A new line method; A direct test in spinal muscular atrophy screening for DBS.

BACKGROUND: Nucleic acid-based assays provide an opportunity to screen for genetically encoded diseases like spinal muscular atrophy (SMA), before the onset of symptoms. Nowadays, such assays could be easily utilized as high-throughputs in SMA to detect a homozygous deletion of exon 7 of the survival motor neuron 1 gene (SMN1) that is responsible for >95% of SMA patients. METHODS: We developed a new line method (NLM) as a direct real time PCR test procedure without nucleic acid extraction in dried blood spots (DBS) to screen for homozygous deletion of exon 7 of the SMN1 gene. Performance of this setup was evaluated on 580 DBS newborn samples and air dried 50 DBS from whole blood including 20 samples for homozygous deletion of the SMN1 gene detected earlier with MLPA. RESULTS: We found all 580 newborn DBS samples as wild type. DBS prepared from 50 whole blood samples also including 20 affected people were correctly identified as homozygous deletions and 30 wild types of exon 7 of SMN1 as before with MLPA. When the MLPA method was taken as the gold standard, the sensitivity and specificity of the NLM test were found 100% for the detection of SMN1 exon 7 homozygous deletion. CONCLUSION: In the NLM, the total test duration has been reduced to less than 75 min without requiring any extra process such as DNA extraction step and sample plate preparation after the punching step. Thereby, newborn SMA screening with the NLM has gained an environmentally friendly feature with not requiring additional tedious steps.

Effects of Robot-Assisted Gait Training in Patients With Multiple Sclerosis: A Single-Blinded Randomized Controlled Study.

OBJECTIVE: This study aims to evaluate and compare the effects of conventional and robot-assisted gait training (RAGT) programs on fatigue, mood, and quality of life in patients with multiple sclerosis who have fatigue. METHODS: In this single-blinded, randomized controlled study, 37 patients with multiple sclerosis were randomized into two groups: RAGT ( n = 18) and conventional gait training ( n = 19). The RAGT group had gait training with RoboGait, whereas the conventional gait training group received conventional physiotherapist-assisted gait training. Outcome measures were the Fatigue Severity Scale, Hospital Anxiety Depression Scale, Multiple Sclerosis Quality of Life-54, Extended Disability Status Scale, Functional Ambulation Category, Berg Balance Test, and 6-min walk test. RESULTS: Baseline demographic, clinic, and functional data were similar. Both groups showed improvements in the Fatigue Severity Scale, Hospital Anxiety Depression Scale-Depression, Multiple Sclerosis Quality of Life, Berg Balance Test, and 6-min walk test scores after treatment. Only the RAGT group showed an improvement in Hospital Anxiety Depression Scale-Anxiety score. The RAGT group had better Fatigue Severity Scale, and Hospital Anxiety Depression Scale scores. CONCLUSION: In combination with the standard rehabilitation program, both RAGT and conventional gait training are effective for multiple sclerosis. However, RAGT has superior effects in terms of fatigue, depression, and anxiety. Therefore, it may be preferred in multiple sclerosis patients who exhibit prominent symptoms of fatigue, depression, or anxiety.

The effect of vitamin D and exercise on balance and fall risk in postmenopausal women: A randomised controlled study.

OBJECTIVE: To evaluate the effects of vitamin D and exercise on balance, fall risk and quality of life (QoL) in postmenopausal women. METHODS: In this prospective, randomised, controlled, single-blind study postmenopausal women aged 50-70 years were included. Participants with <25nmol/L 25(OH) vitamin D were randomised to three groups: group-I (vitamin D replacement) (n = 21), group-II (core and balance exercises) (n = 18), and group-III (vitamin D replacement plus core and balance exercises) (n = 20). The participants with >75nmol/L 25(OH) vitamin D (group-IV) (n = 40) were designated as control group and received the core and balance exercises. The participants were evaluated before and after 8 weeks with Berg balance test and Biodex balance system (postural stability and fall risk tests) for balance and Nottingham Health Profile (NHP) for QoL. RESULTS: Group IV had better baseline BBT, NHP pain, NHP emotional reactions, NHP social isolation subdomain and total score. After treatment, all groups showed significant improvement in balance (except group I, mediolateral stability index) and QoL (except group II). There was no significant difference between groups (I, II and III) after intervention. CONCLUSION: Vitamin D replacement therapy has positive effects on balance and QoL. Core strengthening and balance exercises are essential for better balance and fall prevention in postmenopausal women. Any superior effect of vitamin D or exercise on each other was not determined.