Status dissociatus after surgery for tegmental ponto-mesencephalic cavernoma: a state-dependent disorder of motor control during sleep.

After surgery for a tegmental ponto-mesencephalic cavernoma, a patient developed sleep-related excessive fragmentary myoclonus, diffuse myoclonic jerks, simple quasipurposeful movements of the limbs, and rapid eye movement (REM) sleep behaviour disorder as motor features of status dissociatus, a condition in which elements of one state of being (wake, NREM and REM sleep) pathologically intrude into another.     

Favorable responses to acute and chronic exercise in McArdle patients.

OBJECTIVE: This study reports acute exercise responses in a large (N = 46) series of patients with McArdle disease and responses to exercise training in a smaller (n = 9) set of patients. DESIGN: Patients were studied during both incremental and steady-state cycle ergometer exercise, using cardiopulmonary testing, and the patients were compared with age- and gender-matched controls. SETTING: The study was performed in a university setting (clinical exercise physiology laboratory). PARTICIPANTS: The 46 patients showed common features of McArdle disease. They were definitively diagnosed by histochemistry, biochemistry, and/or molecular genetic analysis. The 46 controls were healthy, sedentary individuals. INTERVENTION: Nine patients were studied before and after an 8-month supervised aerobic exercise training program (including five weekly sessions of walking and/or cycling exercise with a duration no greater than 60 minutes). MAIN OUTCOME MEASUREMENTS: The main indicators of exercise capacity that we measured were peak power output, peak oxygen uptake (VO2peak), and ventilatory threshold (VT). RESULTS: Exercise capacity (peak power output, 35% control; VO2peak, 44% control; VT, 66% control) was markedly depressed in the patients. The patients who trained improved peak power output (25%), VO2peak (44%), and VT (27%), with no evidence of negative outcomes from training. Although not achieving normal values, the response to training put the patients into the lower limit of normal controls. CONCLUSIONS: Under carefully controlled conditions, patients with McArdle disease may perform acute exercise safely, and they may respond favorably to training. This may offer an additional therapeutic option to help normalize the lifestyles of these patients.     

Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations.

Cavernous vascular malformations may affect brain and out-of-brain tissues. In most cases, cerebral cavernous malformations (CCMs) involve the brain alone, and are rarely associated with skin hemangiomas, spinal cord, retinal, hepatic or vertebral lesions. CCMs can cause seizures, intracranial and spinal haemorrhages, focal neurological deficits, and migraine-like headaches. After collecting CCM families of Italian origin and investigating the genetic basis of the disorder we disclosed two novel molecular variations in the KRIT1 and MGC4607 genes. We found a novel CCM1 gene mutation (Q66X) in a family with apparently asymptomatic old-aged mutation carriers and patients who either had skin angiomas alone or the full association of cerebral, spinal, and skin lesions. In this family we report the highest variability in mutation penetrance so far described, including the presence of CCM in one subject since birth (surgery at 19 months of age), a condition to our knowledge so far unreported. In a CCM2 affected family, we also report a novel causative mutation, (54_55delAC) in exon 2 of the MGC4607 gene, that produces a truncated protein containing only 22 amino acids. These data describe novel CCM mutations associated with a particularly high variability of the penetrance causing, in some cases, reduced expression of clinical symptoms and sporadic cases with apparent negative family history. Hence they emphasize the importance of DNA-based diagnostics and genetic counseling to identify unaffected mutation carriers subjects, even at advanced age.     

Visual parameters in patients with pituitary adenoma before and after transsphenoidal surgery

Eighty-two patients with pituitary adenoma who underwent transsphenoidal surgery were examined before and after surgery. Nineteen patients had a normal preoperative neuro-ophthalmological examination. All of these patients maintained normal visual parameters postoperatively. The remaining 63 patients had tumour-related loss of visual acuity, visual field, or both. These patients ranged in age from 18 to 78 years. Duration of symptoms ranged from one day to ten years, with a median of six months. Preoperative visual acuity was 6/12 or better in 72% of eyes, with 90% of patients having 6/12 or better in their better eye. Only 7% of eyes had a normal preoperative visual field. Both visual acuity and visual field improved postoperatively in the majority of eyes. In eyes that were examined within one week after surgery and subsequently, substantial improvement occurred within the first postoperative week, but further improvement continued over weeks to months postoperatively, with visual field taking longer to stabilise than visual acuity. Visual acuity at last examination was 6/12 or better in 87% of eyes, and visual field at last examination was normal in 50% of eyes. A total of 92% of patients had visual acuity of 6/12 or better in their better eye, and 62% of patients had a normal visual field in their better eye. Visual acuity at last examination was correlated with both age and preoperative visual acuity. Last visual field also was correlated with both age and preoperative visual field. Patients with preoperative optic atrophy had a poorer visual prognosis than did patients with normal fundi.     

