scholarly journals Comparison of brain MRI findings with language and motor function in the dystroglycanopathies

Neurology ◽  
2017 ◽  
Vol 88 (7) ◽  
pp. 623-629 ◽  
Author(s):  
Brianna N. Brun ◽  
Shelley R.H. Mockler ◽  
Katie M. Laubscher ◽  
Carrie M. Stephan ◽  
Anne M. Wallace ◽  
...  

Objective:To describe the spectrum of brain MRI findings in a cohort of individuals with dystroglycanopathies (DGs) and relate MRI results to function.Methods:All available brain MRIs done for clinical indications on individuals enrolled in a DG natural history study (NCT00313677) were reviewed. Reports were reviewed when MRI was not available. MRIs were categorized as follows: (1) cortical, brainstem, and cerebellar malformations; (2) cortical and cerebellar malformations; or (3) normal. Language development was assigned to 1 of 3 categories by a speech pathologist. Maximal motor function and presence of epilepsy were determined by history or examination.Results:Twenty-five MRIs and 9 reports were reviewed. The most common MRI abnormalities were cobblestone cortex or dysgyria with an anterior-posterior gradient and cerebellar hypoplasia. Seven individuals had MRIs in group 1, 8 in group 2, and 19 in group 3. Language was impaired in 100% of those in MRI groups 1 and 2, and degree of language impairment correlated with severity of imaging. Eighty-five percent of the whole group achieved independent walking, but only 33% did in group 1. Epilepsy was present in 8% of the cohort and rose to 37% of those with an abnormal MRI.Conclusions:Developmental abnormalities of the brain such as cobblestone lissencephaly, cerebellar cysts, pontine hypoplasia, and brainstem bowing are hallmarks of DG and should prompt consideration of these diagnoses. Brain imaging in individuals with DG helps to predict outcomes, especially language development, aiding clinicians in prognostic counseling.

2021 ◽  
Vol 12 (02) ◽  
pp. 281-289
Author(s):  
Pranjal Phukan ◽  
Kalyan Sarma ◽  
Barun Kumar Sharma ◽  
Deb K. Boruah ◽  
Bidyut Bikash Gogoi ◽  
...  

Abstract Objective Japanese encephalitis (JE) is an arthropod-borne flavivirus infection having high mortality and morbidity. This study was performed to evaluate the conventional magnetic resonance imaging (MRI) findings in JE and to find out any difference between pediatric and adult JE. Materials and Methods This retrospective study was performed on serologically positive 54 JE patients presented to a tertiary care hospital with acute encephalitic symptoms between April 2016 and October 2019. Relevant neurological examination, cerebrospinal fluid analysis, and MRI scan of the brain were performed. Results Fifty-four JE patients (n = 31 males and n = 23 females) having 32 pediatric and 22 adult JE were included in the study sample. Group 1 JE (n = 16) patients had encephalitic symptoms with duration less than 15 days up to the day of MRI scan and group 2 JE (n = 38) had symptoms more than 15 days. Group 1 JE had mean apparent diffusion coefficient (ADC) value of 0.563 ± 0.109 (standard deviation [SD]) × 10–3 mm2/sec and group 2 JE had 1.095 ± 0.206 (SD) × 10–3 mm2/sec. The mean ADC value of pediatric JE was 0.907 ± 0.336 (SD) × 10–3 mm2/sec and adult JE was 0.982 ± 0.253 (SD) × 10–3 mm2/sec. Conclusion The majority of the JE patient shows abnormal signal alterations in bilateral thalami and substantia nigra. Diffusion-weighted imaging with ADC mapping helps in evaluating the stage of the JE. No statistical significance of the various conventional MRI findings was found between the pediatric JE and adult JE.


