PubMed Health⌕ Search

Biomedical subjects

F Tortora

Publications and source records attributed to F Tortora.

10 recordsLinked to original sources
PubMed2006

Endocrine dysfunction in patients with Fabry disease.

BACKGROUND: Fabry disease (FD) is a genetic disorder caused by lysosomal alpha-galactosidase-A deficiency and is characterized by the systemic accumulation of globotriaosylceramide. All endocrine glands are susceptible to globotriaosylceramide accumulation because of their high vascularization and low cellular proliferation rate. Nevertheless, this endocrine system has never been investigated in detail. OBJECTIVE: We aimed to investigate the function and morphology of the endocrine glands in FD. PATIENTS: The thyroid, gonadal, adrenal, and GH/IGF-I axes were evaluated in 18 FD patients (nine females and nine males, aged 21-64 yr) and 18 sex- and age-matched healthy subjects. STUDY DESIGN: We conducted an observational, analytical, open, prospective study. INTERVENTIONS: Ten of the 18 patients received enzyme replacement therapy (ERT) with recombinant human alpha-galactosidase-A (agalsidase beta) at a dose of 1 mg/kg body weight every 2 wk. RESULTS: FD patients had higher baseline TSH levels than controls (P < 0.01). Three subjects were diagnosed with an early stage of subclinical primary hypothyroidism associated with negative antithyroid antibodies. A history of menses abnormalities, miscarriage, or assisted delivery was found in 89% of FD women. Asthenozoospermia, oligozoospermia, or both were found in all FD men through seminal fluid analysis. FD patients had significantly higher circulating ACTH and lower cortisol levels than controls (P < 0.05). In patients under ERT, a suboptimal cortisol response to the 250-microg ACTH test was found in 10%, and the ACTH-stimulated cortisol peak was significantly correlated to the health status profile (P < 0.05). CONCLUSION: A variety of latent endocrine dysfunctions, including life-threatening conditions, occur in patients with FD. Endocrine dysfunctions are also present in patients already receiving ERT and are in part related to their persistent poor quality of life. An endocrine work-up should be recommended in all FD patients. Adequate monitoring and hormonal therapy, when required, have to be performed in cases of subclinical endocrine dysfunction to avoid life-threatening events.

Adrenal Gland Diseases↗
PubMed2006

Aggressive eosinophilic granuloma of the parietal bone. An immunohystochemical study of Ki-67 expression.

Solitary eosinophilic granuloma (EG) of the skull is a rare lesion, the natural history of which is still to be defined. We report a case of a 26-year-old female who presented with progressive headache and nausea accompanied by a painful firm mass in her left parietal region, which grew very rapidly during the last two weeks before admission. Computed tomography scan showed an osteolytic lesion, which on magnetic resonance imaging appeared hyperintense on both T1- and T2-weighted images, with marked and heterogeneous enhancement after gadolinium administration. Total surgical excision of the lesion was performed and histopathological diagnosis was compatible with eosinophilic granuloma. Immuno-histochemical study of Ki-67 antigen expression was also performed with a labelling index of 10%. In a review of the pertinent literature, we found one case report showing a Ki-67 labelling index of 6.2% in a patient harboring EG of the occipital bone. These two relatively high percentages of proliferative activity suggest a role of local Langerhans'cell proliferation, along with that of inflammatory response, in the aggressive clinical course and rapid expansion observed in some rare cases of solitary eosinophilic granuloma.

Adult↗
PubMed2005

Stent implantation for treatment of symptomatic spontaneous cervical internal carotid artery dissecting aneurysm. A case report.

Cervical internal carotid dissections are rare. Approximately one third of the cases are associated with pseudoaneurysm. The first-choice management of cervical carotid dissecting aneurysms consists in anticoagulation or antiplatelet therapy. Surgery is typically indicated in cases of failure of conservative therapy with recurrent cerebral ischemic attacks. In recent years, stent implantation has been also employed for the management of patients with carotid dissecting aneurysms whose neurological conditions were refractory to medical treatment. In the present case we describe the treatment of a patient with a carotid dissecting aneurysm, by means of endovascular stent application and provide angiographic control 24 months after the intervention.

