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1.
Acta Neurochir (Wien) ; 163(8): 2247-2251, 2021 08.
Artículo en Inglés | MEDLINE | ID: mdl-33704585

RESUMEN

BACKGROUND: Recognition of the right surgical cleavage plane of a vestibular schwannoma is mandatory to preserve the facial nerve function. METHOD: We describe here our surgical technique that is focused on soft tissues preservation and on subperineural dissection, avoiding direct exposure of the acoustico-facial complex in order to preserve facial nerve function. CONCLUSION: Soft tissue dissection helps in reducing patient's postoperative discomfort. Meticulously keeping a subperineural plan of dissection enables to preserve facial nerve function while offering satisfying resection rates.


Asunto(s)
Neuroma Acústico , Disección , Nervio Facial/cirugía , Humanos , Neuroma Acústico/cirugía , Complicaciones Posoperatorias , Periodo Posoperatorio
2.
J Neurol Surg B Skull Base ; 79(2): S196-S198, 2018 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-29404249

RESUMEN

Objectives We illustrate a suprasellar craniopharyngiomas treated with an extended endoscopic endonasal approach (EEEA). Design Case report of a 43-year-old male affected by cerebral lesion located in suprasellar region involving the third ventricle and compressing the neurovascular structures, causing an anterosuperior dislocation of the chiasma. There is a complete disruption of the pituitary stalk that can explain the clinical finding of partial anterior hypopituitarism and hyperprolactinemia. The lesion is characterized by a solid and cystic component. Considering the absence of lateral extension and the suprasellar location of the lesion, an EEEA is preferred. Setting University Hospital "Ospedale di Circolo," Department of Neurosurgery, Varese, Italy. Participants Neurosurgical and ENT Skull Base Team. Main Outcome Measures A bilateral parasagittal approach is performed using a four-hand technique. The first step of the surgery is the preparation of the Hadad's flap. The approach is extended to the planum sphenoidalis to expose the suprasellar region. The lesion is completely removed employing also an ultrasound aspirator. Skull base reconstruction is performed with three-layer technique: graft of fat tissue, fascia lata, and nasoseptal flap. Results No postoperative complications occurred. In the post-op, the patient presents a panhypopituitarism and an improvement in neurological status. The visual deficit remains stable. Post-op magnetic resonance imaging at 1 year documents the complete absence of pathological contrast enhancement. Conclusions EEEA is a feasible approach in treating craniopharyngioma with suprasellar extension. The advantages include optimal visualization, good resection rate, and absence of brain retraction. The link to the video can be found at: https://youtu.be/IYm-8P1jbBo .

3.
Hum Genet ; 108(2): 156-66, 2001 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-11281455

RESUMEN

Large TSC gene rearrangements are not rare findings in tuberous sclerosis. Interestingly, all deletions, duplications and inversions so far described involve TSC2, none being associated with TSC1. In order to shed light on the structural basis of the preferential DNA rearrangements in TSC2 over TSC1 and to assess, in an unselected patient population, the prevalence of large re-arrangements in both TSC loci, we screened 202 tuberous sclerosis patients consecutively referred at our center. Southern blot analysis on EcoRI+HindIII double-digested DNA identified 19 partial or full-length gene deletions: three involved TSC1 and sixteen TSC2. The breakpoint sequence of seven internal deletions, three in TSC1 and four in TSC2, allowed us to speculate on the mechanism favoring TSC2 unequal recombinations and to identify a deletion hot spot that lies in TSC1 and that may be relevant in the routine genetic testing of tuberous sclerosis. Briefly, three major features appear to distinguish TSC1 from TSC2 deletions: (1) deletion size: all TSC1 deletions are within the transcriptional unit, whereas 12 of the 16 TSC2 deletions have at least one external breakpoint; (2) location within the gene: all TSC1 deletions are confined to the 3'end of the gene (all three 5' breakpoints being located in intron 20) thus resulting in the same frameshift mutation following amino acid K875, whereas the TSC2 internal breakpoints appear to be scattered along the gene; (3) preference for recombinatorial sequences: six out of eight internal TSC2 breakpoints map within Alu repeats, whereas none of the three TSC1 deletions appear to be Alu-mediated. Indeed, in the latter gene, unique structural features (a purine-rich tract flanked by pyrimidine-rich segments) surrounding one of the two identified breakpoint cluster regions might play a role in promoting inappropriate recombinations.