2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Evelina Pantzar-Castilla ◽  
Brian Po-Jung Chen ◽  
Freeman Miller ◽  
Jacques Riad

Abstract Background Indications and cutoff value of deformities to determine surgical procedures for flexed knee gait are not clear. The aim was to determine the influence of none or mild, and moderate preoperative knee flexion contracture on the improvement of gait after orthopedic surgery in children with bilateral cerebral palsy (CP). Methods Inclusion criteria; bilateral CP, Gross Motor Function Classification System level I-III, and pre- and post operative-gait analysis. The 132 individuals identified were categorized into 2 groups based on the severity of knee flexion contracture (group 1: none or less than 11°; group 2: greater than or equal to 11°), and then matched according to the exact same soft tissue and/or bony orthopedic surgical procedures performed. The indication for surgery was to prevent progressive development of knee flexion contracture and stance phase flexed knee gait. Pre- and postoperative physical examination and gait analysis data were analyzed retrospectively. Results Sixty (30 + 30) children, with mean age 10.6 years in each group, were included. The average follow-up time was 17 months. Gait Deviation Index (GDI) improved in group 1 from mean 66 (SD 19) to 74 (15), p = 0.004, and in group 2 from 60 (13) to 69 (15), p = 0.001. Knee flexion in stance improved in group 1 from 21.4 (16.1) to 12.1 (16.0) degrees, p = 0.002, and in group 2 from 32.2 (14.2) to 17.0 (15.9), p = 0.001. Step length improved in both groups, p = 0.017 and p = 0.008, respectively. Only in group 2 significant improvement was noted in walking speed, p = 0.018 and standing function, Gross Motor Function Measure (GMFM-D), p = 0.001. Knee flexion contracture decreased in group 1 from mean 4.6 (5.3) to 2.1 (8.3) degrees, p = 0.071 and in group 2 from 17.2 (4.9) to 9.6 (9.3), p = 0.001. There was no statistical difference between groups in pre-post improvement of GDI or other variables, except GMFM-D. Conclusions Relative mild to moderate preoperative knee flexion contracture does not influence the short-term improvement of gait after orthopedic surgery in children with bilateral CP.


2009 ◽  
Vol 67 (2b) ◽  
pp. 407-412 ◽  
Author(s):  
Antonio Luiz dos Santos Werneck ◽  
Ana Lucia Rosso ◽  
Maurice Borges Vincent

OBJECTIVE: To test the ability of a 5HT2a/c (trazodone) antagonist, to improve depression and motor function in Parkinson' disease (PD). METHOD: Twenty PD patients with and without depression were randomly assigned to receive trazodone (group 1) or not (group 2). They were evaluated through UPDRS and Hamilton Depression Rating Scale (HAM-D). RESULTS: For the UPDRS the mean score of group 2 was 33.1 ± 19.7 and 37.1 ± 18.0 at the end. For the group 1, the corresponding scores were 31.4 ± 11.3 and 25.9 ± 13.7. The variations in the Mann-Whitney test were 0.734 at the initial moment and 0.208 at the final moment. The variation in the comparison of the initial moment with the final moment was 0.005 providing statistical significance. For the HAM-D, the mean score went up 4 points in group 2, contrary to a 5.5 points decrease in group 1. CONCLUSION: Data analysis shows that this agent significantly improves depression, but the motor function improved only in the depressed patients. Because of the known anti-dopaminergic property of the 5-HT2c receptors, a possible approach for depression in PD could be the use of 5-HT2c antagonists, similarly to the use of atypical neuroleptics in case of psychotic symptoms.


