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Biomedical subjects

V Albanese

Publications and source records attributed to V Albanese.

At least 19 recordsLinked to original sources
PubMed2005

Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: a study of 24 patients.

BACKGROUND: Neurofibromatosis type 2 (NF2) is an autosomal dominant disease characterised by the development of multiple nervous system tumours, ocular abnormalities, and skin tumours. Although classically considered a disease of adults, initial signs and/or symptoms may be evident in childhood and are often unrecognised. OBJECTIVES: The aim of this study was to identify the earliest clinical presentations of NF2 and to characterise the clinical course and outcome in children with NF2. METHODS: We have performed a retrospective (years 1990-1998) and prospective (years 1998-2004) study of 24 patients (10 males, 14 females; currently aged 4 to 22 years) fulfilling the revised (Manchester) NF2 criteria seen at the Universities of Catania and Rome, Italy. RESULTS: Causes of referral prior to a definitive diagnosis of NF2 were: 1) Ophthalmologic problems: early onset lens opacities (n = 3); strabismus (n = 3) and amblyopia (n = 3) (due to underlying cranial nerves and/or brain tumours); 2) Otolaryngology problems: hearing loss and tinnitus (n = 2) in early teens disregarded or treated as ear infections; hoarse (n = 1) or bitonal (n = 1) voice; 3) Neurological dysfunction: seizures secondary to intracranial meningioma (n = 1) or vestibular schwannomas (VS) (n = 1), neurological dysfunction related to brainstem and/or spinal cord tumours (n = 7), isolated and multiple cranial nerve deficits (n = 10), and peripheral neuropathy secondary to schwannomas (n = 4); 4) Skin manifestations: schwannomas misdiagnosed as neurofibromas because of associated café-au-lait spots (n = 2); café-au-lait spots (n = 8) and skin tumours (n = 3). A family history was relevant in 20 % of the patients. Molecular genetic analysis of the NF2 gene revealed typical truncating mutations in all the 5 familial cases and in 2/10 sporadic cases analysed. CONCLUSIONS: Children with NF2 often first come to medical attention because of ocular, subtle skin, or neurological problems the significance of which is realised when they later present with more classical symptoms due to bilateral VS or other intracranial tumours. The clinical course at this young age is highly variable, depending on tumour burden, early surgical intervention, surgical outcome after tumour resection, and complications.

Adolescent↗
PubMed2005

Potential indications for somatostatin analogues: immune system and limphoproliferative disorders.

Among hormones and neuropeptides influencing the immune system, somatostatin seems to play a key role not only in inhibiting specific immune cell activities, but also in promoting selected functions of particular immune cell subsets. Indeed, controversial effects have been observed in experimental conditions where somatostatin seems to stimulate certain cell functions, such as secretion of specific products (immunoglobulin, cytokines), cell migration and adhesion to extracellular matrix components. However, interestingly, cortistatin (CST), a neuropeptide that strongly resembles somatostatin, from both the structural and functional points of view, seems to have potential roles in regulating immune responses, as well as other lymphoid cell functions. The unexpected wide distribution of CST in a number of human organs, but particularly in immune cells, points to a broader physiological role of CST than previously presumed. The actions of somatostatin and its synthetic analogs (SSA) are mediated by five membrane G protein-coupled receptors subtypes (SSTR1-5), displaying a tissue specific distribution. The majority of somatostatin-target tissues, including lymphoid tissues, may co-express multiple somatostatin receptor (SSTR). The number of SSTRs in lymphoid cells is significantly lower compared to neuroendocrine tissues. However, the presence of receptors allowed the localization by in vivo SSTR scintigraphy of lymphoproliferative disorders, as well as granulomatous and autoimmune diseases. In specific cases, this technique may contribute to establishing the diagnosis and staging the disease. Recent studies evaluating the specific and quantitative SSTR distribution in lymphoid organs and cells, in both normal conditions and immune disorders, have largely contributed to better understand the phenomenology of in vivo receptor imaging and also the involvement of the different SSTR in determining the uptake of radiolabeled SSAs. Moreover, since lymphomas are highly radiosensitive malignancies, a promising approach in refractory patients with malignant lymphomas may be represented by radionuclide-targeted therapy with radioactive-coupled SSAs combined with gene therapy. This latter technique seems effective in inducing the expression or increasing the number of given SSTR in order to ameliorate the impact of radionuclide-targeted therapy. Medical treatment of lymphoproliferative diseases with currently available synthetic analogs have produced unsatisfactory and conflicting results. This might be due to the affinity of the current available SSAs for specific SSTR. However, the synthesis of new compounds with distinct properties has reopened a challenge in this field. The application of receptor-based localization and anti-tumor strategies should also be taking into account the new knowledge recently emerged on the physiopathology of neuropeptide receptors: firstly, neuropeptide receptor homo- and heterodimerization, which may involve different subtypes of SSTRs, as well as other neuropetide receptors, and secondly, the role of endogenous SSTR ligands, such as CST.

