Autoimmune mechanisms have been implicated in the pathogenesis of headache and neurological deficits with cerebrospinal fluid lymphocytosis (HaNDL). Pooled sera of five HaNDL patients and 30 controls (10 multiple sclerosis patients, 10 migraine patients, 10 healthy controls) were screened by protein macroarray. All sera were also individually subjected to immunoprecipitation with neuroblastoma cells and the bound antigens were identified by mass spectrometry. Antibodies to three DNA repair proteins (mitogen-activated protein kinase-4, DNA-dependent protein kinase catalytic subunit, DNA excision repair protein ERCC-6) were identified by both macroarray and immunoprecipitation methods in 3/5 HaNDL sera, but in none of the controls. The presence of DNA repair protein antibodies indicates DNA damage and provides further support for the inflammatory etiology of HaNDL.
Chronic inflammatory demyelinating polyneuropathy (CIDP) is a common, treatable, autoimmune peripheral neuropathy considered to produce imbalance by weakness and proprioceptive impairment rather than vestibular impairment. We measured semicircular canal vestibular function in 21 CIDP patients (15M/6F) by the video head impulse test and postural stability with a battery comprising the modified Clinical Test of Sensory Integration and Balance, the Berg Balance Scale, the Dynamic Gait Index, the Fall Efficiency Scale, and the International Cooperative Ataxia Rating Scale. Of the 21 patients, 16 had vestibular impairment, ranging from mild-affecting just a single semicircular canal, to severe-affecting all 6 canals. Although the severity of the vestibular impairment did not correlate either with the severity of the postural imbalance or of the peripheral neuropathy, our data show that vestibular impairment is an additional challenge to balance that some CIDP patients will face.
BackgroundRecently, urinary excretion of the tetrasaccharide 6-α-D-glucopyranosyl-maltotriose (Glc4) has been proposed as a marker for the diagnosis and monitoring of Pompe disease (PD). We aimed to determine the reference intervals and reliable decision-making levels of urine tetrasaccharide concentrations for the diagnosis of infantile- and late-onset Pompe patients in the Turkish population.MethodsIn this study, nine patients with PD (five of them with late-onset PD [LOPD]) and 226 healthy individuals (aged 0–64 years) were included. Urine Glc4 concentrations were determined using the ultra-high-performance liquid chromatography (UHPLC) tandem mass spectrometry (MS/MS) method.ResultsOur data showed that the urine tetrasaccharide levels decreased with age in healthy individuals (p < 0.001, r = −0.256). It was higher especially during the first year of life compared to that in the elder subjects. The tetrasaccharide level of Pompe patients was higher compared to that of healthy controls of the same age: 99 ± 68 mmol/mol creatinine for infantile onset vs. 4.0 ± 3.0 mmol/mol creatinine for healthy controls of the same age group and 12.1 ± 17.4 mmol/mol creatinine for late onset vs. 1.7±1.2 mmol/mol creatinine for healthy controls of the same age group.ConclusionsThe results of this study showed that the reference intervals of tetrasaccharide in urine changed over time; therefore, it is critically important to define age-based decision levels for the diagnosis of LOPD.
Objective: The aim of the study was to translate and cross-culturally adapt the Telehealth Usability Questionnaire (TUQ) and the Telemedicine Satisfaction Questionnaire (TSQ) into Turkish and also to analyze the reliability and validity of both questionnaires. Materials and Methods: A total of 107 multiple sclerosis (MS) patients were recruited. The department clinician monitored all participants with telemedicine for 4 years. Internal consistency was evaluated with Cronbach's alpha coefficient. The test–retest reliability was calculated with intraclass correlation coefficient by analyzing the scores of retested 52 patients 1 week later. The construct validity was examined by Pearson's correlation coefficient (r). Besides, the internal consistency for the subscores of the TUQ and exploratory factor analysis of the TSQ was analyzed. Results: The mean age was 40.5 ± 11.0 years. Internal consistency of all items and the total score of the TUQ were excellent (>0.80; ranged: 0.976–0.979). On the other hand, the internal consistency of all items and total score of the TSQ was excellent, either (>0.80; ranged: 0.969–0.973). The reproducibility of the total score for the TUQ was excellent (>0.80). The test–retest reliability of all items and the total score of the TSQ were within limits ranging from acceptable to excellent (0.617–0.860). The reliability of the total score for the TSQ was excellent (>0.80). The internal consistency of all subscales of the TUQ was excellent (>0.80). The correlation between TUQ and TSQ was strong (r = 0.882, P < 0.001). The factor loading scores of the TSQ were high (0.814–0.919). Conclusions: The Turkish version of the TUQ and the TSQ are valid and reliable in MS patients.
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