Parkinson’s disease and dementia

Neurological Sciences - Parkinson’s disease (PD) is one of the most common neurodegenerative disorders, affecting about 1% of the population over the age of 60. In addition to motor...     

Changes of nucleolar organizer regions in granulopoietic precursors during the course of chronic myeloid leukemia

The aim of the present study was to analyze the nucleolar organizer region (AgNOR) pattern of granulopoietic precursors in chronic myeloid leukemia (CML) at diagnosis and during the course of the disease. Clusters of AgNORs and isolated dots were counted separately in 24 cases of CML at diagnosis, in 19 cases during the relapse of the chronic phase after treatment, and in 16 cases of blast crisis. For comparison, 20 cases of normal bone marrow were studied. Each cell type had its own characteristic AgNOR pattern, as has been described for normal bone marrow. There was no significant difference in the number of AgNORs between cells in the peripheral blood and bone marrow. Compared with normal granulopoiesis, myeloblasts in CML at diagnosis had lower numbers of clusters, which decreased further during relapse of chronic phase and in blast crisis. Promyelocytes and myelocytes showed significantly fewer dots. The number of AgNOR clusters correlates inversely with the duration of the cell cycle. Therefore, these findings are consistent with the progressive loss in proliferative activity of immature precursors described during the course of CML. As the number of dots indicates cellular maturation, their lower number in promyelocytes and myelocytes in CML favors the concept of a discordant maturation process described in this desease. The separate counting of clusters and dots provides a useful, simple, and cheap method of describing cytokinetic changes during the course of this myeloproliferative     

Pure midbrain ischemia and hypoplastic vertebrobasilar circulation

Isolated midbrain infarction is rare and little is known about etiology and patient’s long-term follow up. We aimed to describe the clinical features, the causative diseases and the outcome of patients with isolated midbrain infarction who were admitted to our center, focusing on vascular abnormalities of posterior circulation. All patients with first acute ischemic stroke limited to the midbrain were included and their demographic features, neurological symptoms, neuroimaging data, and cardiovascular risk factors were recorded. Functional outcome, using modified Rankin scale, was assessed at discharge and at the 3 month follow up evaluation. We found nine patients with acute isolated midbrain infarction, representing 0.61 % of all ischemic stroke admitted to our center. The most common cause of stroke was small-vessel disease (88.8 %). At stroke onset, none of the patients had consciousness disturbances, and four patients (44.4 %) had gait impairment, five patients (55.5 %) presented with diplopia due to involvement of the third nerve or fascicular type of third-nerve palsy, seven patients (77.7 %) had vascular anomalies of vertebrobasilar circulation: the most frequent was vertebral artery hypoplasia [four patients (44.4 %)]. At follow up evaluation, seven patients (77.7 %) had a good functional outcome and no patients experienced recurrence of cerebrovascular events. As isolated midbrain infarction is uncommon, specific ocular motor signs, mainly third-nerve palsy, may help to identify and localize the mesencephalic infarct. Abnormalities in vertebrobasilar circulation, such as hypoplastic basilar or vertebral artery, are frequently associated with isolated midbrain ischemia. The hypoplastic vertebrobasilar system may predispose to posterior ischemic stroke.     

Conservation of erectile function following brachytherapy for low-risk prostate cancer

Brachytherapy (BT) is an effective option to treat low-risk prostate cancer (CaP). While oncological results are consistent with those reported following radical retropubic prostatectomy (RRP), attention may be given to the advantages in terms of functional results that a less invasive approach can ensure. The aim of this study is to assess the impact of the conservation of erectile function (EF) in patients who underwent BT with a short and medium term follow-up. MATERIALS AND METHODS. Between May 1999 and January 2005, 170 patients underwent BT for low-risk CaP (intracapsular prostate cancer, PSA , 10 ng/mL, Gleason score , 6). Among them, 58 patients (average age 65.6) with good preoperative erectile function (IIEF>22) and a minimum follow-up of 5 years were selected. The results were evaluated by comparing the values of pre- and postoperative IIEF questionnaire at 3 months, 1 and 5 years of medium follow-up. RESULTS. At a mean 3-month follow-up, a spontaneous recovery of EF (IIEF> 17), strongly influenced by urinary irritative disorders, was reported by 34/58 patients (58%). At 1 and 5 years, good EF (IIEF >22) was reported by 45/58 (78%) and 39/58 (68%) patients, respectively. DISCUSSION AND CONCLUSIONS. The recovery of EF was good one year after BT (78%). Urinary disorders are a significant limiting factor on this recovery. The deterioration of EF during the follow-up, which was already described in literature, is due not only to ageing but also to a delayed radioactive effect on pelvic structures.     

Genetic contributors to frontotemporal lobar degeneration: beyond monogenic disease

Frontotemporal Lobar Degeneration (FTLD) is a genetically and pathologically heterogeneous disorder characterized by behavioral change, executive dysfunction and language impairment associated with frontal and temporal lobe degeneration. Three major clinical subtypes have been identified so far, namely behaviour variant Frontotemporal dementia (bvFTD), Semantic Dementia (SD) and Progressive Non-Fluent Aphasia (PNFA). FTLD might also overlap with atypical parkinsonisms or motor neuron disease. Several pathogenetic mutations have been associated with specific pathological and clinical correlates. FTLD associated with either Microtuble Associated Protein Tau (MAPT) or Progranulin (PGRN) mutations is recognised as the most common form of autosomal dominant inherited disorder. However, monogenic mutations account for only about one third of all FTLD cases. Several studies have evaluated the contribution of genetic background in non-monogenic forms of FTLD, with the attempt to establish its role in increasing disease risk and in modulating clinical phenotypes. Specific MAPT and PGRN polymorphisms have been demonstrated to affect disease onset, clinical features and prognosis of FTLD, and genetic variations within other genes appear to play a role in influencing disease risk and clinical expression of FTLD. The aim of the present review is to discuss the impact and the role of genetic background in non-monogenic forms of FTLD, to highlight new potential pathogenetic and therapeutic targets.     

