Home About us Contact
|
Home About us Contact | ||
|
|
||
Disease Leading (disease + leading)
Selected AbstractsNeural precursor cells from a fatal human motoneuron disease differentiate despite aberrant gene expressionDEVELOPMENTAL NEUROBIOLOGY, Issue 3 2007Niklas Pakkasjärvi Abstract Precursor cells of the human central nervous system can be cultured in vitro to reveal pathogenesis of diseases or developmental disorders. Here, we have studied the biology of neural precursor cells (NPCs) from patients of lethal congenital contracture syndrome (LCCS), a severe motoneuron disease leading to prenatal death before the 32nd gestational week. LCCS fetuses are immobile because of a motoneuron defect, seen as degeneration of the anterior horn and descending tracts of the developing spinal cord. The genetic defect for the syndrome is unknown. We show that NPCs isolated postmortem from LCCS fetuses grow and are maintained in culture, but display increased cell cycle activity. Global transcript analysis of undifferentiated LCCS precursor cells present with changes in EGF-related signaling when compared with healthy age-matched human controls. Further, we show that LCCS-derived NPCs differentiate into cells of neuronal and glial lineage and that the initial differentiation is not accompanied by overt apoptosis. Cells expressing markers Islet-1 and Hb9 are also generated from the LCCS NPCs, suggesting that the pathogenic mechanism of LCCS does not directly affect the differentiation capacity or survival of the cells, but the absence of motoneurons in LCCS may be caused by a noncell autonomous mechanism. © 2007 Wiley Periodicals, Inc. Develop Neurobiol, 2007 [source] Indications for non-transplant surgery in primary sclerosing cholangitisHPB, Issue 4 2005Bastian Domajnko Abstract Primary sclerosing cholangitis (PCS) is a progressive disease leading to secondary biliary cirrhosis. Patients are at increased risk of developing cholangiocarcinoma, which is usually diagnosed at an advanced stage. Treatment of PCS includes medical therapy, endoscopic biliary dilation, percutaneous transhepatic stenting, extrahepatic biliary resection and liver transplantation. The most effective management of primary sclerosing cholangitis before the onset of cirrhosis remains unclear. Non-transplant surgical procedures have a limited but defined role in patients with PCS. Resection of the extrahepatic biliary tree in symptomatic non-cirrhotic patients improves hyperbilirubinaemia and prolongs both transplant-free and overall survival when compared with non-operative dilation and/or stenting. Surgical resection may also definitively establish or exclude a diagnosis of cholangiocarcinoma in patients with dominant extrahepatic or perihilar strictures. Extrahepatic bile duct resection may also reduce the risk of cholangiocarcinoma. Extrahepatic biliary resection should be considered in selected non-cirrhotic patients with symptomatic biliary obstruction and dominant extrahepatic and/or perihilar strictures. Those patients in whom cholangiocarcinoma is suspected should also undergo resection. [source] A new scale to measure family members' perception of community health care services for persons with Huntington diseaseJOURNAL OF EVALUATION IN CLINICAL PRACTICE, Issue 3 2010Valmi D. Sousa PhD CNS-BC RN Abstract Rationale, aims, and objectives, Huntington disease (HD) is a progressive genetic brain disease leading to disruptive cognitive, behavioural and physical impairments. Persons with the condition and their caregivers need appropriate and accessible health care services to help them manage the disease adequately. The purpose of this study was to evaluate the psychometric properties of a new scale that measures family members' perception of community health care services (CHCS) for persons with HD. Methods, A methodological design was used to examine the initial reliability and dimensionality of the CHCS scale among 245 family members of persons with a diagnosis of HD. Data analysis consisted of computing Cronbach's , coefficients, calculating the 95% confidence interval for , and performing item-analysis and exploratory factor analysis. Results, Reliability of the scale based on Cronbach's , was 0.83. Factor analysis using principal component analysis and varimax rotation suggested that three interpretable factors underlie the scale. Factor 1, HD knowledge, had , = 0.82, eigenvalue of 4.67 and explained 33.42% of the variance; factor 2, HD community resources, had , = 0.62, eigenvalue of 1.68 and explained 12.02% of the variance; factor 3, individualized HD management, had , = 0.77, eigenvalue of 1.45 and explained 10.39% of the variance. Conclusions, Findings from this study provide evidence of both construct validity and internal consistency reliability of the CHCS scale. Further psychometric testing of the scale in other samples of family caregivers of persons with HD is warranted. [source] Yersinia ruckeri infections in salmonid fishJOURNAL OF FISH DISEASES, Issue 5 2007E