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Severe Patients (severe + patient)
Selected AbstractsStudy of mutations in Jordanian patients with haemophilia A: identification of five novel mutationsHAEMOPHILIA, Issue 1 2010A. AWIDI Summary., Haemophilia A (HA) is an X-linked recessive bleeding disorder caused by mutations in the factor VIII gene (F8), which encodes factor VIII (FVIII) protein, a plasma glycoprotein, that plays an important role in the blood coagulation cascade. In the present study, our aim was to identify F8 gene mutations in HA patients from Jordan. One hundred and seventy-five HA patients from 42 unrelated families were included in this study. Among these patients, 117 (67%) had severe HA, 13 (7%) had moderate HA and 45 (26%) had mild HA. Severe patients were first tested for intron-22 inversion using long range polymerase chain reaction (PCR), then negative patients were tested for intron-1 inversion using PCR. Sequencing for the entire F8 gene was performed for all severe HA patients who were found negative for intron-22 and -1 inversions and it was also performed for moderate and mild HA patients. HA causative mutations were identified in all patients. Intron-22 and -1 inversions were detected in 52% and 2% of families respectively. Beside these two mutations, 19 different mutations were identified, which include 15 missense and four frameshift mutations. Five novel mutations were identified including one frameshift and four missense mutations. No large deletions or nonsense mutations were detected in patients who participated in this study. Only 17 patients with severe HA were found positive for FVIII inhibitors. The data presented will play an important role for genetic counselling and health care of HA patients in Jordan. [source] An exploration of anger phenomenology in multiple sclerosisEUROPEAN JOURNAL OF NEUROLOGY, Issue 12 2009U. Nocentini Background and purpose:, Multiple sclerosis (MS) patients are often emotionally disturbed. We investigated anger in these patients in relation to demographic, clinical, and mood characteristics. Patients and methods:, About 195 cognitively unimpaired MS patients (150 relapsing,remitting and 45 progressive) were evaluated with the State Trait Anger Expression Inventory, the Chicago Multiscale Depression Inventory, and the State Trait Anxiety Inventory. The patients' anger score distribution was compared with that of the normal Italian population. Correlation coefficients among scale scores were calculated and mean anger scores were compared across different groups of patients by analysis of variance. Results:, Of the five different aspects of anger, levels of withheld and controlled Anger were respectively higher and lower than what is expected in the normal population. Although anger was correlated with anxiety and depression, it was largely independent from these mood conditions. Mean anger severity scores were not strongly influenced by individual demographic characteristics and were not higher in more severe patients. Conclusions:, The presence of an altered pattern of anger, unrelated to the clinical severity of MS, suggests that anger is not an emotional reaction to disease stress. An alteration of anger mechanisms might be a direct consequence of the demyelination of the connections among the amygdale, the basal ganglia and the medial prefrontal cortex. [source] A new approach to the qualitative evaluation of functional disability in dementiaINTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY, Issue 11 2003X. Kurz Abstract Background Dementia patients suffer from the progressive deterioration of cognitive and functional abilities. Instrumental disabilities usually appear in the earlier stages of the disease while basic disabilities appear in the more advanced stages. In order to differentiate between mild, moderate and severe patients both instrumental and basic functional disabilities should be taken into account simultaneously. Objectives The objective of this study was to find a new method for classifying dementia patients based on their disabilities by using a basic and an instrumental Activities of Daily Living (ADL) scale. Methods Functional disability was assessed in a Belgian cohort of dementia patients using the Katz and Lawton Instrumental Activities of Daily Living (IADL) scales. A k -means derived clustering method allocated patients to disability clusters according to their Katz and Lawton scores. In order to validate the classification, we compared