Differential levels of Neurofilament Light protein in cerebrospinal fluid in patients with a wide range of neurodegenerative disorders.

Cerebrospinal fluid (CSF) biomarkers are useful in the diagnosis and the prediction of progression of several neurodegenerative diseases. Among them, CSF neurofilament light (NfL) protein has particular interest, as its levels reflect neuroaxonal degeneration, a common feature in various neurodegenerative diseases. In the present study, we analyzed NfL levels in the CSF of 535 participants of the SPIN (Sant Pau Initiative on Neurodegeneration) cohort including cognitively normal participants, patients with Alzheimer disease (AD), Down syndrome (DS), frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), dementia with Lewy bodies (DLB), progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS). We evaluated the differences in CSF NfL accross groups and its association with other CSF biomarkers and with cognitive scales. All neurogenerative diseases showed increased levels of CSF NfL, with the highest levels in patients with ALS, FTD, CBS and PSP. Furthermore, we found an association of CSF NfL levels with cognitive impairment in patients within the AD and FTD spectrum and with AD pathology in DLB and DS patients. These results have implications for the use of NfL as a marker in neurodegenerative diseases.

Upper extremity deep vein thrombosis in a young patient double heterozygous for factor V Leiden and prothrombin G20210A mutation.

We report on a 19-year-old girl with upper extremity deep vein thrombosis after catheter indwelling whose thrombophilic study disclosed the coexistence of factor V Leiden and the prothrombin G20210A mutation. The family study identified five other members who were also heterozygous for both mutations. This is the first case of upper extremity deep vein thrombosis with the co-inheritance of both genetic defects. It provides further evidence that thrombophilic defects mostly require additional triggering factors to induce a thrombotic event and suggests that in young patients with this venous thrombotic location, a thrombophilic search should be performed even when there are other acquired thrombotic risk factors.

[Patterns of use, popular beliefs and proneness to accidents of a baby walker (go-cart). Bases for a health information campaign]. / Patrones de uso, creencias populares y accidentabilidad por andador infantil (tacatá). Bases para una campaña de información sanitaria.

Baby walkers are a potential cause of accidents in infants from 6 months to 1 year of age. We conducted a study to determine the patterns of walker use, the different points of view of the parents and the baby walker-related injuries in our health district. For this purpose, between November 1, 1992 and January 31, 1993, a questionnaire was given to 207 parents of infants between the ages of 3 and 24 months in order to evaluate the socioeconomic situation and to determine the patterns of walker use. We found that 42% of the infants between 4.3 and 13.4 months of age had a baby walker and 46.7% of them used it daily. There was a significant inverse relationship between the walker usage and the maternal level of education. Of the infants who used walkers, 24.9% had experienced an accident (falls 76.2%, injuries 14.3% and hospital admission 4.8%). The accidents were significantly more common in boys. The advantages reported by parents (for using walkers) were: 46.3% none, 34.2% comfort, 10.9% infant amusement, 12.9% help to walk earlier. Dangers reported by the parents included: 27.2% none, 33.5% leg deformities, 43% accidents (33.5% injuries and 12% falling down stairs). In conclusion, our results show a slightly lower number of walker users and walker related accidents when compared to other reports. Parents have mistaken notions about the use of baby walkers. Hence, the need for continued health education campaigns related to this subject remain.

[Necrosis of undescended testis caused by incarcerated inguino-scrotal hernia in a newborn]. / Necrosis de testículo no descendido por hernia inguino-escrotal incarcerada en recién nacido.

Presentation of an uncommon case referring necrosis of an ectopic inguino-femoral testis caused by an incarcerated inguino-scrotal hernia in a 15-days old baby with a permeable peritoneum-vaginal process. In this case, the hernial incarceration episode was responsible for the organ necrosis due to an haemorrhagic infarction. Orchiectomy was performed, and the pathoanatomical diagnosis was testicular haemorrhagic infarction. Review of the pathogenic mechanisms of testicular ectopia, associated anomalies and likely acute complications: torsion, hernial strangulation, traumatism and infections simulating acute abdomen which, in spite of their rarity, may have serious consequences with regard to testicular viability.