Vestibular schwannoma: care for soft tissues and subperineural dissection: how I do it.

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.

Extended Endoscopic Endonasal Approach for Suprasellar Craniopharyngioma.

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 .

Mutations in the lamin B1 gene are not present in multiple sclerosis.

BACKGROUND: Whole gene duplication of the lamin B1 gene (LMNB1), encoding for a protein of the nuclear lamina, causes an adult-onset autosomal dominant leukodystrophy (ADLD). Clinical features of ADLD (onset in adult life, dysautonomic symptoms, followed by pyramidal and cerebellar dysfunctions) partially resemble those of multiple sclerosis (MS), particularly the primary-progressive form. Our aim was to test whether LMNB1 gene mutations were present amongst patients with a diagnosis of MS. METHODS: One hundred eighty-two MS patients were screened for copy number variations of the LMNB1 gene using a qPCR assay. Point mutations in the LMNB1 gene were searched by denaturing high-performance liquid chromatography and direct sequencing in a subgroup of 16 patients with familial MS. RESULTS: No duplication/deletion of the lamin B1 gene was found amongst MS patients, and no point mutation was identified in the familial cases. CONCLUSION: Our work indicates that lamin B1 defects are probably not responsible for signs and symptoms resembling multiple sclerosis.

TSC1 and TSC2 deletions differ in size, preference for recombinatorial sequences, and location within the gene.

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.

Frequency of skin cancer and other ultraviolet radiation provoked skin lesions of eyelid and periocular region in the 1981-1992 period.

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.

Restriction of the T-cell receptor V delta gene repertoire is due to preferential rearrangement and is independent of antigen selection.

To determine whether the limited V gene usage by the T-cell receptor delta (TCRD) chain is dictated by preferential rearrangement or by antigen selection, we characterized and compared the TCRDV gene repertoire of the productive with that of the unproductive allele in 80 human TCRG/TCRD clones. Six different V genes were found on the expressed allele; two of them, provisionally named DV7 and DV8, have not been described before on the surface of TCRG/TCRD T cells. Overall, six V genes and six non-V elements were isolated from the unproductive allele. Interestingly, the same set of genes was rearranged both in the productive and in the unproductive chromosome. These findings seem to suggest that antigen-independent mechanisms play a major role in the restriction of the TCRDV gene repertoire.

Relationship between body weight and blood pressure and some metabolic parameters in psoriatic patients.

The relationship between body weight and blood pressure, total serum cholesterol, triglycerides, uric acid and glucose was investigated in 203 psoriatic patients in comparison with 904 healthy controls. In the psoriatic patients, these parameters were clearly related to their body weight. Those psoriatic patients of normal weight exhibited lower mean values of all the parameters compared with overweight psoriatic patients while they did not differ from control subjects of normal weight. Our results suggest that only overweight psoriatic patients exhibit the metabolic abnormalities frequently reported in the literature, while psoriatic patients of normal weight do not differ from the general population in this respect.

Red blood cell sodium and potassium fluxes in psoriatic patients.

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.