Genetic abnormalities and CNS tumors: report of two cases of ependymoma associated with Klinefelter’s Syndrome (KS)

Objects Genetic syndromes associated with ependymoma are uncommon, with the exception of NF2. We describe two cases of ependymoma presenting with Klinefelter’s Syndrome (KS) as co-morbid condition. Materials and methods The first patient was diagnosed for KS during pregnancy; he also presented a thyroid agenesis and a deficit of methyltetrahydrofolate reductase (MTHFR); at 30 months of age he was operated on for a grade II ependymoma of IV ventricle; after a multiple-stage surgery, he underwent oral chemotherapy and stereotactic radiotherapy, but after 15 months he presented a local recurrence and died. The second patient was diagnosed for KS at the age of 16 months; at 10 years of age, due to back pain, he underwent an MRI, which showed a cauda equine tumor. He underwent surgery and radiotherapy. Histology was of mixopapillary ependymoma. Conclusion In a review of literature, various neoplasms have been described in association with KS. To our knowledge, these are the first two cases reported of ependymoma associated to KS. A retrospective study of 44 monoinstitutional ependymoma cases demonstrated association with genetic syndromes in 22%.     

Diffusion-weighted imaging study of patients with essential tremor.

The pathophysiology of essential tremor (ET) is unknown. PET and fMRI studies have revealed bilateral activation and (1)H-MRS studies metabolic abnormalities in the cerebellum and other functionally related brain structures in ET. Diffusion-weighted imaging (DWI) was used to search for evidence of tissue integrity abnormalities in these areas in ET patients and 10 matched controls by calculating water apparent diffusion coefficients (ADCs). Regions of interest included the left and right cerebellum, red nucleus, thalamus, caudate, putamen, pallidum, and frontal white matter. Histograms of ADCs were generated for all pixels in the infratentorial compartment and manually segmented areas corresponding to brainstem, vermis, and cerebellar hemispheres. ADC values were similar in all brain areas in patients and controls. Our study did not detect changes affecting the investigated brain regions in ET patients. These findings argue against major structural damage in the ET brain, although more subtle neurodegenerative changes cannot be ruled out.     

Effects of heart rate on phasic Y-graft blood flow and flow reserve in patients with complete arterial myocardial revascularizaton: an intravascular Doppler catheter study.

OBJECTIVE: It is not well established whether the blood flow of arterial composite Y-grafts can efficiently respond to the flow demand of the coronary system early postoperatively. The aim of this study was to evaluate if soon after the operation, arterial composite Y-grafts can increase blood flow in response to an increase in myocardial oxygen consumption (MVO2). METHODS: Twenty-seven patients who received complete arterial myocardial revascularization using the left internal thoracic artery (LITA) and the radial artery (RA) as composite Y-graft gave their consent to a pre-discharge coronary angiography and intravascular flow velocity measurements using a Doppler guide wire. Flow measurements were performed in the LITA main stem, the distal LITA and the RA, both at rest and during atrial pacing at the 85% of the patient age-predicted maximum. The heart rate-systolic blood pressure product was considered as an indirect index of MVO2. Hyperemic flow was determined after injection of adenosine. The flow reserve (FR) was defined as the ratio of blood flow during maximal hyperemia (Qmax) to baseline flow (Qbasal). RESULTS: Atrial pacing increased MVO2 significantly (P<0.000). None of the patients developed ischemic S-T segment modifications or complained of chest pain. Q(basal) increased significantly in the LITA main stem (P=0.001), distal LITA (P=0.041) and RA (P=0.004) while Qmax did not change significantly. As a consequence, the FR decreased in the LITA main stem (P=0.002), distal LITA (P<0.000) and RA (P<0.000) but was not completely exhausted. CONCLUSIONS: Soon after the operation, arterial composite Y-grafts can significantly increase blood flow in response to conditions of increased MVO2, keeping normal the myocardial O2 supply-to-demand ratio.     

Retroperitoneal leiomyosarcoma mimicking acute appendicitis: laparoscopic management.

BACKGROUND: Retroperitoneal leiomyosarcomas (RLMS) are a challenging clinical entity. The vast majority of patients are operated on when tumors are advanced. We report herein a case of RLMS, mimicking acute appendiceal disease and treated successfully via laparoscopy. METHODS: A 37-year-old woman, para 1, was admitted to our department for right lower quadrant abdominal pain, fever, and leukocytosis. She had no changes in gastrointestinal and urologic function. A physical examination revealed the presence of abdominal guarding, rebound, and a tender mass in the right lower quadrant. The abdominal ultrasound showed an inhomogeneous ovoid mass (6 cm in diameter) located below the cecum, with no definite margins, and consistent with an appendiceal abscess. The patient was referred for laparoscopy. The procedure was performed with the aid of 3 ports: a 12-mm trocar in the umbilicus (open technique), a 10-mm trocar in the left iliac fossa, and a 5-mm one in the supra-pubic space. On inspection of the abdominal cavity, a retroperitoneal 6-cm mass was immediately found below the cecum and the appendix. Neither intraperitoneal seeding nor suspected lymph nodes were present. After dissection of the parietal peritoneum, the mass appeared to be encapsulated and well demarcated from all surrounding structures. It was eventually dissected and removed via a plastic bag. A standard appendectomy was also performed. The postoperative course was uneventful, and the patient was discharged on the 3rd day. The histology analysis of the resected specimen showed a totally excised G2 leiomyosarcoma. The appendix had no signs of inflammation. Postoperatively, the patient underwent a total-body CT-scan, which had no signs of residual or distant disease. No adjuvant therapy was necessary. At an 18-month follow-up, the patient was doing well and was disease free. CONCLUSION: Surgery represents the main therapeutic option for resectable RLMS. Laparoscopy is a useful diagnostic tool that allows safe resection of incidentally discovered, small and well encapsulated RLMS.     

