A rare case of a giant cervical osteochondroma

Background: Osteochondroma or osteocartolaginous exostosis is the most common benign tumor of bone. They account for 35% to 50% of benign bone neoplasms and 10% to 15% of all primary bone tumors. Usually these tumors are found in the appendicular skeleton, especially in the metadiaphyseal region of long bones. Spinal osteochondromas, however, are uncommon especially at cervical level. Clinical presentation: We report the case of a 16 year old boy presenting a hard, gradually progressing, large swelling mass, over the posterior part of the neck causing pain. Radiological images revealed a giant solitary osteochondroma arising from C3 to C6 laminae. The patient underwent complete surgical exc…

Advanced Hemostatics in the Management of Cerebral Dural Sinus Lacerations

The authors reported their experience with 57 consecutive patients who were treated with this hemostatic technique to control bleeding from iatrogenic tears of the superior sagittal sinus or transverse/ sigmoid sinuses whenever standard maneuvers (eg, compression, oxidized cellulose, gelatin sponge) failed or were considered too time-consuming, inadequate, or risky.

EEG Resting-State Functional Networks in Amnestic Mild Cognitive Impairment.

Background. Alzheimer’s cognitive-behavioral syndrome is the result of impaired connectivity between nerve cells, due to misfolded proteins, which accumulate and disrupt specific brain networks. Electroencephalography, because of its excellent temporal resolution, is an optimal approach for assessing the communication between functionally related brain regions. O bjective. To detect and compare EEG resting-state networks (RSNs) in patients with amnesic mild cognitive impairment (aMCI), and healthy elderly (HE). Methods. We recruited 125 aMCI patients and 70 healthy elderly subjects. One hundred and twenty seconds of artifact-free EEG data were selected and compared between patients with aM…

Association of kidney disease measures with risk of renal function worsening in patients with type 1 diabetes

Background Albuminuria has been classically considered a marker of kidney damage progression in diabetic patients and it is routinely assessed to monitor kidney function. However, the role of a mild GFR reduction on the development of stage ≥3 CKD has been less explored in type 1 diabetes mellitus (T1DM) patients. Aim of the present study was to evaluate the prognostic role of kidney disease measures, namely albuminuria and reduced GFR, on the development of stage ≥3 CKD in a large cohort of patients affected by T1DM. Methods A total of 4284 patients affected by T1DM followed-up at 76 diabetes centers participating to the Italian Association of Clinical Diabetologists (Associazione Medici D…

Microcephaly a clinical-genetic and neurologic approach

Chronic inflammation causing spinal cord compression in human immunodeficiency virus infection

BACKGROUND: The incidence of central nervous system involvement has increased in the setting of acquired immune deficiency syndrome (AIDS). Although rarely reported, spinal cord compression, in the setting of AIDS, has been associated with primary lymphoma or opportunistic infections. CASE REPORT: The authors describe the case of a young man who was admitted to our institution with rapid and progressive paraplegia. Imaging studies revealed an extramedullary lesion compressing the spinal cord spanning 3 thoracic levels. Surgical treatment was performed, and the compressing process completely excised. Histologic examination of the lesion showed a chronic inflammatory tissue with many necrotic…

Diagnosis and follow-up of complex congenital malformations/mental retardation (MRA/MR)

Complex congenital malformations, associated in 30% of cases with mental retardation, recognize different etiologies: environmental causes, mendelian disease, chromosomal abnormalities, imprinted anomalies. Frequently complex congenital disorders are rare diseases. Rare diseases are infrequent pathological conditions (prevalence in the general population of less than 1/2.000 live births1), and often poorly understood. Because of their rarity these morbid conditions often either go undiagnosed or are diagnosed late with a negative impact for both the affected person and the family. The birth prevalence is high (2-4% of all births). The diagnosis is essential to program complex and integrated…

Enfisema sottocutano cervico-facciale e pneumomediastino dopo chirurgia cervicale con approccio anteriore: management diagnosticoterapeutico di una grave complicanza.

Unusual case of dorsal vertebral metastases from a male breast cancer

Introduction: Breast cancer is a malignant neoplasm arising from mammary glands and is a rare entity in the male patient. Spine is a common site for skeletal metastases. Case presentation: A 53-years-old male was admitted to our Neurosurgical unit because of an untreatable dorsal pain. He had been treated 3 years before for breast cancer. A dorsal Magnetic Resonance Imaging (MRI) evidenced pathological masses at T8 level. A total body Computed Tomography (CT) scan revealed lungs and liver metastases. After a multidisciplinary consult, a posterior T8 decompression, a radiofrequency thermoablation in T8 vertebral body followed by screws and rods fixation (T7-T9) was performed. Post-operative …

Eosinophilic granuloma of the skull vault: A case report

Background: Eosinophilic granuloma is the benign form of Langerhans cell histiocytosis, a rare proliferative disorder. Skull osteolytic lesions are quite frequently encountered. Case report: We report the case of a 16 year old boy who was admitted to our Department with a painful swelling left frontal mass. A diagnosis of eosinophilic granuloma was presumed on the basis of the neuroradiological findings. Surgical removal of the lesion was achieved and the bone defect reconstructed by autologous fibrin glue and a titanium mesh. Histopathology confirmed the diagnosis. Conclusion: Although uncommon, eosinophilic granuloma should be considered in the differential diagnosis in case of an osteoly…

Type and counter-type from specific chromosomal regions

Several studies have shown the importance of segmental deletions/duplications in the field of chromosome pathologies. Non allelic homologous recombination, NAHR, between chromosomes or sister chromatids, mediated by segmental duplications, is the foundation of frequent mechanisms for structural chromosome mutations such as micro-deletions, micro-duplications, translocations, inversions, and marker chromosomes. We analyzed three distinct genomic regions (22q11.2, 17p11.2, 16p11.2) and we discussed how the same chromosome region can be affected by deletion or by reciprocal duplication, respectively responsible for a syndrome or for a reciprocal counter-syndrome, with different phenotypic mani…

ASFISSIA PERINATALE:VALUTAZIONE CLINICO-EPIDEMIOLOGICA IN UN CAMPIONE DI NEONATI DI ≥ 34 SEG

Asfissia, late preterm, a termine

Copy number variations in the etiology of epilepsy

Epilepsy is one of the most common neurological disorders in humans with a prevalence of 1% and a lifetime incidence of 3%. Idiopathic epilepsies occur in the absence of identifiable causal factors, but recent evidences show the role of genetic factors in the developing of these disorders. In particular, several studies focused their attention on the role of copy number variations (CNVs) in the etiology of epilepsy. In recent years, many CNVs have been identified, like 15q11.2, 15q13.3 and 16p13.11 microdeletions, 22q11.2 microduplication and many others. Possible candidate genes included in these regions were also studied and they seem to be involved in neuronal transmission and ion transp…