Humans↗
PubMed2004

Neurological deterioration after head trauma in patients with colloid cysts of the 3rd ventricle. Two case histories.

The authors report 2 cases of colloid cyst of the 3(rd) ventricle (both patients previously asymptomatic) diagnosed after head trauma. Neurological deterioration due to biventricular hydrocephalus, rendering necessary an urgent bilateral CSF shunting, was observed. The possible relationship between clinical deterioration and head injury in these cases is discussed.

Adult↗
PubMed2003

Cryopreservation of autogeneous bone flap in cranial surgical practice: what is the future? A grade B and evidence level 4 meta-analytic study.

AIM: Autogenous bone flap adequately preserved can be used successfully for repair of iatrogenic cranial bone defects because of its biological and economic advantages. The commonly used techniques of bone preservation are freezing at temperature ranging from -16 to -40 inverted exclamation mark C or subcutaneous pocketing. METHODS: We searched on NLM database querying as subject headings "cranioplasty and autologous bone" and found 7 papers meeting our criteria. For every series we considered the frequency of bone resorption and infection and performed statistical analysis by means of contingency tables carrying out for the chi2 test according to Pearson and considering to be statistically significant p(chi2) <0.05 values. RESULTS: Compared series presented no statistically significant difference with regard to frequency of the complications (chi2=6.43 for critical value of 11.07 (k-1=5) (P>0.25) and chi2=5.48 for critical value of 7.81 (k-1=3) (P>0.10) respectively for infection and resorption. CONCLUSION: Although we did not find any significative difference among the frequencies of the complications of the series, it is our opinion that freezing the bone flap is preferable to abdominal pocketing because it needs no double surgical abdominal time and the bone flap frozen is stronger to mechanical loading than fresh flap. Cryopreservation of autologous bone flap should be the standard technique of preservation for delayed cranioplasty but a multicentric prospective trial is advisable to obtain in short time statistically significant results focusing better on the rate of marginal resorption of the bone flap using new cryoprotectant solutions.

Cryopreservation↗
PubMed2003

Nuchal fibrocartilaginous pseudomotor. Case report and review of the literature.

The case of a 30-year-old woman who, many years after a trauma to the neck, developed a hard tissue mass in the posterior midline at C5-C6 level is reported. The patient underwent surgical excision of the mass. Nucal fibrocartilaginous pseudotumor (NFP) was diagnosed. This is a very rare non-neoplastic lesion, probably arising throug a post-traumatic metaplasia of the nuchal ligament, and only 14 cases have been reported to date in the literature. The clinicopathologic and neuroradiologic features of NFP are described.

Adult↗
PubMed2003

Spinal meningeal mesenchymal chondrosarcoma. Report of a new case and review of the literature.

A case of T12-L2 intraspinal extradural meningeal mesenchymal chondrosarcoma is described in a patient presenting with a clinical history of low-back pain and weakness of the lower limbs. Magnetic resonance T1-weighted Gadolinium enhanced imaging, showed an intraspinal extradural mass, extending from T12 to L2, located anterolaterally into the spinal canal and pushing posteriorly the conus medullaris. The mass was completely removed and postoperative histological diagnosis was of mesenchymal chondrosarcoma. The patient was completely symptoms-free after surgery. Intraspinal meningeal mesenchymal chondrosarcoma and treatment options are reviewed.

Adult↗
PubMed2003

Transverse carpal ligament reconstruction with polyesterurethane patch for prevention of recurrence in therapy of failed primary carpal tunnel surgery.