2021 ◽  
Vol 67 (2) ◽  
pp. 146-154
Author(s):  
Sacide Nur Saraçgil Coşar ◽  
Selin Ozen ◽  
Ali Niyazi Kurtcebe ◽  
Mehmet Coşkun ◽  
Oya Ümit Yemişci

Objectives: This study aims to investigate whether the treatment outcomes of patients with a clinical diagnosis of adhesive capsulitis (AC) and magnetic resonance imaging (MRI) findings consistent with AC undergoing physical therapy (PT) differs to those with AC in the absence of these MRI findings. Patients and methods: Between January 2012 and October 2012, a total of 30 patients (8 males, 22 females; mean age 55.6±12.1 years; range, 35 to 85 years) with a clinical diagnosis of AC underwent MRI of the index shoulder. The MRI scans were evaluated for findings associated with AC: intensity of the inferior glenohumeral ligament (IGHL) and rotator interval (RI). All patients received a total of 15 sessions of PT: hot pack, transcutaneous electrical nerve stimulation, ultrasound, and shoulder exercises. The patients were assessed for shoulder range of motion (ROM) using the Visual Analog Scale (VAS) for shoulder pain, Quick Disabilities of the Arm Shoulder and Hand (Q-DASH), and Health Assessment Questionnaire (HAQ) prior to and following completion of PT. Results: Of the patients, 21 had no MRI findings consistent with AC (Group 1), nine patients had changes in the IGHL and/or RI characteristic of AC (Group 2). In both groups, there was a significant improvement in active and passive shoulder ROM and VAS scores for shoulder pain at rest (Group 1: p<0.001, Group 2: p=0.017) with movement (Group 1: p<0.001, Group 2: p=0.007) and at night (Group 1: p<0.001, Group 2: p=0.012) following PT. However, there was no significant inter-group difference in scores. Similar findings were recorded for Q-DASH and HAQ. Conclusion: Based on these study findings, the presence of characteristic MRI findings of AC with a clinical diagnosis do not predict clinical response to physical therapy.


Author(s):  
Upender K. Munshi ◽  
Meredith Monaco Brown ◽  
Kate A. Tauber ◽  
Michael J. Horgan

Objective Elevation of serum troponin I has been reported in newborns with hypoxic ischemic encephalopathy (HIE), but it is diagnostic and prognostic utility for newborn under 6 hours is not clear. Study the predictive value of early serum troponin I levels in newborns with HIE undergoing therapeutic hypothermia (TH) for persistent residual encephalopathy (RE) at discharge. Study Design Retrospective chart review of newborns admitted with diagnosis of HIE to neonatal intensive care unit (NICU) for TH over a period of 3 years. Troponin levels were drawn with the initial set of admission laboratories while initiating TH. Newborns were followed up during hospital course and stratified into three groups based on predischarge examination and their electrical encephalography and cranial MRI findings: Group 1: no RE, Group 2: mild-to-moderate RE, and Group 3: severe RE or needing assisted medical technology or death. Demographic and clinical characteristics including troponin I levels were compared in each group. Results Out of 104 newborns who underwent TH, 65 infants were in Group 1, 26 infants in Group 2, and 13 newborns in Group 3. All groups were comparable in demographic characteristics. There was a significant elevation of serum troponin in group 2 (mild-to-moderate RE) and group 3 (severe RE) as compared with group 1 (no RE). Receiver operator curve analysis for any RE (groups 2 and 3) compared with group 1 (no RE as control) had 0.88 (0.81–0.95) area under curve, p < 0.001. A cut-off level of troponin I ≥0.12 µg/L had a sensitivity of 77% and specificity of 78% for diagnosis of any RE, positive predictive value of 68%, and a negative predictive value of 84%. Conclusion In newborns undergoing TH for HIE, the elevation of troponin within 6 hours of age predicts high risk of having RE at discharge. Key Points


2021 ◽  
Vol 16 (3) ◽  
pp. 16-28
Author(s):  
N.V. Skripchenko ◽  
◽  
G.P. Ivanova ◽  
E.Yu. Skripchenko ◽  
A.A. Vilnitz ◽  
...  