Carotid Artery, Internal↗
PubMed2004

Bilateral hypoplasia of the internal carotid arteries with basilar aneurysm.

We report a rare case of bilateral hypoplasia of the internal carotid arteries with an associated aneurysm of the basilar tip, studied by CT angiography, MR angiography and digital angiography. The patient became symptomatic with an episode of loss of consciousness, likely due to reduced blood perfusion. The other 20 reported cases of bilateral carotid hypoplasia (only four of which with an associated aneurysm) are reviewed. The findings of noninvasive procedures (including narrowing of the carotid canals on CT) may lead to a correct diagnosis before angiography is performed; they may also help to differentiate angiographic narrowing of the hypoplastic internal carotids from the string sign often observed in some acquired conditions.

Carotid Artery, Internal↗
PubMed2004

Giant intradiploic epidermoid cyst of the occipital bone.

A rare case of giant intradiploic epidermoid cyst of the occipital bone with large intracranial extension in the posterior fossa is described. The lesion was discovered when the patient presented with headache and subcutaneous swelling in the occipital region, in the absence of signs of neurological involvement. CT scan showed extensive destruction of the occipital bone, mainly of the inner table, up to the foramen magnum. On MRI the lesion was hypointense in T(1) and hyperintense in T(2)-weighted images; signal inhomogeneity was due to cellular debris and cholesterol crystals. The enhancing rim due to the thickened dura confirmed the extradural location. Complete removal of the cyst was easily accomplished despite its large size. We found only 3 documented cases in the literature of giant intradiploic infratentorial epidermoid cysts, none of which was studied by MRI. The radiological features and differential diagnosis are discussed.

Epidermal Cyst↗
PubMed2004

Hemorrhagic vascular complications of endoscopic transsphenoidal surgery.

Two hundred and fifty consecutive patients operated on by an endoscopic endonasal transsphenoidal approach were retrospectively analyzed in order to evaluate hemorrhagic vascular complications occurring during or after the surgical procedure and their appropriate management. Vascular complications of endoscopic transsphenoidal surgery are identical to those of a microsurgical transsphenoidal approach. Damage to the sphenopalatine artery and to the internal carotid artery (ICA), which are the most frequent vascular troubles, may require technical tricks because of some aspects connected to the approach itself and of the physical properties of the endoscope. Furthermore, the progress in interventional neuroradiology in the last decades offers new solutions in respect to the past, where the use of the surgical microscope was already a tremendous progress. The anatomic substrate of each complication is discussed, along with the peculiar surgical details related to it.

Carotid Artery, Internal↗
PubMed2004

An unusual case of vertebral arteriovenous fistula treated with electrodetachable coil embolization.

Vertebral arteriovenous fistulas (VAF) are rare clinical entities. Most are post-traumatic in origin, following direct injury, or iatrogenic. Treatment options include endovascular occlusion or direct surgical closure. We present a rare case of a spontaneous VAF, presenting with cervical and upper limb pain in a patient with previous chiropractic manipulations, successfully treated with electrodetachable coil embolization. While the natural history of the VAFs is still to be settled, endovascular occlusion appears to be a safe and reliable method to deal with such lesions, mainly in symptomatic cases. The use of electrically detachable coils may be considered as an effective alternative for the endovascular occlusion of these fistulas.

Arteriovenous Fistula↗
PubMed2004

Lymphoplasmacyte rich meningioma. A case report and review of the literature.

A peculiar type of meningioma with conspicious plasma-cell components is described. In accordance with the World Health Organization's Histological Typing of Tumours of the Central Nervous System, this rare clinical entity is recently designed as lymphoplasmacyte rich (LPR) meningioma. This type of meningioma is usually accompanied by prominent peripheral blood abnormalities, anemia and/or policlonal gammophaty, that disappear after surgical removal of the tumor. Actually, the origin (neoplastic or inflammatory) of this tumor is unclear; its biological behavior and clinical course are anomalous so it is considered closer to intracranial inflammatory masses rather than typical meningioma. In this paper, a new case of intracranial LPR meningioma occurring in a woman, is reported and a review the literature is made.

Anemia↗