Tobback Abstract Yersinia ruckeri is the causative agent of yersiniosis or enteric redmouth disease leading to significant economic losses in salmonid aquaculture worldwide. Infection may result in a septicaemic condition with haemorrhages on the body surface and in the internal organs. Despite the significance of the disease, very little information is available on the pathogenesis, hampering the development of preventive measures to efficiently combat this bacterial agent. This review discusses the agent and the disease it causes. The possibility of the presence of similar virulence markers and/or pathogenic mechanisms between the Yersinia species which elicit disease in humans and Y. ruckeri is also examined. [source] Nutritional factors associated with survival following enteral tube feeding in patients with motor neurone diseaseJOURNAL OF HUMAN NUTRITION & DIETETICS, Issue 4 2010A. Rio Abstract Background: Motor neurone disease (MND) is a progressive neurodegenerative disease leading to limb weakness, wasting and respiratory failure. Prolonged poor nutritional intake causes fatigue, weight loss and malnutrition. Consequently, disease progression requires decisions to be made regarding enteral tube feeding. The present study aimed to investigate the survival, nutritional status and complications in patients with MND treated with enteral tube feeding. Methods: A retrospective case note review was performed to identify patients diagnosed with MND who were treated with enteral tube feeding. A total of 159 consecutive cases were identified suitable for analysis. Patients were treated with percutaneous endoscopic gastrostomy (PEG), radiologically inserted gastrostomy (RIG) or nasogastric feeding tube (NGT). Nutritional status was assessed by body mass index (BMI) and % weight loss (% WL). Serious complications arising from tube insertion and prescribed daily energy intake were both recorded. Results: Median survival from disease onset was 842 days [interquartile range (IQR) 573,1263]. Median time from disease onset to feeding tube was PEG 521 days (IQR 443,1032), RIG 633 days (IQR 496,1039) and NGT 427 days (IQR 77,781) (P = 0.28). Median survival from tube placement was PEG 200 (IQR 106,546) days, RIG 216 (IQR 83,383) days and NGT 28 (IQR 14,107) days. Survival between gastrostomy and NGT treated patients was significant (P , 0.001). Analysis of serious complications by nutritional status was BMI (P = 0.347) and % WL (P = 0.489). Conclusions: Nutritional factors associated with reduced survival were weight loss, malnutrition and severe dysphagia. Serious complications were not related to nutritional status but to method of tube insertion. There was no difference in survival between PEG and RIG treated patients. [source] Medullary thyroid carcinoma and biomarkers: past, present and futureJOURNAL OF INTERNAL MEDICINE, Issue 1 2009W. Van Veelen Abstract. The clinical management of patients with persistent or recurrent medullary thyroid carcinoma (MTC) is still under debate, because these patients either have a long-term survival, due to an indolent course of the disease, or develop rapidly progressing disease leading to death from distant metastases. At this moment, it cannot be predicted what will happen within most individual cases. Biomarkers, indicators which can be measured objectively, can be helpful in MTC diagnosis, molecular imaging and treatment, and/or identification of MTC progression. Several MTC biomarkers are already implemented in the daily management of MTC patients. More research is being aimed at the improvement of molecular imaging techniques and the development of molecular systemic therapies. Recent discoveries, like the prognostic value of plasma calcitonin and carcino-embryonic antigen doubling-time and the presence of somatic RET mutations in MTC tissue, may be useful tools in clinical decision making in the future. In this review, we provide an overview of different MTC biomarkers and their applications in the clinical management of MTC patients. [source] Involvement of cystic fibrosis transmembrane conductance regulator (CFTR) in the pathogenesis of hydrosalpinx induced by Chlamydia trachomatis infectionJOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH (ELECTRONIC), Issue 6 2008Louis Chukwuemeka Ajonuma Abstract Background:, Genital Chlamydia (C) trachomatis infection has been recognized as the single most common cause of pelvic inflammatory disease leading to severe tubal damage, ectopic pregnancy, infertility and hydrosalpinx. However, the mechanism underlying the formation of hydrosalpinx induced by C. trachomatis infection remains largely unknown. We performed this study to determine the involvement of cystic fibrosis transmembrane conductance regulator (CFTR), a cAMP-activated chloride channel that regulates epithelial electrolyte and fluid secretion, in hydrosalpinx fluid formation. Methods:, Western blot analysis was used to determine CFTR expression in the hydrosalpinges that were seen on the ultrasound