Search results for "OTR"

Missense PANK2 mutation without "eye of the tiger" sign: MR findings in a large group of patients with pantothenate kinase-associated neurodegenerati…

2011

Purpose: To present some unusual MR findings in a group of patients from the south-west of the Dominican Republic suffering from Pantothenate Kinase Associated Neurodegeneration (PKAN). Materials and Methods: Twenty patients and one preclinical case homozygous for the PANK2 mutation, 13 heterozygous gene carriers and 14 healthy volunteers were scanned prospectively using a 3 Tesla system. Results: All patients showed the typical signal reduction within the globus pallidus and the substantia nigra. A surprising finding was the absence of the bright spot (“tiger's eye”) in the medial part of the pallidum in 6 patients, but not in the preclinical case. Both fractional anisotropy (FA) and mean …

DNA-fragmentation and apoptosis-related proteins of muscle cells in motor neuron disorders

2009

Apoptosis has been described as one of the mechanisms of muscle fiber loss in infantile spinal muscular atrophy. In order to investigate if muscle fiber-apoptosis plays a role in other denervating disorders as well, we studied DNA-fragmentation, a hallmark of apoptosis, by the TUNEL-method and, moreover, the expression patterns of apoptosis-related proteins in 2 patients suffering from ALS and in 6 patients with polyneuropathy. We identified DNA-cleavage in muscle fibers of all these patients. Furthermore, we found strong expression of bax and ICE promoting apoptosis in muscle fibers. However, also strong expression of the anti-apoptotic factor bcl-2 was found. Our findings indicate that de…

Transfusional Hemochromatosis: Quantitative Relation of MR Imaging Pituitary Signal Intensity Reduction to Hypogonadotropic Hypogonadism

2000

To assess the relationship between magnetic resonance (MR) imaging pituitary signal intensity reduction in patients with transfusional hemochromatosis and the clinical manifestation of hypogonadotropic hypogonadism.Pituitary MR imaging at 0.5 T was performed in 38 consecutive patients affected by secondary hemochromatosis and in 20 healthy volunteers. Serum ferritin levels were estimated in the affected population. Twenty (53%) of the 38 patients had hypogonadotropic hypogonadism diagnosed. Pituitary-to-fat signal intensity ratios were calculated from coronal gradient-echo (GRE) T2*-weighted MR images. The relationship between the quantitative reduction of the pituitary-to-fat signal intens…

Sequential treatment of ADHD in mother and child (AIMAC study): importance of the treatment phases for intervention success in a randomized trial

2018

Abstract Background The efficacy of parent-child training (PCT) regarding child symptoms may be reduced if the mother has attention-deficit/hyperactivity disorder (ADHD). The AIMAC study (ADHD in Mothers and Children) aimed to compensate for the deteriorating effect of parental psychopathology by treating the mother (Step 1) before the beginning of PCT (Step 2). This secondary analysis was particularly concerned with the additional effect of the Step 2 PCT on child symptoms after the Step 1 treatment. Methods The analysis included 143 mothers and children (aged 6–12 years) both diagnosed with ADHD. The study design was a two-stage, two-arm parallel group trial (Step 1 treatment group [TG]: …

Cumyl-PEGACLONE: A comparatively safe new synthetic cannabinoid receptor agonist entering the NPS market?

2018

Non-Immune Goiter and Hypothyroidism in a 19-Week Fetus: A Plea for Conservative Treatment

2009

Hypothyroidism was documented by cordocentesis at 19 weeks in a fetus with non-immune goiter. Intra-amniotic thyroxine was injected at 25 weeks when amniotic fluid volume increased. Psychomotor outcome was normal. We argue that intra-amniotic thyroxine should not be used to treat the hypothyroidism but only to correct the development of polyhydramnios.

Predictive value for disease progression of serum thyroglobulin levels measured in the postoperative period and after (131)I ablation therapy in pati…

2004

The aim of our study was to evaluate and compare in thyroid cancer patients the predictive value for disease progression of thyroglobulin (Tg) levels measured under thyroid-stimulating hormone (TSH) stimulation, in the postoperative period just before (131)I ablative therapy and at the time of control 6-12 mo later.Two-hundred twelve consecutive patients treated for a well-differentiated thyroid carcinoma (184 papillary, 28 follicular) with no initial distant metastases were retrospectively studied. All patients had a total or near-total thyroidectomy followed by ablation with 3.7 GBq (131)I. Tg levels were determined just before ablative therapy (Tg1) and 6-12 mo later (Tg2). Thresholds of…

De novo mutation in a male patient with Fabry disease: a case report

2014

Abstract Background Fabry disease is an X-linked inherited metabolic condition where the deficit of the α-galactosidase A enzyme, encoded by the GLA gene, leads to glycosphingolipid storage, mainly globotriaosylceramide. To date, more than 600 mutations have been identified in human GLA gene that are responsible for FD, including missense and nonsense mutations, small and large deletions. Such mutations are usually inherited, and cases of de novo onset occur rarely. Case presentation In this article we report an interesting case of a 44-year-old male patient suffering from a severe form of Fabry disease, with negative family history. The patient showed signs such as cornea verticillata, ang…

ErbB4 genotype predicts left frontotemporal structural connectivity in human brain.

2008

Diminished left frontotemporal connectivity is among the most frequently reported findings in schizophrenia and there is evidence that altered neuronal myelination may in part account for this deficit. Several investigations have suggested that variations of the genes that encode the Neuregulin 1 (NRG1)-ErbB4 receptor complex are associated with schizophrenia illness. As NRG1--ErbB4 has been implicated in neuronal myelination, we investigated with diffusion tensor imaging (DTI) whether fractional anisotropy (FA)--a putative measure of neuronal myelination--is predicted by a risk haplotype of the ErbB4 gene. The effects of the ErbB4 genotype were investigated in healthy subjects (N=59; mean …

Motor abnormalities and basal ganglia in first-episode psychosis (FEP)

2020

AbstractBackgroundMotor abnormalities (MAs) are the primary manifestations of schizophrenia. However, the extent to which MAs are related to alterations of subcortical structures remains understudied.MethodsWe aimed to investigate the associations of MAs and basal ganglia abnormalities in first-episode psychosis (FEP) and healthy controls. Magnetic resonance imaging was performed on 48 right-handed FEP and 23 age-, gender-, handedness-, and educational attainment-matched controls, to obtain basal ganglia shape analysis, diffusion tensor imaging techniques (fractional anisotropy and mean diffusivity), and relaxometry (R2*) to estimate iron load. A comprehensive motor battery was applied incl…