Search results for "disorder"

Long-term functional and psychological recovery in a population of acute respiratory distress syndrome patients treated with VV-ECMO and in their car…

2019

Background Acute respiratory distress syndrome (ARDS) survivors are affected with long-term physical/mental impairments, with improvements limited mostly to the first year after intensive care (ICU) discharge. Furthermore, caregivers of ICU patients exhibit psychological problems after family-member recovery. We evaluated the long-term physical and mental recovery of ARDS survivors treated with veno-venous extracorporeal membrane oxygenation (VV-ECMO), and the long-term psychological impact on their caregivers. Methods Single-center prospective evaluation of a retrospective cohort of 75 ARDS patients treated with VV-ECMO during a seven-year period (25.10.2009-11.08.2016). Primary outcomes w…

Single-Nucleotide Polymorphism Array-Based Karyotyping of Acute Promyelocytic Leukemia

2014

Acute promyelocytic leukemia (APL) is characterized by the t(15;17)(q22;q21), but additional chromosomal abnormalities (ACA) and other rearrangements can contribute in the development of the whole leukemic phenotype. We hypothesized that some ACA not detected by conventional techniques may be informative of the onset of APL. We performed the high-resolution SNP array (SNP-A) 6.0 (Affymetrix) in 48 patients diagnosed with APL on matched diagnosis and remission sample. Forty-six abnormalities were found as an acquired event in 23 patients (48%): 22 duplications, 23 deletions and 1 Copy-Neutral Loss of Heterozygocity (CN-LOH), being a duplication of 8(q24) (23%) and a deletion of 7(q33-qter) (…

Smoking does not impact social and non-social cognition in patients with first episode psychosis.

2018

Abstract Background Many studies having shown significant improvements in non-social and social cognitive performance in smoking FEP patients compared to non-smoking FEP patients. The findings are controversial. This study analyzed the effects of tobacco use on non-social and social cognitive function in a large group of FEP patients and a matched healthy control group. Methods A sample of 335 patients with FEP and 253 healthy controls was divided into four subgroups: control tobacco users (CTU), control non-tobacco users (CNTU), patient tobacco users (PTU) and patient non-tobacco users (PNTU). Demographic variables, tobacco use variables (presence or absence, frequency and duration of toba…

Adjustment disorder as proposed for ICD-11: Dimensionality and symptom differentiation

2014

Although Adjustment Disorder as a diagnostic category is widely used in clinical practice it is critically discussed that it has not been conceptualized as a category with unique symptoms. Hence, the conceptualization of Adjustment Disorder is subject to substantive change in ICD-11 including core symptoms and additional features in a uni-faceted concept. Adjustment Disorder was assessed with a self-rating instrument in a representative sample of the German general population (N=2512). Confirmatory factor analyses (CFA) were applied to test the dimensionality of symptoms according to the new diagnostic concept. Latent class analysis (LCA) was applied to test whether there are distinguishabl…

Behavioral Precursors to Accidents and Resulting Physical Impairment

1995

The main goal of the study was to determine, within a model of emotional and behavioral regulation, if there are developmental precursors to accidents and resulting physical impairment. Data collected at ages 8 and 14 with 147 males and 142 females using peer nomination and teacher rating were related to the number of types of accidents the subjects had been in and impairment as a result of an accident by the age of 27 when the subjects were interviewed on their health. The results showed that 44% of the men and 14% of the women had been in an accident. Severe effects on health were obtained for 19% of the men and 5% of the women. Accidents and impairment were most frequent among individual…

PORCN mutations in focal dermal hypoplasia: coping with lethality.

2009

Contains fulltext : 81709.pdf (Publisher’s version ) (Closed access) The X-linked dominant trait focal dermal hypoplasia (FDH, Goltz syndrome) is a developmental defect with focal distribution of affected tissues due to a block of Wnt signal transmission from cells carrying a detrimental PORCN mutation on an active X-chromosome. Molecular characterization of 24 unrelated patients from different ethnic backgrounds revealed 23 different mutations of the PORCN gene in Xp11.23. Three were microdeletions eliminating PORCN and encompassing neighboring genes such as EBP, the gene associated with Conradi-Hunermann-Happle syndrome (CDPX2). 12/24 patients carried nonsense mutations resulting in loss …

Carbohydrate-deficient glycoprotein syndromes: The Italian experience

2000

Functional characterization of hepatocytes for cell transplantation: customized cell preparation for each receptor.

2009

The first indication of hepatocyte transplantation is inborn liver-based metabolic disorders. Among these, urea cycle disorders leading to the impairment to detoxify ammonia and Crigler-Najjar Syndrome type I, a deficiency in the hepatic UDP-glucuronosyltransferase 1A1 present the highest incidence. Metabolically qualified human hepatocytes are required for clinical infusion. We proposed fast and sensitive procedures to determine their suitability for transplantation. For this purpose, viability, attachment efficiency, and metabolic functionality (ureogenic capability, cytochrome P450, and phase II activities) are assayed prior to clinical cell infusion to determine the quality of hepatocyt…

Disturbed brain activation during a working memory task in drug-naive adult patients with ADHD.

2010

Neuroimaging studies in attention-deficit/hyperactivity disorder (ADHD) have shown abnormalities in several brain areas including the frontostriatal circuitry and were mostly conducted in children and adolescents. We investigated 30 never-medicated adult ADHD patients (16 males) and 30 matched healthy control individuals. Functional magnetic resonance imaging was acquired during a working memory paradigm (n-back). Group activation maps and group differences of activation were calculated using voxel-based analyses. The generic activation pattern was more extended in the control group. In ADHD patients, significantly decreased activation was found in the right inferior parietal cortex. Distur…

Linking planning performance and gray matter density in mid-dorsolateral prefrontal cortex: Moderating effects of age and sex

2012

Abstract Planning of behavior relies on the integrity of the mid-dorsolateral prefrontal cortex (mid-dlPFC). Yet, only indirect evidence exists on the association of protracted maturation of dlPFC and continuing gains in planning performance post adolescence. Here, gray matter density of mid-dlPFC in young, healthy adults (18–32 years) was regressed onto performance on the Tower of London planning task while accounting for moderating effects of age and sex on this interrelation. Multiple regression analysis revealed an association of planning performance and mid-dlPFC gray matter density that was especially strong in late adolescence and early twenties. As expected, for males better plannin…