socio-demographic, clinical and costs parameters between the groups. Results The clustering method allocated patients between three clusters: dependent, non-dependent with instrumental functional disability (ND-IFD) and non-dependent. Dependence, as defined by these clusters, significantly correlates with age, residential setting, MMSE, patient's quality of life and costs. Conclusion This new classification of patients suffering from dementia will provide better understanding of functional disabilities and will complement the evaluation of disease severity based on cognitive function. Copyright © 2003 John Wiley & Sons, Ltd. [source] Comparison of Short Form-36 Health Survey and Nottingham Health Profile in moderate to severe patients with COPDJOURNAL OF EVALUATION IN CLINICAL PRACTICE, Issue 4 2008Sevgi Ozalevli Abstract Objective, To compare the health-related quality of life (HRQoL) assessed by Short Form-36 Health Survey (SF-36) and Nottingham Health Profile (NHP) on the basis of lung function and exercise capacity parameters in patients with moderate to severe chronic obstructive pulmonary disease (COPD). Methods and materials, The investigation was a prospective, quality-of-life survey and cross-sectional study of 130 consecutive COPD patients. The NHP and SF-36 as generic HRQoL instruments, the Chronic Respiratory Disease questionnaire (CRQ) as a disease-specific HRQoL instrument and 6-minute walking test, severity of dyspnea, leg fatigue and lung function, were the measurements and instruments used in the study. Results, It was determined that the subscales of both questionnaires were generally related with the FEV1, walking distance, CRQ, severity of dyspnea and leg fatigue values (P < 0.05). The much higher correlation coefficient was determined between these parameters and NHP compared with the SF-36. Only NHP was found to be correlated with the age, body mass index and smoking consumption (P < 0.05). Conclusions, The stronger relation of NHP with the clinical and physical parameters of the patients compared with that of SF-36 may be associated with the increased sensitivity of NHP to the clinical state owing to the increasing respiratory symptoms of our old patients with moderate to severe obstruction and/or the more intelligible and easy-to-respond nature of NHP compared with SF-36. [source] A Haplotype of the DRD1 Gene Is Associated With Alcohol DependenceALCOHOLISM, Issue 4 2008P. Batel Background:, The D1 dopamine receptor has been involved in a number of brain functions, including motor control, inattentive symptoms and reward and reinforcement mechanisms. Indeed, DRD1 antagonists may reduce cocaine-seeking behavior and the acquisition of cocaine-cue associations. The D1.1/r4532 marker of the DRD1 gene has been associated with a large set of phenotypes including addictive behaviors, but none with alcohol dependence per se. Methods:, We analyzed a population of 134 patients with alcohol dependence, also assessing more homogeneous (severe) phenotypes, comparing this sample with a healthy control population, assessing two SNPs within the DRD1 gene in order to depict the role of DRD1 polymorphisms and haplotypes. Results:, The T allele of the rs686 polymorphism within DRD1 gene was significantly more frequent in patients with alcohol dependence (p = 0.0008), with a larger excess for patients with severe dependence (p = 6 × 10,6), and even more for patients with severe complications such as withdrawal seizures (p = 7 × 10,7). A specific haplotype rs686*T-rs4532*G within the DRD1 gene was significantly more precisely associated with alcohol dependence in our sample (p = 5 × 10,6). Conclusions:, Even though chance finding cannot be ruled out, convergent evidence is given that the DRD1 gene is a susceptibility gene in alcohol dependence, regarding the fact that relying on more homogeneous phenotypes (i.e., more severe patients) and more informative genetic markers (i.e., haplotypes) reinforce the initial association. [source] Lipoxins in asthma: potential therapeutic mediators on bronchial inflammation?ALLERGY, Issue 10 2004C. Bonnans Arachidonic acid metabolism represents an important source of mediators with ambivalent actions. Among these, lipoxins (LXs) are the first agents identified and recognized as anti-inflammatory endogenous lipid mediators, which are involved in the resolution of inflammation and are present in the airways of asthmatic patients. Lipoxins result mainly from the interaction between 5 and 15-lipoxygenases (LO) and their levels are modulated by the degree of bronchial inflammation as well as by the long-term glucocorticoid treatments. In the airways, LX synthesis is higher in mild asthmatics than in severe asthmatics, whereas in vitro chemokine release inhibition by LXs is more effective in cells from severe asthmatics than from mild asthmatics. LipoxinA4 effects on interleukin (IL)-8 released by blood mononuclear cells and on calcium influx in epithelial cells are mediated by the specific receptor ALX. Lipoxin generation by lung epithelial cells depends mainly on 15-LO activity. Mild asthmatics present higher 15-LOb expression at the epithelium level than severe patients, whereas the LX deficit in severe asthma is associated with an up-regulation of the 15-LOa expressions. Therefore, bronchial epithelial cells become a target for therapeutic intervention and LXs represent a potential therapeutic solution for bronchial inflammation resolution in asthma. [source] Local injection of botulinum toxin A for palmar hyperhidrosis: Usefulness and efficacy in relation to severityTHE JOURNAL OF DERMATOLOGY, Issue 6 2008Noriko YAMASHITA ABSTRACT Botulinum toxin A is widely used in Europe and the USA for the treatment of localized hyperhidrosis, and its efficacy has been recognized. In this study, botulinum toxin A (Botox) was locally injected at 30 sites (2 U/injection) on the right palm in 27 patients with palmar hyperhidrosis (14 severe patients, 13 mild patients), and the results confirmed the efficacy of injection. The amount of sweat was then quantified for the left and right hands every month after local injection. The quantity of sweat on the treated hand was approximately one-fifth that on the untreated hand. In addition, the quantity of sweat on the untreated hand decreased slightly. Over time, the quantity of sweat on the treated hand increased slightly, but the quantity of sweat on the treated hand at 6 months after injection was less than half that before injection, and there were significant differences before and after injection. In the present study, severe sweating was defined as 1 mg/cm2/min or more and mild sweating as less than 1 mg/cm2/min, and the therapeutic effects of botulinum toxin A were analyzed in relation to severity. When compared to the mild cases, the quantity of sweat remained higher in the severe cases after botulinum toxin A therapy. Therefore, to achieve satisfactory effects in severe cases, it would be necessary to increase the number of injection sites, as well as injection dose. [source] Abnormal respiratory-related evoked potentials in untreated awake patients with severe obstructive sleep apnoea syndromeCLINICAL PHYSIOLOGY AND FUNCTIONAL IMAGING, Issue 1 2009Christine Donzel-Raynaud Summary Aim:, Obstructive sleep apnoeas generate an intense afferent traffic leading to arousal and apnoea termination. Yet a decrease in the sensitivity of the afferents has been described in patients with obstructive sleep apnoea, and could be a determinant of disease severity. How mechanical changes within the respiratory system are processed in the brain can be studied through the analysis of airway occlusion-related respiratory-related evoked potentials. Respiratory-related evoked potentials have been found altered during sleep in mild and moderate obstructive sleep apnoea syndrome, with contradictory results during wake. We hypothesized that respiratory-related evoked potentials' alterations during wake, if indeed a feature of the obstructive sleep apnoea syndrome, should be present in untreated severe patients. Methods:, Ten untreated patients with severe obstructive sleep apnoea syndrome and eight matched controls were studied. Respiratory-related evoked potentials were recorded in Cz-C3 and Cz-C4, and described in terms of the amplitudes and latencies of their components P1, N1, P2 and N2. Results:, Components amplitudes were similar in both groups. There was no significant difference in P1 latencies. This was also the case for N1 in Cz-C3. In contrast, N1 latencies in Cz-C4 were significantly longer in patients with obstructive sleep apnoea syndrome [median 98 ms (interquartile range 16·00) versus 79·5 ms (5·98), P = 0·015]. P2 and N2 were also significantly delayed, on both sides. Conclusions:, The cortical processing of airway occlusion-related afferents seems abnormal in untreated patients with severe obstructive sleep apnoea syndrome. This could be either a severity marker and/or an aggravating factor. [source] | ||||||||||