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  • ISSN: 2379-948X
    Volume 2, Issue 2
    Case Report
    Francesco Comacchio*, Vera Markova, Daria Accordi, Francesca Covizzi and Paola Magnavita
    Abstract: Primary spontaneous down-beat nystagmus (PDBN) is characterized by slow upward ocular drifts and fast downward phases, and is the most common form of acquired ocular movements overcoming fixation. PDBN is essentially due to lesions at the cranio-cervical junction, or diseases of the lower brainstem and cerebellum. Intoxication due to lithium or anti-epileptic drugs, abuse of toluene, and metabolic disturbances such vitamin B1, B12 deficiency, have also been reported. Hypomagnesemia has rarely been reported as another possible cause of PDBN. We report here a case of reversible high-intensity PDBN, due to severe hypomagnesaemia with ataxia, objective vertigo and oscillopsia, although initial cerebellar MR imaging was normal. Monitoring of nystagmus according to magnesemia is reported and discussed.
    Daniela de Carvalho Tasso1*, Bárbara Lucia Azevedo L. A. da Silva2, TammyFumiko M. Takara2, Edi Lúcia Sartorato3, Guilherme Machado de Carvalho4, Brazílio de Carvalho Tasso2 and Carlos Eduardo Leite Arieta5
    Abstract:
    Introduction: Usher Syndrome is a rare syndrome caused by an autosomal recessive genetic disorder and is the most common cause of blindness and deafness combined, representing more than 50% of cases.
    Objective: This article aims to review the literature on Usher syndrome along with the presentation of a clinical picture.
    Methods: Review of the medical literature in PubMed and SciELO / Lilacs, using the MeSH terms:"Usher syndrome", "genetic hearing loss" and "retinitis pigmentosa".
    Case report: A case presents a 37-year-old woman patient detected with Usher syndrome. She reported hearing and visual loss since childhood. The onset was with nyctalopia evolving to peripheral field deprivation in both eyes a few years ago. She underwent ophthalmologic examination with dynamic refraction, ocular applanation tonometry,retinography, fluoresce in angiography and computerized visual field, the electroretinography was requested but was not available in the service. Eye fundus biomicroscopy revealed mild temporal pallor of the optic disk, diffuse retinalblood vessel narrowing, retinal sparse hyperpigmentation. The patient uses hearing aids (HA) since adolescence and a audiometric test was performed good adaptation. No alterations were found in the search for mutations in the GJB2 gene and mitochondrial mutations A155G.
    Discussion: The diagnosis of Usher syndrome is difficult and genetic testing can support this evaluation. We believe that its early diagnosis can bring several benefits, as genetic counseling and better rehabilitation, reducing the damage caused by this syndrome, which has no direct treatment. Unfortunately there is no cure for the disease.
    Conclusion: This syndrome should be considered as a differential diagnosis in patients who have combined loss of visual acuity and hearing.
    Research Article
    Vihas Patel1,5*, Xiaoxia Liu2, Danielle Margalit3, Robert Haddad4,5 and Guilherme Rabinowits4,5
    Abstract:
    Aim: Percutaneous endoscopic gastrostomy (PEG) use in head and neck cancer (HNC) patients undergoing surgery followed by adjuvant or definitive concurrent chemo radiation therapy (AD-CRT) is controversial due to concerns of tube-related complications including long-term dependence. We sought to determine the predictors of PEG dependency at 6 months and 1 year in HNC patients undergoing multimodality therapy (MT).
    Methods: Retrospective cohort study, 2005-2011
    Results: PEG was considered early if inserted prior to or within 2 weeks of radiation therapy (RT) initiation. The 223 (87%) patients who received early PEG were younger (57.3 versus 61.6 years) and had a higher body mass index (27.2 versus 25.3 kg/m2). Both groups were comparable in terms of tobacco and alcohol exposure and disease stage. Oral cavity tumors as well as oncologic resection were more commonly seen in the late PEG group. After adjusting for covariates, early PEG was associated with a lower PEG dependency rate (OR 3.5 [95% CI 1.3, 9.3]) and overall infection rate (OR 5.7 [95% CI, 1.7 to 19.1]).
    Conclusions: We found that early PEG in HNC patients undergoing MT was associated with decreased PEG dependency and overall infection rates. These findings need to be confirmed prospectively.
    Perspective
    Johnny Cappiello*
    Routine identification of the recurrent laryngeal nerve (RLN) with or without intraoperative neuromonitoring (IONM) has decreased the rates of temporary or permanent palsy, ranging from 6 to 1 % of cases in more experienced centers, in which trained surgeons perform more than 100 procedures per year, out of these criteria the percentage of neural injuries exceed 10%, particularly in reoperative cases.
    Review Article
    Skrivan Jiri1*, Zverina Eduard2, Kluh Jan2, Plzak Jan2, Padr Radek3 and Chovanec Martin2
    Abstract: Tympanojugular paragangliomas are benign and slow growing lesions of the lateral skull base. Due to their locality and vascularity, they represent a surgical challenge. Treatment modalities include preoperative embolization of feeding vessels and a tumour mass, then surgical removal and irradiation. In our group, 19 patients with large tympanojugular paragangliomas have been operated on in the period of the last 10 years. Surgical removal was achieved in 63% of cases, in the rest of patients the tumour remnants were either irradiated or left without any treatment in a wait-end-rescan approach. According to the benign character of the tumour, removal is not always the highest goal, since this may be accompanied by a high degree of a postoperative morbidity.
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