Primitive reflex evaluation in the clinical assessment of extrapyramidal syndromes

The aim of the present study was to evaluate the role of primitive reflexes (PRs) as additional alert sign in routine clinical practice in patients with extrapyramidal syndrome. We considered glabellar, snout, palmomental and grasp reflexes in patients with mild stage of Lewy body dementia (LBD), corticobasal degeneration, progressive supranuclear palsy or Parkinson disease (PD). We also enrolled mild Alzheimer disease (AD) patients, and healthy subjects, as controls. LBD patients showed the highest prevalence of PRs compared with the other groups. The odds ratio of the risk of LBD in PRs ≥ 2 was 27.9 (95% CI 2.9–269.0) compared with control group, 14.6 (95% CI 2.7–79.6) compared with mild AD, and 19.7 (95% CI 3.7–104.3) compared with PD. These data suggest that the occurrence of combination of PRs might be an useful additional warning sign of possible diffuse Lewy body pathology more than other causes of extrapyramidal syndrome.     

Robot-asssisted laparoscopic radical prostatectomy (ralp). Oncological and functional findings after 90 cases

The RALP is the most modern technology available for the treatment of intracapsular prostate cancer (CaP), which can produce a shorter learning curve and better results than the traditional techniques. METHODS. Between March 2005 and March 2008, 90 patients (64.3 ys, range 52-71) with intracapsular CaP underwent RALP at our institute. Before surgery the patients underwent routine examinations and filled in IIEF, IPSS and EORTC-QLQC30/PR 25 questionnaires. Patients were followed up with PSA assay, physical examination and compilation of the questionnaires. Median follow-up was 12.5 months (range 1-35 months). RESULTS. Mean operative time was 230 min. Discharge and catheter removal were at day 7.4 and 8.2, respectively, after surgery. Pathological staging reported pT2 and pT3 in 57 (63%) and 33 patients (37%), respectively. Positive surgical margins were assessed in 30 patients (33%), particularly 8.7% in pT2 tumors. The one-year biochemical disease-free survival rate was 90%. Regarding the functional results, 81 patients (90%) were perfectly continent while a mild and a moderate incontinence were reported in 7 (8%) and 2 (2%) patients, respectively. Mean IPSS score decreased from 8 to 4; among the patients who underwent bilateral nerve sparing RALP and no adjuvant therapy, 31 (70.4%) reported satisfactory sexual intercourses. Concerning postoperative quality of life, mean EORTC-QLQC30/PR 25 questionnaires scores were very similar before and after RALP. CONCLUSIONS. After 90 cases of RALP the oncological and functional results are definitely promising. However, a wider number of patients and a greater follow-up are needed to confirm these data particularly as regards the functional results.     

Device for zone-II flexor tendon repair. A multicenter, randomized, blinded, clinical trial

BACKGROUND: The stainless-steel Teno Fix tendon-repair device has improved biomechanical characteristics compared with those of suture repair, and it was well tolerated in a canine model. The purpose of this study was to compare the Teno Fix with suture repair in a clinical setting. METHODS: Sixty-seven patients with isolated zone-II flexor tendon injury were randomized to be treated with a Teno Fix or a four-stranded cruciate suture repair. There were eighty-five injured digits: thirty-four were treated with the Teno Fix, and fifty-one served as controls. A modified Kleinert rehabilitation technique was employed, with active flexion starting at four weeks postoperatively. Patients were followed for six months by blinded observers who determined the range of motion, Disabilities of the Arm, Shoulder and Hand (DASH) score, pinch and grip strength, and pain score on a verbal scale and assessed swelling and neurologic recovery. Adverse outcomes, including device migration and rupture, were monitored at frequent intervals. RESULTS: Nine of the fifty-one suture repairs ruptured, whereas none of the Teno Fix repairs ruptured (p < 0.01). Five of the nine ruptures were caused by resistive motion against medical advice. There were no differences between the two groups in terms of range of motion, DASH score, pinch and grip strength, pain, swelling, or neurologic recovery. The Teno Fix group had slightly slower resolution of pain and swelling compared with the control group. Of the patients who were available for follow-up at six months, sixteen of the twenty-four treated with a Teno Fix repair and nineteen of the twenty-seven treated with a control repair had a good or excellent result. One Teno Fix device migrated and extruded secondary to a wound infection. Of all eighty-five digits that were operated on, four were thought to have tendons of inadequate size to accommodate the device and nine were deemed to have inadequate exposure to allow placement of the anchors. CONCLUSIONS: The Teno Fix is safe and effective for flexor tendon repair if the tendon size and exposure are sufficient. Tendon repairs with the Teno Fix have lower rupture rates and similar functional outcomes when compared with conventional repair, particularly in patients who are noncompliant with the rehabilitation protocol.