Search results for "disorder"
showing 10 items of 6405 documents
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome
2015
Background Joubert syndrome (JBTS) and related disorders are defined by cerebellar malformation (molar tooth sign), together with neurological symptoms of variable expressivity. The ciliary basis of Joubert syndrome related disorders frequently extends the phenotype to tissues such as the eye, kidney, skeleton and craniofacial structures. Results Using autozygome and exome analyses, we identified a null mutation in KIAA0556 in a multiplex consanguineous family with hallmark features of mild Joubert syndrome. Patient-derived fibroblasts displayed reduced ciliogenesis potential and abnormally elongated cilia. Investigation of disease pathophysiology revealed that Kiaa0556-/- null mice possess…
Intrastromal corneal ring segment implantation in paracentral keratoconus with coincident topographic and coma axis.
2012
To evaluate the efficacy, predictability, and safety of implantation of Ferrara-type intrastromal corneal ring segments (ICRS) for refractive correction of paracentral keratoconus.Fernández-Vega Ophthalmological Institute, Oviedo, Spain.Cohort study.Snellen uncorrected (UDVA) and corrected (CDVA) distance visual acuities and residual refractive errors were recorded before and 6 months after ICRS implantation for keratoconus. The tunnels for ICRS implantation were created with a femtosecond laser. The power vector and the Alpins method were used to analyze postoperative refractive outcomes.The study evaluated 56 eyes of 49 patients. The mean UDVA was 0.17 ± 0.14 (SD) preoperatively and 0.41 …
Grammatical distinctions in the left frontal cortex
2001
Abstract Selective deficits in producing verbs relative to nouns in speech are well documented in neuropsychology and have been associated with left hemisphere frontal cortical lesions resulting from stroke and other neurological disorders. The basis for these impairments is unresolved: Do they arise because of differences in the way grammatical categories of words are organized in the brain, or because of differences in the neural representation of actions and objects? We used repetitive transcranial magnetic stimulation (rTMS) to suppress the excitability of a portion of left prefrontal cortex and to assess its role in producing nouns and verbs. In one experiment subjects generated real w…
Dimensions of the laryngeal framework in adults
1994
The increasing application of sophisticated electrophysiological, radiological and surgical methods to the diagnosis and treatment of laryngeal disorders requires a profound knowledge of the size and proportions of the human larynx and it's cartilaginous components. Only inadequate data regarding this subject have so far been accessible. The larynges of 53 patients (28 male and 25 female, age 25-88 years, in the means 59 years) were removed during routine autopsy 12-48 h post mortem and immediately submitted to morphometric investigation. None of the patients had histories or visible signs of laryngeal disease. Anatomical preparations were performed with customary surgical tools and morphom…
Long-Term Functional Outcome after Unilateral Cordectomy
2010
<i>Purpose of the Study:</i> Our aim was to longitudinally analyze the vocal outcome after endoscopic CO<sub>2</sub> laser resection of early glottic carcinoma. <i>Procedures:</i> Sixteen patients treated with laser surgery for T1 or T2 tumors of the vocal cords received voice therapy and were examined 1, 2, 3, 4.5, 6 and 12 months postoperatively. Besides videolaryngostroboscopy, each examination included history, phonetogram of the speaking and the singing voice, language-specific hoarseness diagram and a questionnaire (Voice Handicap Index 12 in German). <i>Results:</i> Objective parameters demonstrated a broad variability with a slight ten…
Effects of high-frequency repetitive transcranial magnetic stimulation of primary motor cortex on laser-evoked potentials in migraine.
2010
The aim of this study was to examine the effects of high-frequency (HF) repetitive transcranial magnetic stimulation (rTMS) of the left primary motor cortex (M1) on subjective pain and evoked responses induced by laser stimulation (LEPs) of the contralateral hand and supraorbital zone in a cohort of migraine patients without aura during the inter-critical phase, and to compare the effects with those of non-migraine healthy controls. Thirteen migraine patients and 12 sex- and age-matched controls were evaluated. Each rTMS session consisted of 1,800 stimuli at a frequency of 5 Hz and 90% motor threshold intensity. Sham (control) rTMS was performed at the same stimulation position. The vertex …
The effect of associative strength on semantic priming in schizophrenia
2017
The present research was designed to investigate the pattern of semantic priming in schizophrenia as a function of strength of association (or semantic distance between concepts in the semantic network). Thirty schizophrenia patients, without formal thought disorder, and twenty-nine healthy controls participated in a lexical decision task in which prime-target associative strength (strong, weak and not related) and stimulus-onset asynchrony (SOA: 250 ms and 750 ms) were manipulated. Patients and controls showed the same associative strength effect on RTs. In the short SOA condition priming effects were obtained for both strong and weak prime-target associative conditions. However in the lon…
Enhanced inflammatory and T-helper-1 type responses but suppressed lymphocyte proliferation in patients with seasonal affective disorder and treated …
2015
Abstract Background Animals show seasonal changes in the endocrine and immune system in response to winter stressors. Even though increased inflammation has been implicated in the pathophysiology of depression, whether immune disorder is a key mediator in seasonal affective depression (SAD) is unknown. Here, we hypothesized that short photoperiods in winter may induce inflammatory response, which contributes to SAD, and that light treatments should normalize immune function and improve depressive symptoms. Methods Twenty patients with a diagnosis of SAD, and a score on the HAM-29 of 20 or higher were recruited for this study. Twenty-one healthy subjects with no personal and family history o…
Attentional Biases and Vulnerability to Depression
1999
This study was designed to examine selective processing of emotional information in depression. It focuses on possible attentional biases in depression, and whether such biases constitute a cognitive vulnerability factor to suffer from the disorder or, on the contrary, they reflect a feature associated exclusively with the clinical level of depression. 81 participants were included in the study: 15 with a diagnosis of Major Depression; 17 were diagnosed as Dysthymia; 11 participants scored over 18 in the Beck Depression Inventory (Beck, Rush, Shaw, & Emery, 1979); 15 participants, in whom a sad mood state was induced by an experimental mood induction (Velten technique + music, or biographic…
Double-decision lexical tasks in thought-disordered schizophrenic patients: a path towards cognitive remediation?
2005
Abstract It has been shown that schizophrenics have certain difficulties in the processing of semantic context. These difficulties have usually been evaluated using lexical decision tasks with semantic priming. In this study, we chose to examine the idea of an abnormality in the early stages of semantic context processing in thought-disordered schizophrenics using two double lexical decision tasks: one with a high (25%) and one with a low (15%) proportion of related words to assess the participants’ competency in controlled and possibly also more automatic context processing. The results obtained in 40 control participants and 40 schizophrenic patients revealed no significant differences in…