Asunto(s)
Eliminación de Gen , Proteínas/genética , Recombinación Genética , Proteínas Represoras/genética , Secuencia de Bases , Southern Blotting , ADN , Electroforesis en Gel de Campo Pulsado , Humanos , Datos de Secuencia Molecular , Mutación , Mapeo Restrictivo , Proteína 1 del Complejo de la Esclerosis Tuberosa , Proteína 2 del Complejo de la Esclerosis Tuberosa , Proteínas Supresoras de Tumor
4.
Acta Med Croatica ; 50(1): 29-32, 1996.
Artículo en Inglés | MEDLINE | ID: mdl-8776113

RESUMEN

It is well known that the region of eyelids and periocular skin is exposed to ultraviolet radiation (UV rays), so it is the location of skin changes associated with the effects of this radiation. The analysis of basal cell carcinomas, keratoses, keratoacanthomas and cornu cutaneum of this regions covered a 12-year period. In the total of 1,398 skin biopsies from the Department of Ophthalmology, Sestre Milosrdnice University Hospital from Zagreb, the above mentioned lesions were found in 498 cases. Most frequent were basal cell carcinomas (BCC), found in 377 cases, followed by squamous cell carcinoma (SCC) in 64, keratoses in 37, cornu cutaneum in 8 and keratoacanthoma in 12 cases. As BCC was the most frequent finding in the bioptic material from this clinic, special emphasis was put on this tumor, its age and sex distribution, and localization. In the discussion and material analysis, particular reference is given to the causative relation with the effects of UV radiation. As a special contribution to the discussion on the connection of these changes with UV radiation, 3 cases with the occurrence of BCC and seborrheic keratoses in the same lesion and a patient with senile elastosis and BCC in the same segment of the skin of an eyelid are described.


Asunto(s)
Neoplasias de los Párpados/epidemiología , Neoplasias Faciales/epidemiología , Neoplasias Inducidas por Radiación/epidemiología , Rayos Ultravioleta/efectos adversos , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Carcinoma Basocelular/epidemiología , Carcinoma de Células Escamosas/epidemiología , Croacia/epidemiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Prevalencia , Estudios Retrospectivos , Enfermedades de la Piel/epidemiología
5.
Eur J Clin Invest ; 18(1): 47-51, 1988 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-2835244

RESUMEN

Psoriasis might be a widespread membrane disorder. Therefore, the red blood cell sodium, potassium and lithium outward fluxes (through Na-K-ATPase, Na-K-Cl co-transport, Li-Na countertransport and passive permeability), as well as the Na and K content, were studied in 31 psoriatic patients and 23 normal controls. A significant increase in intracellular potassium content, in the maximal velocity of the Na-K ATPase and of Na-K-Cl co-transport as well as in the outward passive permeability for Na were found in the psoriatic patients compared with controls. On the contrary, no differences were observed in sodium content, Li-Na countertransport and passive potassium permeability between the two groups. These results are compatible with a selective increase in inward, as well as outward, membrane permeability to sodium, which is compensated for by increased activity of the Na-K pump, and of the outward Na-K-Cl cotransport with a secondarily increased erythrocyte potassium content. They indicate that the red blood cell might be a useful model for the study of membrane transport in psoriatics.


Asunto(s)
Eritrocitos/metabolismo , Potasio/sangre , Psoriasis/sangre , Sodio/sangre , Adulto , Anciano , Transporte Biológico Activo , Bumetanida/farmacología , Cloruros/sangre , Cloruros/farmacocinética , Eritrocitos/análisis , Femenino , Humanos , Litio/sangre , Litio/farmacocinética , Masculino , Persona de Mediana Edad , Ouabaína/farmacología , Potasio/farmacocinética , Psoriasis/metabolismo , Sodio/farmacocinética , ATPasa Intercambiadora de Sodio-Potasio/metabolismo
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