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Variable Severity (variable + severity)
Selected AbstractsRett Syndrome and long-term disorder profileJOURNAL OF INTELLECTUAL DISABILITY RESEARCH, Issue 10 2008E. Smeets Since the identification of mutations in MECP2 in females with clinical Rett syndrome, numerous efforts have been made to understand phenotype-genotype relationships. Most of these studies were conducted by examining the type and localization of these mutations in the gene in relation to clinical severity. It seemed unsatisfactory, in view of the age range and variable severity, to look only at the type and localization of the mutation in MECP2 in trying to establish a phenotype/genotype relationship. Describing each RTT individual after a long term follow up and grouping females with the same disorder history and same MECP2 mutation is therefore appropriate. Complete clinical and molecular data were obtained on 103 females. The guidelines for reporting manifestations common in Rett syndrome were used in the evaluation of clinical severity. The individuals were grouped according to similar disorder profiles on long-term follow up. In a cohort of 103 females clinically diagnosed with Rett syndrome, 91 had a detectable MECP2 mutation. 60% still sit and walk. Hand use is preserved or reduced in 44%. Speech has been lost in the majority (87%). Epilepsy was problematic in about 30%. Scoliosis, severe kyphosis or a combination of both was present in 27%, needing surgery in 13%. Description of the profile of the disorder and long-term clinical history facilitated the grouping of females with the same MECP2 mutation and a similar history. This approach will contribute more to the understanding of the ongoing pathology in Rett syndrome relative to the specific character of the involved MECP2 mutation. Some examples of these disorder profiles will be discussed. [source] McGill Pain Questionnaire: A multi-dimensional verbal scale assessing postoperative changes in pain symptoms associated with severe endometriosisJOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH (ELECTRONIC), Issue 4 2009Elena Fabbri Abstract Background:, Objective evaluation of pelvic pain symptoms using a standard pain questionnaire is essential to assessing the treatment of endometriosis and related pain. Aim:, To evaluate the McGill Pain Questionnaire (MPQ) as a multi-dimensional verbal scale in providing information about chronic pelvic pain associated with endometriosis, before and after laparoscopic surgery. Methods:, Fifty-five women undergoing laparoscopy for severe endometriosis were asked to complete the MPQ before surgery and at the 6-month follow up. All patients presented with preoperative pain symptoms of variable severity. We obtained the pain indexes and studied their relation with: patients' characteristics (age, body mass index, parity, qualification, occupation); operative findings (number, site and size of endometriotic lesions and presence of pelvic adhesions); and postoperative evolution of variable MPQ pain indexes at the 6-month follow up. Results:, Median present pain index (PPI) (index of pain intensity), before surgical treatment was 3 (2,4): preoperative PPI was <2 in 25% of patients while 25% of patients had PPI > 4. Overall median PPI after surgical treatment was 1 (0,2): postoperative index of pain intensity was <1 in 50% of patients, >2 in 25% of patients while 25% of patients did not experience postoperative pain. Overall pain intensity significantly decreased after laparoscopic treatment of endometriosis (Wilcoxon test P < 0.0005). None of the patients' characteristics were found to be significantly correlated with the severity or improvement of preoperative pain at postoperative follow up (P > 0.05), and the intensity of preoperative pain was not correlated to any of the operative variables. There was a significant reduction in all individual MPQ pain indexes; however 18.2% of women did not show improvement of pain symptoms after laparoscopic surgery. An increasing endometrioma diameter was associated with a significant decrease in the difference in evaluative rank score of pain rating index between pain indexes at the 6-month follow up and preoperatively (P = 0.04, Spearman's rank correlation Rho = ,0.277). Conclusions:, MPQ appears to be useful as a multi-dimensional scale in describing patients' pain semiology and evaluating pain evolution after surgical treatment. However, due to the extreme variability of pain experience, MPQ results don't clarify the relationship between pain intensity and the severity of endometriosis. [source] Proliferation and differentation markers in snuff-induced oral mucosal lesionsJOURNAL OF ORAL PATHOLOGY & MEDICINE, Issue 5 2002Marina Merne Abstract Background: Regular use of snuff is known to cause whitish oral mucosal lesions of variable severity at the usual quid placement site. The main aim of this study was to elucidate cellular mechanisms involved in snuff-induced epithelial changes. Methods: Expression patterns for markers of cell proliferation (PCNA, Ki-67), cell cycle regulation (p53, p21), keratin changes (pankeratin, CK18, CK19), cell stress (HSP 70) and collagen type IV in 14 snuff-induced oral mucosal lesions and 12 control samples were analyzed by immunohistochemistry (IHC). Results: On light microscopy, all snuff-induced lesions were characterized by a hyperkeratinized and thickened epithelium. Some vacuolized cells, markers of cell degeneration, were frequently seen (in 9/14 of the samples) in the superficial layers in