Laboratory diagnosis of boutonneuse fever by enzyme-linked immunosorbent assay

Little is known about the use of the enzyme-linked immunosorbent assay (ELISA) in the diagnosis of boutonneuse fever, and the reports which do exist have concerned the use of a strain of African origin and a peroxidase-labelled conjugate. We have used, as antigen, a Sicilian strain of Rickettsia conorii recently isolated from a patient with boutonneuse fever and anti-human immunoglobulins G and M labelled with alkaline phosphatase as conjugate. 432 (84.6%) of 500 sera from patients with boutonneuse fever, 4.4% of 384 sera from patients with various other pathologies, and 2.9% of 204 sera from blood donors gave positive reactions. The ELISA was highly sensitive and specific in the diagnosis of boutonneuse fever, and seems to be the test of choice for sero-epidemiological investigations, and when a large number of specimens must be examined. The test is more sensitive than the indirect immunofluorescence test, at least in the early stage of the disease (44.9% vs 21.3% positive respectively), and a long time after an acute attack.     

Genomovar status, virulence markers and genotyping of Burkholderia cepacia complex strains isolated from Brazilian cystic fibrosis patients

Burkholderia cepacia complex isolates obtained by microbiological culture of respiratory samples from Brazilian CF patients were studied by recA based PCR, screened by specific PCR for virulence markers and genotyped by RAPD. Forty-one isolates of B. cepacia complex were identified by culture and confirmation of identity and genomovar determination obtained in 32 isolates, with predominance of B. cenocepacia (53.1%). Virulence markers were not consistently found among isolates. Genotyping did not identify identical patterns among different patients. B. cenocepacia was the most prevalent B. cepacia complex member among our patients, and cross-infection does not seem to occur among them.     

A comparison of depressed patients in randomized versus nonrandomized trials of antidepressant medication and psychotherapy

Background: Clinicians and researchers have questioned whether participants in randomized control trials (RCTs) are representative of patients in the broader clinical population. Method: We compared the demographic, clinical, and personality characteristics of patients (N=256) with major depressive disorder (MDD) receiving antidepressant medication or interpersonal therapy as part of an RCT investigation (n=105) versus in a clinic (n=151). The RCT and clinic protocols were identical with the exception of recruitment procedures (advertisement versus physician referral) and assignment to treatment (randomized versus nonrandomized). Results: No significant differences emerged between the RCT participants and clinic patients for sex, age, marital status, and education. Overall, clinic patients were no more severely depressed compared to RCT participants; there was, however, a significant interaction effect. Response rates were significantly higher for RCT participants versus clinic patients. Those participating in the RCT scored significantly higher on a personality scale assessing preference for novel experiences compared to those in the clinic. Conclusions: Differences in clinical and personality variables between those receiving treatment for MDD as part of an RCT versus in a clinic exist; however, the clinical significance of these differences remains in question, as these variables were unrelated to treatment outcome. Depression and Anxiety, 2009. © 2009 Wiley‐Liss, Inc.     

Tumor LOH analysis provides reliable linkage information for prenatal genetic testing of sporadic NF1 patients

The neurofibromatosis type 1 gene has one of the highest mutation rates in humans: about 50% of NF1 patients are de novo cases. Although direct mutation characterization has greatly improved over the past decade, in the context of clinical genetics services worldwide, there is still a significant number of patients for which, while fulfilling NF1 clinical criteria, no constitutive mutation is found at a desired time. This is particularly critical for prenatal genetic testing of sporadic cases. Here we describe the use of loss of heterozygosity information in neurofibromas to obtain linkage information on the affected NF1 haplotype, which may be applied for prenatal testing in sporadic patients. However, proper genetic counseling should be provided regarding the possibility of somatic mosaicism.