Search results for "GENETICS"

The Global Campaign (GC) to Reduce the Burden of Headache Worldwide. The International Team for Specialist Education (ITSE)

2005

The social perception of headache, everywhere at low levels in industrialised countries, becomes totally absent in developing ones. Headache disorders came into the World Health Organization’s strategic priorities after publication of the 2001 World Health Report. Among the leading causes of disability, migraine was ranked 19th for adults of both sexes together and 12th for females. The Global Campaign (GC) to Reduce the Burden of Headache Worldwide was planned by the major international headache organizations together with WHO in order to identify and remove those cultural, social and educational barriers recognised as responsible factors for the inadequate treatment of headache disorders …

Beneficial Effect of Foot Plantar Stimulation in Gait Parameters in Individuals with Parkinson’s Disease

2020

New treatments based on peripheral stimulation of the sensory-motor system have shown to be promising in rehabilitation strategies for patients with neurological disorders, including Parkinson's disease (PD), especially in regards to reducing gait impairment, and hence, the incidence of falls. The aim of this study was to evaluate the change in several gait parameters measured by sensor inertial measurement in PD patients after acute plantar stimulation, under the distal phalanx of the big toe, and underneath the head of the first metatarsal joint of both feet, using a 3D printing insole. In order to assess whether the effects are selective for PD patients, we compared the effect of the tre…

Retinoblastoma and mosaic 13q deletion: a case report

2021

Abstract Background Patients with 13q-syndrome are at risk of retinoblastoma when the RB1 gene, located in the chromosomal band 13q14.2, is deleted. This syndrome is frequently associated with congenital malformations and developmental delay, although these signs could be mild. Mosaic 13q-deletion patients have been previously reported in the literature; their phenotype is variable, and they may not be recognized. Case presentation Retinoblastoma diagnosed in a child with 13q-mosaicism confirmed in blood, oral mucosa, healthy retina and retinoblastoma. A second RB1 hit is present exclusively in the retinoblastoma sample (RB1 c.958C>T p.Arg320Ter). Other detected molecular events in retin…

Patient reported outcomes of symptoms and quality of life among cancer patients treated with palliative pelvic radiation: a pilot study

2011

Published version of an article from the journal: BMC Research Notes. Also available from the publisher: http://dx.doi.org/10.1186/1756-0500-4-252 BACKGROUND:There is limited high-quality research investigating the efficacy of palliative radiation (PPR) with regard to symptoms and quality of life (QOL) among cancer patients with pelvic soft tissue tumors. As a result, clinicians are left with mainly retrospective studies, without reliable data on which to base treatment decisions. As a first step of a subsequent analysis of PPR's efficacy, we aimed to determine whether it is feasible to prospectively measure symptoms and QOL among patients treated with PPR. A secondary aim was to explore pa…

Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p

2000

We report on two sibs, both males, one born at 37 the other at 24 weeks of gestation, both with a syndrome similar to that seen in three sets of sibs by Gillessen-Kaesbach et al. [1993: Am J Med Genet 45:511–518]. Both propositi had polycystic kidneys and hepatic fibrosis indistinguishable from that seen in autosomal recessive polycystic kidney disease (ARPKD), and skeletal and facial anomalies. Skeletal abnormalities included “butterfly” vertebrae, square shape of pelvis, and brachymelia. The facial anomalies included hypertelorism, epicanthic folds, and anteverted nares. Additional external findings were apparently low-set ears and a short neck. Histopathological examination of the kidney…

Histochemische Methoden in der H�matologie

1955

Sirtuin-6-dependent genetic and epigenetic alterations are associated with poor clinical outcome in hepatocellular carcinoma patients

2013

Sirtuin 6 (SIRT6) is a member of the sirtuin family of NAD+–dependent deacetylases. Genetic deletion of Sirt6 in mice results in a severe degenerative phenotype with impaired liver function and premature death. The role of SIRT6 in development and progression of hepatocellular carcinoma is currently unknown. We first investigated SIRT6 expression in 153 primary human liver cancers and in normal and cirrhotic livers using microarray analysis. SIRT6 was significantly down-regulated in both cirrhotic livers and cancer. A Sirt6 knockout (KO) gene expression signature was generated from primary hepatoctyes isolated from 3-week-old Sirt6-deficient animals. Sirt6-deficient hepatocytes showed up-re…

Flare in axial spondyloarthritis. The dark side of the outcome

2016

Spondyloarthritis (SpA) is a chronic inflammatory rheumatic disease with many phenotypes,1 but the frame of the disease is still a matter of debate, particularly regarding the non-radiographic forms of axial SpA.2 ,3 The disease evolution may have several profiles, mainly related to the treatment strategy, balancing from periods of remission or low disease activity to flares of the disease. The recommended treatment strategies are supposed to be tailored to the disease activity, aiming to reach remission or low disease activity in a T2T strategy,4 with management of remission (reduction of dosage or increase in interval of administration), as well as treatment intensification in case of fla…

2005

Establishment and Characterization of a Continuous Human Chondrosarcoma Cell Line, ch-2879: Comparative Histologic and Genetic Studies with Its Tumor…

2003

Chondrosarcomas are malignant cartilage-forming tumors that represent the second most common malignant solid tumor of bone. These biologically poorly understood neoplasms vary considerably in clinical presentation and biologic behavior. Chemotherapy and radiation therapy are generally ineffective. Here we describe the establishment and characterization of a new human chondrosarcoma cell line named ch-2879, and we compare the cell line with its tumor of origin. The cell line was established from a recurrent grade 3 chondrosarcoma of the chest wall and characterized by growth kinetics and morphologic studies. Immunocytochemistry and RT-PCR were performed to examine the expression of cartilage…