that the angiotensin receptor blocker losartan enhances the efficacy of radiotherapy in triple‐negative breast cancer by reversing the immunosuppressive tumor microenvironment. Losartan reprograms tumor‐associated macrophages, inhibits myeloid‐derived suppressor cell function, and boosts CD8+ T‐cell activity.
Xu Wang +8 more
wiley +1 more source
Neurofibromatosis, the most common neurocutaneous syndrome, is characterized by numerous neural crest tumors and abnormal skin pigmentation. Genitourinary neurofibromatosis in children is extremely rare and bladder involvement is relatively common.
Jiaqi An, Jianwei Wang, Zhengqing Bao
doaj +1 more source
Embolization of a ruptured intercostal artery aneurysm in type I neurofibromatosis [PDF]
We present the case of a female with history of a ruptured lumbar aneurysm years ago. She was known to have neurofibromatosis type I with the typical clinical signs. The patient was transferred to us with a hematothorax and an aortic lesion was suspected
Thierry Carrel +7 more
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A deep‐intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo‐exon inclusion into the mRNA. The pseudo‐exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
Dorothea Stojanovic +3 more
wiley +1 more source
JOINT CHANGES IN NEUROFIBROMATOSIS
1 . Two patients with monomelic bone and joint changes in neurofibromatosis have been described. 2. The joint changes in neurofibromatosis include dysplasias, sclerosis of the articulating bone ends and secondary osteoarthritis.
A. C. Bingold
core +1 more source
The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree +18 more
wiley +1 more source
ENFERMEDAD DE VON RECKLINGHAUSEN Y EMBARAZO
La enfermedad de Von Recklinghausen (neurofibromatosis) es una condición autosómica dominante la cual ha tenido variables expresiones clínicas, con manifestaciones que van de lesiones cutáneas moderadas a complicaciones ortopédicas severas y alteraciones
Gregorio Evans M. +2 more
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