Cerebral small vessel disease in pseudoxanthoma elasticum: three cases

BACKGROUND: Cerebral small vessel disease is rarely described in association with pseudoxanthoma elasticum (PXE), a hereditary connective tissue disorder with skin, eye and vascular manifestations. This autosomally inherited elastic tissue disease has been attributed to mutations in the ABCC6 gene located on chromosome 16p13.1. Different stroke mechanisms are suggested in PXE patients, arterial hypertension and accelerated atherosclerosis being the leading ones. CASE DESCRIPTIONS: Case 1: A 49-year-old man with history of mild hypertension presented with recurrent transient ischemic attacks. At the age of 42, evaluation for progressive visual loss and skin changes led to diagnosis of PXE. Brain magnetic resonance imaging (MRI) disclosed multiple lacunar infarctions and confluent periventricular white matter lesions (WML). Case 2: A 71-year-old woman with history of mild hypertension suffered right-sided stroke. Diagnosis of PXE was made at the age of 48 due to severe visual loss and skin changes. Brain MRI revealed multiple lacunar infarctions and subcortical ischemic leukoencephalopathy. Case 3: A 47-year-old woman with prominent skin changes and bilateral amblyopia developed right-sided weakness. Skin biopsy confirmed PXE. Several lacunar infarcts in deep white matter and pons were revealed on MRI. DISCUSSION: We present three patients with clinical and histopathological features of PXE who presented with multiple lacunar strokes, two with extensive confluent WML. These cases illustrate that PXE is a rare but significant risk factor for small vessel disease and stroke in patients of all age groups. Occlusive small vessel disease and subsequent lacunar infarcts and WML represent important PXE manifestations.     

Is violent method of suicide a behavioral marker of lifetime aggression?

OBJECTIVE: The main purpose of this study was to investigate whether the method of suicide is a valid behavioral marker of a lifetime history of aggression. METHOD: The authors applied the psychological autopsy method to investigate 310 individuals who committed suicide. They used structured clinical assessments and personality trait scales in interviews with family members of the deceased. RESULTS: Violent method was associated with a higher level of lifetime aggression and a higher level of impulsivity. In addition, violent method was associated with lifetime substance abuse or dependence and psychotic disorders. Controlling for age, sex, substance disorders, and other major psychopathology, the authors found that lifetime aggression and the interaction between impulsivity and aggressive behavior remained associated with violent method. CONCLUSIONS: These results support the use of violent method of suicide as a behavioral marker of a higher level of lifetime impulsive-aggressive behaviors.     

Does apoptosis occur in amyotrophic lateral sclerosis? TUNEL experience from human amyotrophic lateral sclerosis (ALS) tissues

The role that apoptosis plays in the pathogenesis of amyotrophic lateral sclerosis (ALS) is still unclear. From our autopsy samples, we have undertaken an effort to verify if apoptosis in ALS really occurs or if can at least be detected. The study was performed using TUNEL method for screening the apoptotic changes in the autopsy samples from 8 ALS cases compared with 16 control cases. No features of apoptosis (DNA cleavages) were noted in any of the investigated regions of the central nervous system in ALS cases as well as in controls. These preliminary results seem to support the reports, which deny the role of apoptosis in human ALS. The following investigations using additional methods will be performed for detection the apoptotic signals in ALS.     

Psoriatic arthritis: a retrospective study of 162 patients

AIM: The aim of our study was to determine the prevalence of psoriatic arthritis in the patients with psoriasis and to analyze retrospectively the results of a 34-year multidisciplinary management of the patients with psoriatic arthritis. METHODS: The study included 162 out of 183 treated patients with psoriatic arthritis, aged 48 +/- 15 years. All the patients satisfied the current diagnostic criteria for psoriasis and psoriatic arthritis according to the American College of Rheumatology. RESULTS: Psoriatic arthritis developed in 183 (9.3%) out of 1976 patients with psoriasis. Time interval for establishing the diagnosis was 4 years. A positive family history of the disease had 15.0% of the studied patients. Its onset was most often at 42 years of age in 70.4% of the cases, and 2 months to 59 years after the appearance of psoriasis. Psoriatic arthritis without psoriasis appeared in 1.8% of the patients. A severe form of arthritis had 64.2% of the patients, mainly the patients with scalp psoriasis (chi2 = 3.2; p < 0.05). Nail changes had 35% of the patients. Distal interphalangeal joints were involved in 63.6%, axial skeleton in 36.4%, oligoarthritis in 45.0%, polyarthritis in 55.0%, and mutilating form in 6.8% of the patients. Elevated Erythrocyte Sedimentation Rate was reveald in 61.7% of the patients. Immunoglobulin M (IgM) rheumatoid factor was altered in 4.3% of the patients. The human leukocyte antigen (HLA) typing in the 28 patients were: A2 32.0%, A3 18.0%, Al and A9 14.0%, A28 and A29 3.5%, B8 and B16 14.0%, B5 and B12 11.0%, B13, B15, B18, B27 and B35 7.0%. Radiologic changes were most often in hand and foot joints, less frequently in the knees and quite infrequently in hips and shoulders joints. Sacroiliitis was found in 46.4% of the patients. Psoriasis was treated with topical corticosteroids and salicylic ointments in all the patients, ultraviolet (PUVA therapy) in 5.6% and retinoids in 4.3% of them. Artrithis was treated with nonsteroidal anti-inflammatory drugs, with systemic corticosteroids 41.3% and with disease modified antirheumatic drugs, most frequently methotrexate, 59.9% of the patients. Radionuclide synovectomy was performed in 6.8%, surgery in 6.2% and physical therapy in all the patients. CONCLUSION: Psoriatic arthritis developed in 9.3% of the psoriatic patients. Time interval for establishing the diagnosis was long, and there were no specific laboratory findings. All the synovial joints could be involved in the psoriatic process. Scintigraphy should be used only in case of early suspected sacroiliitis. The treatment of psoriatic arthritis was the teamwork between the dermatologist, rheumatologist, physiatrist and orthopedic surgeon.     