A small group of patients with carpal tunnel syndrome (CTS) can present recurrences and persistent symptoms of CTS after its surgical release. If recurrence is due to scarring between median nerve and surrounding tissue (true recurrence of CTS, transverse carpal ligament [TCL] reconstruction with transposition flap technique is available but it presents poor results: This 48-year-old woman presented a recurrence of CTS 3 months after open standard incision. At operation, a scar was detected that did not permit normal median nerve gliding during wrist movements. External neurolysis restored normal gliding and non-absorbable polyesterurethane patch was used to reconstruct TCL. At 2-year follow-up the patient was in good health and returned to her manual usual job without pain and sensitive and motor deficits. Implantation of unresorbable poliesterurethane patch for TCL reconstruction after external neurolysis appears to be more advantageous than TCL reconstruction with transposition flap technique because it takes little time, causes minimal adhesion formation, does not need of wide incision and provides the same favourable conditions of the transposition flap as mechanical stabilization of the tranverse carpal arch, prevention of bowstringing of the flexor tendons, increase of postoperative grip strength and good protection of the median nerve. However, more cases should be studied before considering TCL reconstruction with poliesterurethane patch as a useful option in secondary surgery of true recurrence of CTS.

Carpal Tunnel Syndrome↗
PubMed2002

[Telangiectasias associated with reticular veins. Sclerotherapy or combined sclerotherapeutic and surgical approach?].

BACKGROUND: We compare the results obtained with sclerotherapy or combined surgical and sclerotherapic approach in two groups of patients, affected by reticular veins-related telangiectasias without incompetence of the saphenous systems or perforating veins. METHODS: 44 female patients were evaluated at our Institution. The first group (21 patients) was treated with sclerotherapy (polidocanol at a concentration of 1% for the reticular veins and 0.25% for the telangiectasias); the second group (23 patients) was treated with a combined approach (ambulatory phlebectomy according to Müller and sclerosis using polidocanol at a concentration of 0.25%). Six and twelve months after surgery or sclerotherapy, we evaluated the appearance of hyperpigmentation or telangiectatic matting, and the recurrence of the treated vessels. RESULTS: In the first group, the hyperpigmentations and the appearance of telangiectatic matting showed, after 6 months, an incidence rate of 14.3% after 12 months, a recurrence of the treated vessels was observed in 4 patients (19%). In the second group, the hyperpigmentations and the appearance of telangiectatic matting showed, after 6 months, an incidence rate of 4.3% at 12 month follow-up no recurrence of treated vessels was observed. CONCLUSIONS: The combined approach might be considered, in selected patients, a valid alternative to sclerotherapy in the treatment of reticular veins-related telangiectasias, particularly in preventing side effects such as hyperpigmentations and telangiectatic matting.

Adult↗
PubMed2002

Spinal intradural extramedullary tumors. Personal experience.

BACKGROUND: Spinal intradural extramedullary tumors account for 2/3 of all intraspinal neoplasms and are mainly represented by meningiomas and schwannomas, with the former accounting for the 25-46% of all primary intraspinal tumors. Technical advances in imaging technique, magnetic resonance imaging (MRI) and surgical procedures have brought about significant better clinical results in the last 2 decades. Neverthless a small percentage of patients still present poor postoperative outcome mainly related to the duration of clinical history, the severity of preoperative neurological deficits and to some specific anatomo-surgical aspects. METHODS: In an effort to clarify the influence of these factors on patient's outcome, the authors analyze the clinical, surgical and prognostic data of 41 patients with intradural extramedullary spinal tumor surgically treated between January 1990 and December 1999. The follow-up period ranged from 1 to 9 years. The clinical history until admission and treatment was 3-48 months for meningiomas and 1-72 months for schwannomas. RESULTS: Morbidity and mortality rate was 5 and 0% for meningiomas and 0 and 6% for schwannomas. Almost all the patients experienced a significant neurological improvement after surgery, with a percentage of Nurick's grade 1 and 2 of 68% among patients with meningiomas and 66% among patients with schwannomas. Removal of the tumor was complete in 90% of meningiomas and 94% of schwannomas. CONCLUSIONS: The authors address radical surgery as the ideal goal in these neoplasms, as it gives the patients the best long-terms results, pointing out the importance of systematic early identification of any main radiculomedullary artery during debulking and dissection of the tumor to avoid any risk of severe postoperative neurological worsening of the patients.

Adult↗
PubMed2002

Trigeminal palsy caused by triventricular hydrocephalus. A case report.

