Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004135 (ATM)
 13,001 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

During the five years running from December 1993 to January 1998, 112 patients who had come to our University Clinic suffering from headache were examined. From this group 71 complaining of tinnitus during headache were recruited for the study: 19 patients suffered from migraine without aura, 8 migraine with aura, 15 tension headache, 21 mixed headache, 3 basic migraine and 5 cluster headache. The purpose of this work was to determine the incidence and to identify the frequency of the various types of tinnitus in the study sample. Once cardiovascular and metabolic pathologies, previous cranial or cervical traumas, barotrauma, chronic on-the-job noise exposure, cervical arthritis, ATM malocclusion, use of drugs that damage the hearing apparatus, morbose processes of the external and middle ear, otosclerosis, jugular tympanum paraganglioma, Meniere's disease, acoustic neurinoma were all ruled out, the patients underwent the following battery of instrumental tests: tonal audiometry, impedance measurement, vestibular examination, electronystagmography, ABR, simplified tinnitometry. Only those patients with normal hearing underwent the tinnitometry and, therefore, the type of tinnitus was established only for this group of 53 patients. Tinnitometry showed that 37% of these subjects had tinnitus at the higher frequency tones, 11% at the middle frequencies, 29% complained of tinnitus at the lower frequencies while 23% complained that the bothersome buzzing was a compound noise. In addition, the subjective intensity of the tinnitus was analyzed. The authors devised a tinnitus irritation scale covering a range from 0 (not irritating) to 10 (intolerable). The tinnitus was bilateral in 66% of the cases while it was limited to only one ear in the remaining 34%. In 15% of the cases tinnitus was present even when there was no headache. In the literature, the etiopathogenesis of tinnitus associated with migraine headache has been attributed to vascular and neuropeptide mechanisms. Even the psychological component appears to play a role in triggering the event. These hypotheses deserve more in depth study.
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PMID:[Tinnitus during headache: clinical-instrumental evaluation]. 1043 37

Spinal schwannoma is the most common primary spinal tumor but its genomic landscape and underlying mechanism driving its initiation remain elusive. The aim of the present study was to gain further insights into the molecular mechanisms of this kind of tumor through whole genome sequencing of nine spinal schwannomas and paired blood samples. The results showed that ATM, CHD4, FAT1, KMT2D, MED12, NF2, and SUFU were the most frequently mutated cancer-related genes. In addition, the somatic copy number alterations (CNA) was potentially associated with spinal schwannoma, among which NF2 was found to be frequently deleted in schwannoma samples. Only a few genes were located within the amplified regions. In contrast, the deleted regions in 15q15.1 and 7q36.1 contained most of these genes. With respect to tumorigenesis, NF2 had the highest variant allele frequency (VAF) than other genes, and homozygous deletion was observed in NF1, NF2, and CDKN2C. Pathway-level analysis suggested that Hippo signaling pathway may be a critical pathway controlling the initiation of spinal schwannoma. Collectively, this systematic analysis of DNA sequencing data revealed that some key genes including NF1, NF2, and CDKN2C and Hippo signaling pathway were associated with spinal schwannoma, which may help improve our understanding about the genomic landscape of spinal schwannoma.
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PMID:Whole Genome Sequencing Identifies Key Genes in Spinal Schwannoma. 3319 98