Constructional apraxia in patients with closed head injury

INTRODUCTION: Constructional apraxia is a disorder characterized by an inability to join the elements into a unity. It has not been studied much in patients with closed head injury (CHI). METHODS: Forty-one patients with CHI were examined, of which 11 (26.83%) were with the right-sided, 12 (29.27%) with the left-sided, and 18 (43.90%) with bilateral lesion using the Wechsler Individual Intelligence Test (VITI) - Serbian version, Rey Complex Figure (RCF) test, Trail Making Test - TMT A and B, and the Wisconsin Card Sorting Test (WCST). RESULTS: Intelligence quotient (IQ) was significantly higher in the patients with the right-sided (95.27) and bilateral cerebral lesions (87.56) than in the left-sided (84.42). RCF scores did not show any significant difference regarding the side of the lesion, but was numerically the lowest scores were in patients with bilateral brain damage. Patients with left-sided lesions had the score of 30.63, right-sided of 28.68, and bilateral of 27.39. TMT B showed a significantly lower result in patients with the left-sided (196.50 seconds) and bilateral lesions (192.07 seconds) compared to the right-sided (140.14 seconds). WCST scores were not significantly different regarding the side of the lesion, but the absolute value of the categories was less than expected. CONCLUSION: Constructional apraxia was more frequently present in the patients with CHI than it was previously considered. The use of sensitive tests can show the presence of the disorder mainly in bilateral, but also in unilateral lesions.     

Cigarette smoking in military pilots and intima-media thickness of the carotid arteries

BACKGROUND: It is well known that smoking is associated with an increase in arterial wall thickness. However, most studies of this problem have been undertaken in age and sex heterogenous groups, as well as in patients with already present other conventional risk factors. The aim of this study was to assess the effect of cigarette smoking on arterial wall thickness of the common carotid artery in asymptomatic pilots. METHODS: The imaging of intima-media thickness of the posterior wall of the distal 1 cm of both common carotid arteries was performed using a B mode ultrasound device, in 39 pilots (37.05 +/- 6.66 years), for whom smoking was the single cardiovascular risk factor. Comparisons were made with 49 non-smokers (35.12 +/- 7.39 years). RESULTS: The posterior walls of both common carotid arteries were thicker in smokers (left, p < 0.05; right, p > 0,05). Intima-media thickness was significantly lower on the right side than on the left side in both smokers and non-smokers (p < 0.01). CONCLUSION: Cigarette smoking as the single cardiovascular risk factor was associated with the wall thickness of the carotid arteries in our study. This finding indicated that early atherosclerosis was already present in pilots-smokers entering middle age.     

Central effects of nafadotride, a dopamine D3 receptor antagonist, in rats. Comparison with haloperidol and clozapine

The aim of this study was to examine behavioral and biochemical effects of nafadotride, the new dopamine D3 receptor antagonist, and to compare it with haloperidol (dopamine D2 receptor antagonist) and clozapine (predominate dopamine D4 receptor antagonist). Each drug was injected to adult male Wistar rats intraperitoneally, each at a single dose and for 14 consecutive days. Thirty minutes after single or last injection of the examined drugs, the following behavioral parameters were recorded: yawning, oral activity, locomotion, exploratory activity, catalepsy and coordination ability. By HPLC/ED methods, we determined the effects of the examined antagonists on the levels of biogenic amines in striatum and hippocampus: dopamine (DA), 3,4-dihydroxyphenylacetic acid (DOPAC), homovanillic acid (HVA), 3-methoxytyramine (3-MT), 5-hydroxytryptamine (5-HT), 5-hydroxyindoleacetic acid (5-HIAA) and noradrenaline (NA). Additionally, DA and 5-HT synthesis rate was determined in striatum and 5-HT in hippocampus. The results of the study indicate that nafadotride, the dopamine D3 receptor antagonist, has a behavioral and biochemical profile of action different from that of haloperidol but partially similar to that of clozapine.     

Association studies of 5-HT2A and 5-HT2C serotonin receptor gene polymorphisms with prophylactic lithium response in bipolar patients

Lithium is one of the most commonly used drugs in the prophylaxis and treatment of bipolar disorder. The mechanisms of mood stabilization by lithium incorporate its effect on serotonergic neurotransmission. This paper investigates a relationship between response to lithium prophylaxis and polymorphisms in two genes: T102C of 5-HT2A receptor and G68C (Cys23Ser) of 5-HT2C serotonin receptor gene. Genotypes were estimated in 92 bipolar patients (39 males and 53 females) who have been taking lithium for at least 5 years. The patients were classified as excellent responders, partial responders and non-responders to lithium. The obtained results suggest that these polymorphisms may not be related to the degree of prophylactic lithium response.