Sources of cortical rhythms change as a function of cognitive impairment in pathological aging: a multicenter study.

OBJECTIVE: The present study tested the hypothesis that cortical electroencephalographic (EEG) rhythms. change across normal elderly (Nold), mild cognitive impairment (MCI), and Alzheimer's disease (AD) subjects as a function of the global cognitive level. METHODS: Resting eyes-closed EEG data were recorded in 155 MCI, 193 mild AD, and 126 age-matched Nold subjects. EEG rhythms of interest were delta (2-4 Hz), theta (4-8 Hz), alpha 1 (8-10.5 Hz), alpha 2 (10.5-13 Hz), beta 1 (13-20 Hz), and beta 2 (20-30 Hz). EEG cortical sources were estimated by LORETA. RESULTS: Occipital delta and alpha 1 sources in parietal, occipital, temporal, and 'limbic' areas had an intermediate magnitude in MCI subjects compared to mild AD and Nold subjects. These five EEG sources presented both linear and nonlinear (linear, exponential, logarithmic, and power) correlations with the global cognitive level (as revealed by mini mental state examination score) across all subjects. CONCLUSIONS: Cortical EEG rhythms change in pathological aging as a function of the global cognitive level. SIGNIFICANCE: The present functional data on large populations support the 'transitional hypothesis' of a shadow zone across normality, pre-clinical stage of dementia (MCI), and AD.     

Risk of death from acute pancreatitis

Summary Conclusions The analysis of all the data available in 192 patients at 24 h from admission shows that only serum glucose above 250 mg/dL (13.88 mmol/L) and serum creatinine above 2 mg/dL (176.8 μmol/L) are prognostic factors of death (P<0.0001). When, however, pathological chest X-rays are also considered in a subset of 149 patients, these and serum creatinine are prognostic factors of death with odds ratios of 2.9 (95% CL 1.3–6.3) and 9.4 (95% CL 2.2–40.7), respectively (P<0.0001). Background In patients suffering from acute pancreatitis, neither Ranson scores nor Glasgow criteria evaluation at 24 h yield a sufficiently reliable prognosis of the risk of death from the first acute attack. Methods After excluding posttraumatic, postsurgical, and post-ERCP acute pancreatitis, we selected 192 consecutive patients admitted in the first instance to our center for a first attack, distinguishing between patients who died and patients who survived. We used Cox's model to analyze the prognostic weight of variables available within 24 h of admission (sex, age, alcohol intake, smoking habits, 17 biochemical tests, body mass index, chest X-rays, body temperature, and shock status). Results Seventeen (8.8%) patients died; mortality showed a decreasing trend over the period of years considered and was correlated, among other things, with necrotizing type of pancreatitis, idiopathic etiology, and shock status on admission.     

Abnormal sensorimotor integration is related to disease severity in Parkinson's disease: a TMS study.

Hyperexcitability of the motor system has been reported in Parkinson's disease (PD). We evaluate how cutaneous afferents modulate motor excitability in PD patients and whether abnormal modulation is correlated to parkinsonian symptoms. Digital stimulation causes abnormal enhancement of motor responses in patients. This effect may be one of the features of motor hyperexcitability in PD. Cutaneomotor hyperexcitability correlates with clinical scores, suggesting that abnormal processing of cutaneous inputs might contribute to the pathogenesis of parkinsonian symptoms.     

Management of bowel obstruction in advanced and terminal cancer patients

Background: Bowel obstruction is a common and distressing outcomein patients with abdominal or pelvic cancer. Patients and methods: Patients may develop bowel obstructionat any time in their clinical history, with an incidence rangingfrom 5.5% to 42% in ovarian carcinoma and from 10% to 28.4%in colorectal cancer. The causes of the obstruction may be benignpostoperative adhesions, a focal malignant or benign deposit,relapse or diffuse carcinomatosis. The symptoms which are almostalways present are intestinal colic (reported in 72%–76%of patients), abdominal pain due to distension, hepatomegalyor tumor masses (in 92% of patients) and vomiting (68%–100%)of cases. Conclusion: While surgery must remain the primary treatmentfor malignant obstruction, it is now recognised that there isa group of patients with advanced disease or poor general conditionwho are unfit for surgery and require alternative managementto relieve distressing symptoms. A number of treatment optionsare now available for the patient with advanced cancer who developsintestinal obstruction. In this review of the literature, theindications for surgery will be examined, the use of nasogastrictube and percutaneous gastrostomy evaluated and the place ofdrugs for symptom control described. bowel obstruction, advanced and terminal cancer patients     

Transplantation of normal hepatocytes modulates the development of chronic liver lesions induced by a pyrrolizidine alkaloid, lasiocarpinet

Laipcarpine (LC), a pyorrolizidine alkaloid, is able to inducea series of chronic and progressive lesions in rat liver, includingalong-lasting block in the cell cycle, the appearance of enlargedhepatocytes (megalocytosis), fibrosis, cirrhosis and malignantneoplasms. In this study the effect of transplantation of normalhepatocytes on the development of LC (80 µmol/kg i.p.).Four weeks later all animals were subjected to 2/3 paroticlhepatectomy (PH). In addition, at the time of PH one group ofrats were transplanted with normal hepatocytes isolated froma syngeneic donor (10⁶ cells/rat via the portal vein), whilethe other group received only the culture medium. All rats werekilled 14 weeks after the operation. Grossly, the liver of ratsexposed to LC followed by PH with no transplantation of normalhepatocytes was small in size (% liver wt/body wt 1.66 ±0.08) and exhibited a few whitish nodules. Histologically,