594 research outputs found
Could the life of admiral Nelson in Trafalgar be saved?
The Authors, after carrying out an historical reconstruction of the war and socio-political events inherent to the Battle of Trafalgar which took place on 21 October 1805, focus and place the emphasis on the physiopathological events that led to the death of Admiral Nelson. They highlight the probable trau-matic injuries he suffered and subsequent development of the morbid mass determining an example of ex post reconstruction with profiles of forensic medicine and history of medi-cine, definitely interesting and original
Advisory Service Marketing Profiles for Corn in 2001
Agricultural Finance,
E-ABR in patients with cochlear implant: A comparison between patients with malformed cochlea and normal cochlea
OBJECTIVES: This study aims to compare the electrical auditory brainstem response (EABR) following cochlear implant (CI) surgery in pediatric subjects with cochlear malformation and a normal cochlea, in order to assess the sensitivity of EABR and to evaluate the surgery outcome. MATERIALS and METHODS: A total of 26 pediatric subjects who were deaf and scheduled for CI surgery were enrolled into this case control study. Group A (n=20) included subjects with a normo-conformed cochlea. Group B (n=6) included subjects with cochlear malformation. Subjects were evaluated with EABR immediately (T0) and 6 months (T1) post-CI surgery. The EABR Waves III and V average amplitude and latency were compared across time, separately for each group, and across groups, separately for each time. RESULTS: Auditory brainstem response (ABR) could only be recorded in Group A. We were able to record EABR from all subjects at T0 and T1, and waves III and V were present in all the recorded signals. There were no statistically significant differences between T0 and T1 in EABR Waves III and V in terms of average amplitude and latency in neither group. When comparing Groups A and B, the only statistically significant difference was the average amplitude of wave V, both at T0 and T1. CONCLUSION: EABR is a valid tool to measure the auditory nerve integrity after CI surgery in patients with a normal and malformed cochlea, as shown by its ability to measure waves III and V when ABR is absent. The EABR testing should be performed before and after CI surgery, and EABR should be used as a measure of outcome, especially in patients with a malformed cochlea
Neuropatia uditiva: incidenza e caratteristiche cliniche in neonati a rischio
INTRODUZIONE La neuropatia uditiva (NU), entità nosografica di recente individuazione, costituisce
un’importante causa di ipoacusia di grado variabile dal lieve al severo, ad insorgenza sia nella primissima
infanzia che nell’età giovanile, raramente nell’anziano. È riconducibile ad alterazioni di alcune componenti
della via uditiva, tra cui le cellule cocleari ciliate interne (le esterne sono caratteristicamente risparmiate), le
loro sinapsi con le fibre afferenti del nervo acustico o il nervo acustico stesso. L’eziologia, fatta eccezione
per le forme riconducibili a mutazioni del gene OTOF (codificante per l’otoferlina, una proteina espressa
dalle cellule ciliate interne cocleari), è stata posta in relazione con differenti fattori di rischio. In particolare,
diversi studi hanno evidenziato una maggiore incidenza di NU tra i neonati ricoverati in UTIN o esposti, in
epoca perinatale, a particolari condizioni quali iperbilirubinemia, anossia, patologie infettive, farmaci
~ 239 ~
ototossici. MATERIALI E METODI Dato il caratteristico profilo audiologico la diagnosi necessita della
registrazione contemporanea delle OAEs (presenti in quanto integre le cellule ciliate esterne) e delle
risposte ABR che risultano alterate, desincronizzate o addirittura irriconoscibili. Si rileva anche l’assenza del
riflesso stapediale, sia ipsi che controlateralmente. RISULTATI Il nostro studio ha rilevato, in un campione di
110 bambini ricoverati in UTIN per un periodo > 5 giorni, 15 soggetti con deficit uditivo, tra i quali sono stati
individuati 4 casi (26,6%) con profilo audiologico compatibile con diagnosi di NU.Gli autori descrivono le
caratteristiche audiologiche ed eziologiche legate a suddetti pazienti paragonando l’incidenza della
neuropatia uditiva in UTIN, il grado della sordità , la mono-bilateralità , i fattori di rischio e l’iter riabilitativo
più idoneo con i dati riportati in letteratura. CONCLUSIONI La neuropatia uditiva, essendo causa di
ipoacusia, può compromettere lo sviluppo del linguaggio e necessita di una diagnosi tempestiva per poter
adottare le opportune misure riabilitative. In considerazione della necessità di esecuzione contemporanea
di OAEs e dell’ABR ai fini di una corretta diagnosi, oltre che dei costi associati a quest’ultima metodica si
raccomanda la valutazione dei potenziali evocati uditivi nei neonati ricoverati in UTIN e nei soggetti esposti
a fattori di rischio più frequentemente associati a NU
TYPE AND COUNTER-TYPE FROM SPECIFIC CHROMOSOMAL REGIONS
Several studies have shown the importance of segmental deletions/duplications in the field of chromosome pathologies. Non allelic homologous recombination, NAHR, between chromosomes or sister chromatids, mediated by segmental duplications, is the foundation of frequent mechanisms for structural chromosome mutations such as micro-deletions, micro-duplications, translocations, inversions, and marker chromosomes. We analyzed three distinct genomic regions (22q11.2, 17p11.2, 16p11.2) and we discussed how the same chromosome region can be affected by deletion or by reciprocal duplication, respectively responsible for a syndrome or for a reciprocal counter-syndrome, with different phenotypic manifestation
COPY NUMBER VARIATIONS IN THE ETIOLOGY OF EPILEPSY
Epilepsy is one of the most common neurological disorders in humans with a prevalence of 1% and a lifetime incidence of 3%. Idiopathic epilepsies occur in the absence of identifiable causal factors, but recent evidences show the role of genetic factors in the developing of these disorders. In particular, several studies focused their attention on the role of copy number variations (CNVs) in the etiology of epilepsy.
In recent years, many CNVs have been identified, like 15q11.2, 15q13.3 and 16p13.11 microdeletions, 22q11.2 microduplication and many others. Possible candidate genes included in these regions were also studied and they seem to be involved in neuronal transmission and ion transport.
The possibility to identify new rare CNVs allow a greater understanding of the mechanisms of epilepsy and other neurodevelopmental disorders
- …