Phosphorylated neurofilament heavy chain in cerebrospinal fluid and plasma as a Nusinersen treatment response marker in childhood-onset SMA individuals from Serbia.

Introduction: Biomarkers capable of reflecting disease onset and short- and long-term therapeutic effects in individuals with spinal muscular atrophy (SMA) are still an unmet need and phosphorylated neurofilament heavy chain (pNF-H) holds significant promise.

Methods: We conducted a longitudinal prospective study to evaluate pNF-H levels in the cerebrospinal fluid (CSF) and plasma of 29 individuals with childhood-onset SMA treated with Nuinersen (SMA type 1:  = 6, 2:  = 17, 3:  = 6). pNF-H levels before and during treatment were compared with the levels of controls ( = 22), patients with Duchenne muscular dystrophy ( = 17), myotonic dystrophy type 1 ( = 11), untreated SMA individuals with chronic type 3 disease ( = 8), and children with presymptomatic SMA ( = 3).

Prothrombotic genetic risk factors in stroke: a possible different role in pediatric and adult patients.

The role of thrombophilia in the pathogenesis of stroke is still controversial, especially in the pediatric stroke. In order to examine the role of common thrombophilic mutations in children and adults with stroke, a case-control study was carried out in a group of 80 children and 73 younger adult patients. The control groups encompassed 100 healthy children and 120 healthy blood donors.

Genetic risk factors for arterial ischemic stroke in children: a possible MTHFR and eNOS gene-gene interplay?

In order to investigate the influence of genetic factors in childhood stroke, we compared the distributions of mutations/ polymorphisms affecting hemostasis and/or endothelial function (factor V [FV] Leiden, factor II [FII] G20210A, methylenetetrahydrofolate reductase [MTHFR] C677T, angiotensin-converting enzyme [ACE] insertion/deletion [ID], and endothelial nitric oxide synthase [eNOS] G894T) among children with stroke and controls. A total number of 26 children with arterial ischemic stroke and a control group of 50 healthy children were included in the study. No statistically significant differences in allelic and genotypic distribution were detected in comparisons between groups.

Arterial ischemic stroke in a child with beta-thalassemia trait and methylentetrahydrofolate reductase mutation.

Genetic and acquired disorders that foster a procoagulable state represent risk factors for stroke in childhood. Although an increased incidence of thromboembolic complications has been reported in patients with thalassemia, severe cerebral thromboembolism has rarely been observed in patients with beta-thalassemia minor. This article describes a case study of a 1-year-old boy who presented with left-sided hemiparesis, seizures, microcytic anemia, and recent infection with reactive thrombocytosis.

Clinical case report atypical myopathy in a young girl with 91 CTG repeats in DM1 locus and a positive DM1 family history.

Myotonic dystrophy type 1 (DM1) is an autosomal dominant inheritable disease associated with an expansion of CTG repeats in the 3' UTR of the DMPK gene. The subject is an 11-year-old girl with atypical myopathy. Because the proband's family has a positive DM1 history, a molecular-genetic analysis for DM1 was performed.

The recurrence risk of ischemic stroke in childhood.

Objective: To determine the risk of recurrence of ischemic stroke in children and to evaluate the influence of etiological factors and underlying mechanisms on recurrence rate.

Subjects And Methods: Thirty-six children (21 boys and 15 girls) with clinically and radiographically proven ischemic cerebral infarction were prospectively followed up over a period of 1-9 years (median 5 years 5 months). The median age of onset of stroke was 8.