scans of infertile assisted reproduction treatment patients. Correlation with C. trachomatis infection was done by testing patients' sera for C. trachomatis immunoglobulin G antibody titer using a Capita enzyme-linked immunosorbent assay based kit. CFTR involvement was further verified in a rat C. trachomatis infection model and confirmed using CFTR mutant (CFTRtm1Unc) mice. Results:, Here we report on the up-regulated expression of CFTR in the hydrosalpinx tissues of infertile patients with detectable serum levels of C. trachomatis antibody (immunoglobulin G). In a rat model, increased CFTR expression and fluid accumulation could be observed in the uterine horns infected with C. trachomatis elementary bodies, which was reversed by antibiotics treatment. In C. trachomatis,infected CFTRtm1Unc mice, however, no detectable fluid accumulation was observed. Conclusion:, These findings suggest the involvement of CFTR in the pathogenesis of hydrosalpinx fluid formation and may provide grounds for a better treatment strategy to improve assisted reproduction treatment outcome in infertile patients with hydrosalpinx. [source] Cervico-facial necrotizing fasciitisORAL DISEASES, Issue 2 2009R Ord Necrotizing fasciitis of the cervical facial region is a rare entity that has seen an increasing prevalence in the last 20 years. It is most common in patients with an underlying systemic disease leading to immunosuppression, but can be seen in healthy adults and children. It is characterized by soft tissue destruction which is disproportionate to its clinical symptoms and signs, with rapid progression and fatal outcome, if not treated rapidly and radically. We present a review of the etio-pathogenesis and management of this challenging disease. [source] Definition of domain boundaries and crystallization of the SMN Tudor domainACTA CRYSTALLOGRAPHICA SECTION D, Issue 2 2003Remco Sprangers Spinal muscular atropy (SMA) is the major genetic disease leading to childhood mortality and is caused by mutations in or deletions of the smn1 gene. The human survival of motor neurons (SMN) protein encoded by this gene plays an important role in the assembly of snRNPs (small nuclear ribonucleoprotein complexes) via binding to the spliceosomal Sm proteins. The tails of these Sm proteins contain symmetrically dimethylated arginines that are recognized by the central SMN Tudor domain. To gain insight in the molecular basis of this specific interaction, the SMN Tudor domain has been crystallized. The rapid crystallization of the protein and the high stability of the crystals is facilitated by redefinition of domain boundaries based on NMR relaxation experiments and the previously determined solution structure. The crystals diffract to high resolution (1.8,Å) and a complete data set has been collected from a hexagonal crystal form (P61/P65), with unit-cell parameters a = b = 27.65, c = 110.30,Å, , = , = 90, , = 120°. Crystal soaks and co-crystallization with peptides derived from the Sm protein tails have been initiated. Molecular replacement with the NMR coordinates is under way. [source] Children with chronic organ failure possibly ending in organ transplantation: a survey in an Italian region of 5 000 000 inhabitantsACTA PAEDIATRICA, Issue 9 2008R Camilla Abstract Aim: The Italian Piedmont region sponsored in 2005 a population-based registry to assess the epidemiology of childhood chronic organ failure involving kidneys, liver, heart or lungs. Methods: Patients in chronic organ failure who were younger than 18 years were selected, and entered the registry when accomplishing the standard failure criteria for each organ. The cases were reported by the general paediatricians of the region and integrated with the data gathered by the Children University Hospital, a tertiary care centre. Results: In Piedmont (647 727 inhabitants < 18 years), a total of 146 children (217 cases per million of paediatric population) were found to be affected by chronic organ failure (mean age 10 years; range 0,17). The organ failure involved kidneys in 68 subjects (48%), liver in 24 (17%), heart in 21 (15%) and lungs in 28 (20%), and was severe in 32 subjects (6 on transplantation waiting list). The most represented disease leading to chronic renal failure was renal hypodysplasia (79%). Chronic liver failure was mostly caused by biliary atresia (30%), autoimmune hepatitis (25%) and Wilson's disease (21%). Dilated cardiomyopathy (62%) and surgically treated congenital cardiopathy were the two leading causes of chronic heart failure. The most represented disease leading to chronic lung failure was cystic fibrosis (89%). Conclusion: This is the first report of the literature focusing on the epidemiology of chronic organ failure in children encompassing a region of 4 000 000 inhabitants. This clinical condition is rare, but medically and socially very demanding not only in childhood but the life along, as most of these patients will need solid organ transplantation decades later. [source] | ||||||||||