epithelia. Expression of PCNA and Ki-67 was found in a statistically significantly fewer cells in snuff-induced lesions (P < 0.001) than in the controls. This indicates that epithelia in snuff-induced lesions are not thickened as a result of increased cellular proliferation, but by protracted turnover of differentiating cells. Of cell cycle markers, p21 was found be up-regulated in 4/14 snuff-induced lesions, probably by p53-independent pathways. Only two snuff-induced lesions showed p53 positivity. However, the number of stained cells with p53 and p21 was not statistically different from that in controls. Expression of CK18, but not any alterations in CK19 expression, was seen in 5 of 14 snuff-induced lesions. Snuff also seems to stimulate the expression of collagen type IV, possibly by basal cells, as indicated by the thickened staining of the basal lamina. Conclusions: The findings of this study showing suppressed cellular proliferation and infrequent p53 dysfunction in snuff lesions may partly explain why dysplastic changes are seldom seen in mucosal lesions induced by the Scandinavian type of snuff. [source] Neurological dysfunction in dogs following attenuation of congenital extrahepatic portosystemic shuntsJOURNAL OF SMALL ANIMAL PRACTICE, Issue 12 2000P. L. C. Tisdall Eleven of 89 dogs (12 per cent) developed neurological signs within six days of surgical attenuation of a congenital extrahepatic portosystemic shunt. Neurological signs were not associated with hepatic encephalopathy or hypoglycaemia. Signs varied in severity from non-progressive ataxia (three dogs) to generalised motor seizures (four dogs), progressing to status epilepticus (three dogs). In a further four cases, ataxia and disorientation were treated vigorously with anticonvulsant medication, presumably preventing the development of seizures. Two dogs that developed status epilepticus died or were eventually euthanased. All other animals survived, although some had persistent neurological deficits. Postligation neurological complications were not prevented by gradual shunt attenuation. Prophylactic treatment with phenobarbitone (5 to 10 mg/kg preoperatively, followed by 3 to 5 mg/kg every 12 hours for three weeks) did not significantly reduce the incidence of neurological sequelae (2/31 [6 per cent] dogs with phenobarbitone vs 9/58 [16 per cent] without phenobarbitone; P = 0.2). However, no animal receiving phenobarbitone experienced generalised motor seizures or status epilepticus. In conclusion, these observations suggest that postligation neurological syndrome comprises a spectrum of neurological signs of variable severity. Perioperative treatment with phenobarbitone may not reduce the risk of neurological sequelae, but may reduce their severity. [source] The neuro-cardio-endocrine response to acute subarachnoid haemorrhageCLINICAL ENDOCRINOLOGY, Issue 5 2002Eric A. Espiner Summary objective Whereas cardiac hormones increase after subarachnoid haemorrhage (SAH), and may contribute to sodium wastage and hyponatraemia, there is controversy concerning the relative roles of atrial natriuretic peptide (ANP) vs. brain natriuretic peptide (BNP) and the factors initiating their secretion. Noting previous work linking stress hormone responses with cardiac injury after SAH, we have studied responses in stress hormones, markers of cardiac injury and the temporal changes in ANP and BNP and related them to changes in sodium status post ictus and during recovery from acute SAH. design, patients, measurements Eighteen patients with verified SAH of variable severity were studied in a single unit for a 14-day period post ictus under controlled conditions of sodium and fluid intake. All received a standardized protocol of daily dexamethasone and nimodipine throughout the study. Severity was graded using criteria of Hess and Hunt at admission. Stress hormones (AVP, catecholamines and admission plasma cortisol), markers of cardiac injury (ECG and daily plasma troponin T) and cardiac hormones (ANP and BNP) were measured daily and related to severity, plasma sodium and renin,aldosterone activity. Hormone levels (ANP, BNP and endothelin) in cerebrospinal fluid (CSF) were also measured in nine patients. results Intense neurohormonal activation (AVP, cortisol and catecholamines) at admission was associated with increased levels of both plasma ANP and BNP whereas levels in CSF were unaffected. In individual patients plasma levels of ANP and BNP were strongly correlated (P < 0·001). Cardiac events (abnormal ECG and/or elevated troponin) occurred in six of seven patients graded severe but neither stress hormones nor cardiac peptides differed significantly in patients with mild (n = 11) vs. severe (n = 7) SAH. During the course of a progressive fall in plasma sodium concentration (P = 0·001), there was a delayed activation of renin,aldosterone which was inversely correlated with declining levels of plasma ANP/BNP (P < 0·002). conclusions Excessive secretion of both ANP and BNP occurs in all patients after acute subarachnoid haemorrhage and is unrelated to severity, stress hormone activation or markers of cardiac injury. Inhibition of renin,aldosterone by cardiac hormones may impair renal sodium conservation and contribute to developing hyponatraemia. In the absence of evidence for activation of natriuretic peptides within the brain, the prompt and consistent increase in both ANP and BNP strongly supports the view that the heart is the source of increased natriuretic peptide secretion after acute subarachnoid haemorrhage. [source] | ||||||||||