SMA (spinal muscular atrophy) is an autosomal recessive neuromuscular disease that causes muscle atrophy and weakness. SMA is diagnosed by homozygous deletion in exon 7 of the SMN1 gene. However, mutations in other genes in the SMA region may contribute to the disease. These include SMN2, which is a pseudogene of SMN1, as well as NAIP and GTF2H2. Within the scope of our study, 58 SMA patients and 40 healthy controls were analyzed in 2018–2021. SMN1 and SMN2 copy numbers were retrospectively included in the study. NAIP gene analyzes were performed by multiplex PCR method and GTF2H2 analyzes were performed by RFLP method respectively. We detected a significant correlation between clinical subtypes (type 2 and type 3) and ambulation status (p = 0.003) and HFMSE scores (p = 0.0063) of 27 pediatric SMA patients compared with separately. Highly differences were determined between SMN2 copy numbers and the SMA subtypes (p = 0.00001). Also, the NAIP gene (p = 0,0095) and the GTF2H2 gene (p = 0,0049) revealed a significant difference between the healthy subjects and SMA subjects, whereas in the SMA subtypes indicated no significant difference. Our investigation is the first to examine the relationship between SMA clinical severity and SMN locus genes in the Turkish population. This small-scale study may be regarded as a pilot study, and it may pave the way for future research to better understand the molecular pathophysiology of SMA disease.
Stem cell therapy, which has promising results in acute disorders such as stroke, supports treatment by providing rehabilitation in the chronic stage patients. In acute stroke, thrombolytic medical treatment protocols are clearly defined in neurologic emergencies, but in neurologic patients who miss the “thrombolytic treatment intervention window,” or in cases of hypoxic-ischemic encephalopathy, our hands are tied, and we are still unfortunately faced with hopeless clinical implementations. We consider mesenchymal stem cell therapy a viable option in these cases. In recent years, novel research has focused on neuro-stimulants and supportive and combined therapies for stroke. Currently, available treatment options are limited, and only certain patients are eligible for acute treatment. In the scope of our experience, five stroke patients were evaluated in this study, who was treated with a single dose of 1–2 × 106 cells/kg allogenic umbilical cord-mesenchymal stem cells (UC-MSCs) with the official confirmation of the Turkish Ministry of Health Stem Cell Commission. The patients were followed up for 12 months, and clinical outcomes are recorded. NIH Stroke Scale/Scores (NIHSS) decreased significantly (p = 0.0310), and the Rivermead Assessment Scale (RMA) increased significantly (p = 0.0234) for all patients at the end of the follow-up. All the patients were followed up for 1 year within a rehabilitation program. Major clinical outcome improvements were observed in the overall clinical conditions of the UC-MSC treatment patients. We observed improvement in the patients’ upper extremity and muscle strength, spasticity, and fine motor functions. Considering recent studies in the literature together with our results, allogenic stem cell therapies are introduced as promising novel therapies in terms of their encouraging effects on physiological motor outcomes.
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