A case of left trigeminal palsy caused by triventricular hydrocephalus and completely recovered after ventriculo peritoneal shunt is reported. The case was studied by MR before and after the operation. Preoperative MR showed triventricular hydrocephalus with marked reduction of the left Meckel's cave. Following ventriculo peritoneal shunt the patient showed a complete recovery of the left 5th nerve palsy and NR showed the expansion of the left Meckel's cave. The authors suggest that the trigeminal palsy was due to intracranial hypertension probably associated to a weakness of the lateral wall of the left Meckel's cave. No similar case have been previously reported in the literature.

Adult↗
PubMed2002

Oculomotor palsy and supraclinoid internal carotid artery aneurysms. Personal experience and review of the literature.

Oculomotor palsy related to the presence of an intracranial aneurysm arising from the supraclinoid internal carotid artery (ICA) is a well known and described clinical condition. Recent microanatomical and clinical evidences seem to demonstrate that the pathophysiology of the aneurysm-related III nerve palsy could be interpreted as that of any other cranial nerve's neurovascular compression syndrome. The authors review their personal experience with supraclinoid ICA aneurysms related to oculomotor palsy and the data of the literature, aiming to elucidate a better clinical, therapeutic and prognostic correlation to these factors.

Adult↗
PubMed2002

Symptomatic subdural hygroma after petroclival meningioma surgery. Case report of a intractable complication.

Although subdural hygroma development after craniotomy or aneurysm surgery is a well-known complication and subdural peritoneal or V-P shunt are commonly successful procedures, there are situations that cannot be treated by available surgical options. We reported a case of a 28-year-old young man who developed a symptomatic subdural hygroma after removal of petroclival meningioma. This hygroma increased in size and became bilateral in spite of implantation of V-P with programmable valve at open pressure variable from 30 to 180 mmH2O, placement of subdural-peritoneal shunt with low-low valve or without valve and external diversion. The occurrence of this case showed that there other factors can play role in hygroma development as disturbance of normal CSF dynamic with shunt of CSF from basal arachnoidal to subdural spaces secondary to surgery and/or slow growth of petroclival meningioma as well as postoperative progressive cerebral atrophy. Actually there are not effective diagnostic tools to detect causes and therefore, there are restricted therapeutic possibilities. This potential and serious complication should be always considered when planning petroclival meningioma surgery because of the severe consequences on functional outcome.

Adult↗
PubMed2001

Similarities between spinocerebellar ataxia type 7 (SCA7) cell models and human brain: proteins recruited in inclusions and activation of caspase-3.

Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant polyglutamine disorder presenting with progressive cerebellar ataxia and blindness. The molecular mechanisms underlying the selective neuronal death typical of SCA7 are unknown. We have established SCA7 cell culture models in HEK293 and SH-SY5Y cells, in order to analyse the effects of overexpression of the mutant ataxin-7 protein. The cells readily formed anti-ataxin-7 positive, fibrillar inclusions and small, nuclear electron dense structures. We have compared the inclusions in cells expressing mutant ataxin-7 and in human SCA7 brain tissue. There were consistent signs of ongoing abnormal protein folding, including the recruitment of heat-shock proteins and proteasome subunits. Occasionally, sequestered transcription factors were found. Activated caspase-3 was recruited into the inclusions in both the cell models and human SCA7 brain and its expression was upregulated in cortical neurones, suggesting that it may play a role in the disease process. Finally, on the ultrastructural level, there were signs of autophagy and nuclear indentations, indicative of a major stress response in cells expressing mutant ataxin-7.

Adult↗
PubMed2001

Meningioma within the cisterna magna without dural attachment. Case report.

A case of meningioma within the cisterna magna without dural attachment is reported. Meningiomas of the posterior fossa without dural attachment are very rare and have been classified in to: 1) intraventricular meningiomas; 2) meningiomas of the tela chorioidea; 3) meningiomas within the cisterna magna. Only two cases of meningiomas within the cisterna magna without dural attachment have been reported, one in 1923 and another in 1938. The case now reported was studied by angiography and magnetic resonance and operated with microsurgical technique. We describe neuroradiological and operative findings of this exceptional meningioma within the cisterna magna without dural attachment.

Cerebral Angiography↗
PubMed2000

Correlation between histological grade, MIB-1, p53, and recurrence in 69 completely resected primary intracranial meningiomas with a 6 year mean follow-up.