Objective. To evaluate the efficacy of antiviral therapy and serotherapy for focal tick-borne encephalitis (TBE) in children with acute and chronic infection by assessing clinical and laboratory parameters, as well as MRI findings. Patients and methods. We followed-up 130 children aged 8 to 17 years with focal TBE affecting the central nervous system (CNS). Patients in groups 1 (n = 84) and 2 (n = 20) received therapy in the acute period of infection (on average 3.5 ± 1.3 days following disease onset). Patients in groups 3 (n = 15) and 4 (n = 11) received therapy for chronic TBE infection. Children from group 1 and 3 received antiviral therapy, including oral ribavirin, recombinant interferon-α2 (IFN-α2) (intramuscular injections or suppositories with antioxidants; Viferon®), and oral processed anti-IFN-γ antibodies (Anaferon for children). Children from groups 2 and 4 received serotherapy (anti-TBE immunoglobulin) and ribonuclease (intramuscular injections). Treatment duration depended on the disease phenotype; patients were followed-up for one year. Etiological diag-nostics included measurement of anti-TBE IgM and IgG and TBE antigen using enzyme-linked immunosorbent assays (ELISA), as well as detection of viral RNA in serum and cerebrospinal fluid (CSF) using polymerase chain reaction. All patients have undergone MRI of the brain and cervical spinal cord. Children were examined before treatment and then at several time-points during therapy. Results. In patients from group 1, the period of symptom increase was 4 days shorter than that in patients from group 2. In addition to that, their period of impaired consciousness and CSF pleocytosis was 5 days shorter than in group 2; they had more rapid viral clearance from CSF. Seventy patients from group 1 (83.3%) recovered without any deficit; none of them demonstrated progression of TBE infection. Six children from group 2 (30%) developed chronic TBE infection, whereas 11 patients (55%) had neurological deficit without progression as an outcome. The majority of patients from group 3 (86.7%) demonstrated improvement with one child who had complete regression of symptoms. In all participants from this group, virus replication was stopped. More than two-thirds of children from group 4 (72.7%) had aggravation of symptoms, persistent viral replication, and progression of atrophic CNS changes (according to MRI findings). Conclusion. Antiviral therapy (ribavirin, IFN-a2, and anti-IFN-γ antibodies) are most effective during the first 5 days of the disease; however, it was also effective in children with chronic TBE infection and ensured improvement with partial regression of symptoms. Anti-TBE immunoglobulin and ribonuclease were ineffective in children with focal TBE. Key words: viferon, children, tick-borne encephalitis, acute and chronic course, antiviral therapy, serotherapy


2012 ◽  
Vol 25 (4) ◽  
pp. 709-715 ◽  
Author(s):  
Viviane Vieira Santos ◽  
Marco Antonio Araújo ◽  
Osvaldo J. M Nascimento ◽  
Fernando Silva Guimarães ◽  
Marco Orsini ◽  
...  

INTRODUCTION: Parkinson's disease (PD) is a neurological disorder that causes loss of functional abilities and independence. The aim of this study was to evaluate the effects of a physical therapist-supervised home-based exercise program in patients with PD using the UPDRS scale. MATERIALS AND METHODS: Thirty-three PD patients in the 1.5 to 3 Hoehn and Yahr stages participated in the trial. The patients and their relatives received a booklet with a 12-week home program, with a series of strengthening, stretching and flexibility exercises. The patients were trained by a physical therapist, and each session took 60 minutes, three times a week. RESULTS: We classified our patients in four groups: Group 1 - patients under 60 years of age and less than five years of PD; Group 2 - patients under 60 years of age and more than five years of PD; Group 3 - patients over 60 years of age and less than five years of the disease; and Group 4 - patients over 60 years of age and more than five years of PD. Significant improvement was found in group 1 in mentation, activities of daily living and motor function (p > 0.05). Group 3 presented statistically significant differences in motor function subscale (p > 0.05) and Group 4 showed no worsening in mentation subscale (p > 0.05). Group 2, however, presented no difference in all subscales (p < 0.05). CONCLUSION: Although not all patients improved their UPDRS scores, our data support the use of a home program as an alternative method of physical therapy treatment for PD patients.


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