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showing 10 items of 10618 documents
Genetics and Beyond – The Transcriptome of Human Monocytes and Disease Susceptibility
2010
BACKGROUND: Variability of gene expression in human may link gene sequence variability and phenotypes; however, non-genetic variations, alone or in combination with genetics, may also influence expression traits and have a critical role in physiological and disease processes. METHODOLOGY/PRINCIPAL FINDINGS: To get better insight into the overall variability of gene expression, we assessed the transcriptome of circulating monocytes, a key cell involved in immunity-related diseases and atherosclerosis, in 1,490 unrelated individuals and investigated its association with >675,000 SNPs and 10 common cardiovascular risk factors. Out of 12,808 expressed genes, 2,745 expression quantitative trait …
Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy
2009
The exstrophy-epispadias complex (EEC) comprises a spectrum of urogenital anomalies in which part or all of the distal urinary tract fails to close. The present study aimed to identify microaberrations characterized by loss or gain of genomic material that contribute to the EEC at a genome-wide level. Molecular karyotyping, utilizing 549,839 single nucleotide polymorphisms (SNPs) with an average spacing of 5.7 kilobases, was performed to screen an initial cohort of 16 patients with non-syndromic EEC. A de novo microduplication involving chromosomal region 22q11.21 was identified in one patient with classic exstrophy of the bladder (CBE). Subsequent multiplex ligation-dependent probe amplifi…
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy (APECED) in Sicily: confirmation that R203X is the peculiar AIRE gene mutation.
2011
Background: Autoimmune polyendocrinopathycandidiasis-ectodermal-dystrophy (APECED), also known as autoimmune polyendocrine syndrome type 1 (APS-1) (OMIM 240300), is a very rare disease. Accepted criteria for diagnosis require the presence of at least 2 of 3 major clinical features: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (CH), and Addison's disease (AD). Aim: We analyzed AIRE gene mutations and genotype-phenotype correlation in APECED patients originating from Sicily and in their relatives. Subjects and methods: In 4 patients, clinical evaluations, genetic analysis of AIRE, and APECED-related autoantibodies were performed. Results: Two patients carried the mutati…
Clock genes beyond the clock: CLOCK genotype biases neural correlates of moral valence decision in depressed patients
2007
Gene polymorphisms in the mammalian biological clock system influence individual rhythms. A single nucleotide polymorphism (SNP) in the 3' flanking region of CLOCK (3111 T/C; rs1801260) influenced diurnal preference in healthy humans and caused sleep phase delay and insomnia in patients affected by bipolar disorder. Genes of the biological clock are expressed in many brain structures other than in the 'master clock' suprachiasmatic nuclei. These areas, such as cingulate cortex, are involved in the control of many human behaviors. Clock genes could then bias 'nonclock' functions such as information processing and decision making. Thirty inpatients affected by a major depressive episode under…
Flow cytometric analysis of glyoxalase-1 expression in human leukocytes.
2011
Altered glyoxalase-1 (GLO-1) activity and expression is associated with the development of late diabetic complications, malignancy and oxidative stress- and aging-related diseases. In the present study, we developed a flow cytometry method for GLO-1 detection in human leukocytes isolated from peripheral blood samples to investigate GLO-1 expression in leukocyte subsets from type 1 and 2 diabetes mellitus patients (n = 11) and healthy subjects (n = 8). The flow cytometry analysis of GLO-1 in leukocytes showed that expression index of GLO-1-positive cells was slightly increased in mononuclear leukocytes from diabetic patients. This result correlated with the increase in GLO-1 activity in the …
Disentangling common and specific neural subprocesses of response inhibition.
2012
article i nfo Response inhibition is disturbed in several disorders sharing impulse control deficits as a core symptom. Since response inhibition is a cognitively and neurally multifaceted function which has been shown to rely on differing neural subprocesses and neurotransmitter systems, further differentiation to define neurophys- iological endophenotypes is essential. Response inhibition may involve at least three separable cognitive sub- components, i.e. interference inhibition, action withholding, and action cancelation. Here, we introduce a novel paradigm - the Hybrid Response Inhibition task - to disentangle interference inhibition, action withholding and action cancelation and their…
Treatment of tension-type headache with articulatory and suboccipital soft tissue therapy: A double-blind, randomized, placebo-controlled clinical tr…
2013
This study researches the effectiveness of two manual therapy treatments focused on the suboccipital region for tension-type headache. A randomized double-blind clinical trial was conducted over a period of four weeks with a follow-up at one month. Eighty-four patients with a mean age of 39.7 years (SD 11.4) with tension-type headache were assigned to 4 groups which included the following manual therapy treatment: suboccipital soft tissue inhibition; occiput-atlas-axis global manipulation; combination of both techniques; and a control group. The primary assessment consisted of collecting socio-demographic data and headache characteristics in a one-month base period, data such as age, gender…
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
2000
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of the elbows and Achilles tendons, slowly progressive muscle wasting and weakness, and life-threatening cardiomyopathy with conduction blocks. We recently identified LMNA encoding two nuclear envelope proteins, lamins A and C, to be implicated in the autosomal dominant form of EDMD. Here, we report on the variability of the phenotype and spectrum of LMNA mutations in 53 autosomal dominant EDMD patients (36 members of 6 families and 17 sporadic cases). Twelve of the 53 patients showed cardiac involvement exclusively, although the remaining 41 all showed muscle weakness and contractures. We were able to identify …
Idendity development, coping, and adjustment in emerging adults with a chronic illness: the sample case of type 1 diabetes
2008
Abstract Purpose The present study focused on identity development in emerging adults (aged 18–30 years) with type 1 diabetes. The three study aims were to examine the following: (1) whether identity development was affected by having diabetes, as compared with development in a nondiabetic sample; (2) how identity development was related to depressive symptoms, coping with diabetes, and diabetes-related problems in the diabetic sample; and (3) whether the pathways from identity development to problems with diabetes and depressive symptoms were mediated through coping strategies in the diabetic sample. Methods A total of 194 emerging adults with type 1 diabetes and 344 nondiabetic emerging a…
"Come on, Say Something, Dad!": Communication and Coping in Fathers of Diabetic Adolescents
2002
Objective: To investigate fathers’ coping and communication behavior in families with a healthy or a diabetic adolescent. Method: Fathers of diabetic adolescents and healthy adolescents (N 134) were investigated longitudinally with respect to their non-illness-specific coping behavior, their perceptions of family climate, and communicative behavior in solving a joint family task. Data were obtained through questionnaires and content analysis of recordings of verbal communication activity. Results: Based on questionnaire data, few differences were found between diabetic and healthy adolescents’ fathers’ styles of coping with non-illness-specific family problems over time. However, several si…