Sixty-nine intracranial, totally excised meningiomas were immunostained for MIB-1 and p53 protein expression. According to the 1993 WHO criteria, revised by Perry et al., the 69 meningiomas were classified into: grade I = 54 benign meningiomas, grade II = 10 atypical meningiomas, grade III = 5 malignant meningiomas. The patients were followed until death or for an average of 6.7 years. The 69 meningiomas were divided into two groups, according to the absence (n = 42) or presence (n = 27) of recurrences. In the last group we included 3 patients who died of meningioma recurrence. According to the percentage of MIB-1 positively stained cells, meningiomas were divided into three groups: <1% (n = 36), 1-10% (n = 28), >10% (n = 5). We found the MIB-1 labeling index (LI) <1% in 33 grade I (61%) and in 3 grade II (30%) meningiomas. On the other hand, 7 grade II (70%) and all grade III (100%) meningiomas presented a MIB-1 LI >1%. Correlation between histological grade and MIB-1 LI was statistically significant (p = 0.0006). The correlation between MIB-1 LI and follow-up was also highly significant (p < 0.001): the majority of meningiomas which did not recur (32/42 equal to 76%) were characterized by a low (<1%) MIB-1 LI. In the recurrence group MIB-1 LI was significantly higher than in the disease-free patients' group. Moreover, MIB-1 appeared to be a prognostic parameter not strongly related to the histological grade. In fact, it was significantly higher in recurrent histologically benign meningiomas, as compared with benign meningiomas without recurrence (p = 0.0006). Positive p53 protein expression (>1%) was shown in 26/45 meningiomas (57%), with an LI of 1-10% in 18 (40%) and an LI of >10% in 8 (17%) meningiomas. Although the p53 LI tended to be higher in atypical and malignant meningiomas, no significant correlation was found between the p53 expression and the recurrence (p = 0.05). The authors conclude that quantitative MIB-1 labeling is a useful technique in the routine diagnostic assessment of meningiomas, and helpful in obtaining more information about prognosis and thereby in planning the most suitable treatment.

Adult↗
PubMed1998

CAG/CTG and CGG/GCC repeats in human brain reference cDNAs: outcome in searching for new dynamic mutations.

CAG and CGG expansion is associated with 10 inherited neurological diseases and is thought to be involved in other human genetic diseases. To identify new candidate genes, we have undertaken a large-scale screening project for CAG/CTG ([CAG]n) and CGG/GCC ([CGG]n) repeats in human brain reference cDNAs. Here, we present the final classification for 597 cDNAs selected by CAG and CGG hybridization from two libraries (100,128 clones) and the updated characterization of [CAG]n- and [CGG]n-positive cDNAs (repeat polymorphism and cDNA localization). We have selected 124 CAG and 83 CGG hybridization-positive clones representing new genes, from which 49 CAG and 7 CGG repeats could be identified. New [CAG]n and [CGG]n with more than seven to nine units were rare (1/2000), and perfect [CAG]n 9 were more likely polymorphic. Overall, highly polymorphic to monomorphic new [CAG]n > 9 and [CGG]n > 7 were characterized. The comparison of our data with other [CAG]n and [CGG]n resources suggests that the screening of reference cDNAs leads to unique sources of new [CAG]n and [CGG]n and will enhance the study of enlarged triplet repeats in human genetic diseases.

Brain↗
PubMed1998

Diverging projections of the C2 and D2 olivocorticonuclear cerebellar pathways of the rat.

A divergent mediolateral projection to the cerebellar nuclei of the C2 and the D2 olivocorticonuclear cerebellar pathways was found after segregate injections of a tracer (either WGA-HRP or FR or BDA) in the rostral (D2 area) or caudal side (C2 area) of the rat paraflocculus. The C2 olivary area of the cerebellar cortex sends most of its nuclear projection to the nucleus interpositus posterior (classically perceived as the nuclear target of the C2 olivocorticocerebellar pathway) and a smaller contingent of fibres to the parvocellular region of the nucleus lateralis (classically perceived as the nuclear target of the D2 olivocorticocerebellar pathway). The D2 olivary area of the cerebellar cortex sends most of its nuclear projection to the parvocellular region of the nucleus lateralis (classically perceived as the nuclear target of the D2 olivocorticocerebellar pathway) and a smaller contingent of fibres to the magnocellular region of the nucleus lateralis (classically perceived as the nuclear target of the D1 olivocorticocerebellar pathway). The lateral interaction of the D2 and the C2 olivocerebellar pathways could represent the anatomical substrate for the functional integration of different olivocerebellar compartments.

Animals↗